CN104064108B - A kind of Chromosomal Abnormal Karyotype image library and its construction method - Google Patents
A kind of Chromosomal Abnormal Karyotype image library and its construction method Download PDFInfo
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Abstract
The present invention relates to a kind of Chromosomal Abnormal Karyotype image library and its construction method for medical field,It, which is mainly characterized by taking, makees chromosomal disorder diagnosis because of diagnosis and treatment needs and has been diagnosed as the remaining adherent growth living cells of difficult chromosome abnormality,Through passing on amplification repeatedly,Harvesting,Make hypotonic,It is fixed,20 DEG C of storages,Then a kind or the mixing of several cell suspension desired proportions are taken,Original every part of cell suspension is set to be changed into containing only a kind of Chromosomal Abnormal Karyotype containing different proportion,It is easy to a variety of Chromosomal Abnormal Karyotypes of mistaken diagnosis,It is prepared by dyed body,Image library is made in image capture,Institute is imaged to add antidiastole,The difficulty and complexity of chimera diagnosis,The caryogram picture of more chromosome abnormality composite types can be made on demand,Sample is easy to get and discarded unwanted cell is diverted to the teaching teaching of chromosome analysis,Technical examination,Room interstitial is commented and resource-sharing,To finding quality of diagnosis problem in time,Improving diagnostic level has significant effect.
Description
Technical field
The present invention relates to a kind of Chromosomal Abnormal Karyotype image library and its construction method, the thin of medical domain is mainly used in
The teaching teaching of chromosome karyotype analysis, technical examination are made in born of the same parents' genetic diagnosis laboratory, room interstitial is commented and resource-sharing is with depositing
Storage.
Background technology
Chromosome is the inhereditary material in nucleus, and the mankind have 23 pairs of chromosomes, wherein 22 pairs are autosome, 1 pair is
Determine the sex chromosome of gender.Chromosome is loaded with the gene of hereditary information, and wherein DNA accounts for more than 90%, rna content with
Cell cycle and growing state and be varied from, typically constitute from 1%~10%.
Chromosomal structural abnormality, numerical abnormality and chimera, clinical signs are chromosomal disorder, and the birth for belonging to common lacks
Fall into, such as mongolism, primary amenorrhea, androgyny.Chromosomal structural abnormality includes chromosome translocation, missing, inversion, ring
Shape etc.；Numerical abnormalities of chromosomes refers to more 1 or several chromosomes, more 1 or several chromosome segments；Chimera caryogram refers to together
One case individual simultaneously deposits several karyotypes.The conventional method of present analysis karyotype is with tested tissue or thin
Born of the same parents, cell growth, separation medium cell, 0.075mol/L KCl are terminated by regular growth culture, 0.02 μ l/ml colchicines
After the chromosome sectioning programs such as hypotonic, methanol-glacial acetic acid (3: 1) fixation, finally digested with pancreatin, dye aobvious band, so as to make
Chromosome structure and number whether abnormal judgement.Antenatal examined by different levels by chromosome analysis to diagnose chromosomal disorder at present
Disconnected center or hospital laboratory are generally carried out, and are widely used in antenatal, Embryonic limb bud cell prochromosome disease diagnosis and work
For the clinical diagnosises such as abnormal pregnancy, blood disease, tumour or the important indicator of study of pathogenesis.
As all kinds of laboratory diagnosis projects carried out, should there is the quality control method of corresponding specification.The matter in laboratory
Amount control is to ensure that the premise of laboratory diagnosis result accuracy, it has also become action by government.In order to strengthen the quality control in laboratory,
China has set up Ministry of Public Health's clinical examination center in nineteen eighty-two, divides into room interstitial and comments office, laboratory diagnosis item is engaged in sole duty
Purpose quality control.1997 No. 31 files of Ministry of Public Health's [defending doctor's hair],《Clinical labororatory's management method》、《Chinese hospital evaluation standard
Detailed rules for the implementation》And substantial amounts of document points out that laboratory must have the quality control standard of specification, the laboratory diagnosis carried out
The room interstitial that project must participate in clinical examination central tissue of the Ministry of Public Health is commented.Since nineteen eighty-two, in clinical examination subject successively
The Internal Quality Control of clinical trial is carried out, room interstitial is commented.Include before, during and after the experiment to each inspection project and instrument, examination
Agent and the quality control of experimenter.Quality control has penetrated into visiting, biochemistry, microorganism, immune, gene, cytomorphology
Each experimental projects such as diagnosis.The quality control in laboratory has turned into carries out the access system of laboratory diagnosis project, as hospital
The major criterion of grade assessment.
The quality control of pre-natal diagnosis has caused pay attention to day by day.As China is to healthy reproduction and inborn defect work
Benefit is paid attention to, and each province and city establish pre-natal diagnosis center in recent years, have carried out trisomy 21 syndrome, Edwards syndrome, nerve
The Prenatal Screening of the great inborn defect such as pipe deformity and pre-natal diagnosis, wherein the fetus amniotic fluid dyeing related to great inborn defect
The abnormal diagnosis of body has turned into the main project of current pre-natal diagnosis.It is big multi-specialized because pre-natal diagnosis is the subject newly carried out
The technical experience of personnel more lacks, especially for difficult, rare case, domestic and international case and such as cat's cry syndrome of reporting for the first time
Happened occasionally etc. chromosome abnormality unobvious but the serious case of clinical consequences, mistaken diagnosis phenomenon.China President makes (1994
October 27 day the 30th No. three) announce " pre-natal diagnosis statutory standard " and General Office of the State Council's [promulgated by the State Council does (1999) No. 15]
Emphasized in the notice of the forwarding Ministry of Public Health " on carrying out opinion on work of improving the overall quality of newborns ", " each province, city is antenatal examines
Disconnected center must strengthen the quality control of pre-natal diagnosis, maintain strict control over gate of the quality monitoring ".
The quality control of pre-natal diagnosis is the important topic that many scholars are directed to research.There are more document report in foreign countries
Cell culture of the importance, Sikkema-Raddatz B etc. of pre-natal diagnosis quality control to Prenatal diagnosis
And the influence factor of film-making process has made in-depth study, it is proposed that the method for indoor quality control；Fries N and Merz E etc.
Propose the method for quality control of iconography pre-natal diagnosis；Pihlk etc. thinks that the quality control of Prenatal Screening must be strengthened；
During 2002~2004 years, quality the room that Bastien P etc. have made Infection of Toxoplasma Gondii Prenatal molecular diagnosis to French 23 laboratories
Evaluation, it is believed that room interstitial comment to promote laboratory monitoring exchange of technology, pinpoint the problems, improve laboratory diagnosis quality play it is important
Effect.
Feasible Quality Control thing is developed, is to carry out Prenatal diagnosis room interstitial to comment crucial ring with Internal Quality Control
Section.Although administrative responsibile institution of China and academia attach great importance to quality control (including Internal Quality Control and the room of pre-natal diagnosis
Interstitial is commented), but because of unfeasible Quality Control thing, so substantial quality control can not be carried out.That is, to carry out antenatal
The room interstitial of cytogenetic diagnosis is commented it may first have to have Quality Control thing.This is quality control officer and this professional technology
Personnel solve but all the time without the problems solved by every means for a long time.
The content of the invention
In order to solve the problems, such as that present inventors have proposed this hair without feasible Quality Control thing in Prenatal diagnosis
It is bright.
The invention aims to provide a kind of cytogenetic diagnosis laboratory applied to medical domain to make chromosome
The teaching teaching of karyotyping, technical examination, room interstitial comment and the Chromosomal Abnormal Karyotype image library of resource-sharing and storage and
Its construction method.
The object of the present invention is achieved like this：It is derived from after making routine chromosome disease laboratory diagnosis because of clinical diagnosis and treatment needs
And the remaining in adherent growth primary or passage living cells of difficult, rare chromosome abnormality has been diagnosed as, through passing on repeatedly,
After a large amount of amplifying cells quantity, or attached cell is harvested when passing on and expanding, after hypotonic and be fixed, cell is suspended in 3 parts
It is standby in -20 DEG C as stoste Quality Control storage of cells in the fixer that methanol and 1 part of glacial acetic acid are prepared, then dyed by the system treated
The requirement of body abnormal karyotype picture library, the stoste Quality Control of the difficult chromosome abnormality for the different cases that extraction numerical example is each prepared are thin
Born of the same parents, made in required ratio mixing using Quality Control cell, so that a kind of original general every part of only chromosome is different
The stoste Quality Control cells switch of normal caryogram is the application matter of a variety of Chromosomal Abnormal Karyotypes containing different proportion, to be easy to mistaken diagnosis
Cell is controlled, through film-making, drying, pancreatin digestion, the aobvious bands of dyeing G, intake karyotype image, concentrates and preserves, establish chromosome
Abnormal karyotype image library, the Quality Control figure as chromosome karyotype analysis are standby.
The present invention, which is derived from, to be made after routine chromosome disease laboratory diagnosis and has been diagnosed as difficult, rare because clinical diagnosis and treatment needs
The remaining of chromosome abnormality is in the primary of adherent growth or passage living cells, through passing on repeatedly, after a large amount of amplifying cells quantity
Attached cell is harvested, prepares stoste Quality Control cell, then needs the stoste Quality Control cell of the different examples each prepared time by Quality Control
Want ratio to mix, make using Quality Control cell, thus can be made into it is a greater variety of, include with a thin using Quality Control
The application Quality Control cell of simultaneously containing a variety of different proportions, different types of easily mistaken diagnosis Chromosomal Abnormal Karyotypes in born of the same parents, through system
Piece, drying, pancreatin digestion, the aobvious Chromosomal Abnormal Karyotype images with made of of G, not only add antidiastole, chromosomal mosaic
Body diagnosis difficulty and complexity, and because have enough stoste Quality Control cells optional and needed for ratio mixing, so can make
The Chromosomal Abnormal Karyotype image of standby more chromosome abnormality composite types, sample are easy to get and are converted into discarded unwanted cell
Available for the teaching teaching of chromosome karyotype analysis, technical examination, room interstitial is commented and the useful materials of resource-sharing, right after
Improve diagnostic level, the tool that tightens quality control has an unexpected effect.
Brief description of the drawings
Fig. 1 is according to a kind of 46, X, t (Y proposed by the present invention；5)(q12；Q12) Chromosomal Abnormal Karyotype image.
Fig. 2 is according to a kind of 46, XX, t (13 proposed by the present invention；18)(q12；Q21) Chromosomal Abnormal Karyotype image.
Such as Fig. 1, its karyotype is not the normal male caryogram of the normal female or 46, XY that show as 46, XX, but
For 46, X, t (Y；5)(q12；Q12 rare, easy mistaken diagnosis abnormal karyotype), that is, No. 5 chromosome [der after lesion transposition occur
(5)] much like No. 9 chromosomes；And Y chromosome [t (the Y after lesion transposition occur；5)] much like No. 14 chromosomes, this caryogram
In have two chromosome abnormalities simultaneously, very easy mistaken diagnosis is 46, X ,+9 ,+14,-Y, -5.
Such as Fig. 2, its karyotype is not the normal male caryogram of the normal female or 46, XY that show as 46, XX, but
For 46, XX, t (13；18)(q12；Q21 rare, easy mistaken diagnosis abnormal karyotype), that is, occur No. 13 with after No. 18 chromosome translocations
The very easy mistaken diagnosis of der (13) is marker chromosome (mar)；And the very easy mistaken diagnosis of der (18) chromosome is No. 13 chromosomes.
Embodiment
1st, conventional collection of specimens and culture：Routinely take and make routine chromosome disease because needing clinical diagnosis and treatment or pre-natal diagnosis
The samples such as the fetus amniotic fluid of laboratory diagnosis, chorionic villi, routinely handle sample, cell are inoculated in into 25cm2Tissue Culture Flask
In, every is inoculated with 2~3 bottles, adds RPMI-1640 cell culture fluids 3ml, 37 DEG C, 5%CO2Middle culture, amniotic fluid cell culture 7 days
Liquid is changed in left and right, and upper liquid is poured into another blake bottle, adds fresh medium 3ml, continues culture to cell confluency rate up to 85%
Left and right；2nd day micro- Microscopic observation growing state after chorionic villi inoculation, fresh medium is changed when having spindle cell growth, after
Continuous culture is to cell confluency rate up to 85% or so.
2nd, regular growth harvest is prepared with chromosome：(1) 2~3h before cultivating is terminated, adds the autumn waters -- limid eyes that concentration is 20 μ g/ml
It is celestial plain, with No. 7 syringe needles in every 5ml culture mediums, add 3~4 drops to make ultimate density be 0.1 μ g/ml.After gently shaking up, perseverance is placed into
In incubator, continue 2~3h of culture, to accumulate the more mitotic figure for stopping at mid-term.(2) harvesting：Taken out and trained by insulating box
Bottle is supported, with 0.25% Trypsin Induced attached cell 5 minutes, 1 bottle of harvest, blake bottle bottle wall was fully blown and beaten with suction pipe every time,
Cell is all departed from bottle wall, then move to cell liquid in conical centrifuge tube, 1500 turns/min, centrifuge 10min, remove supernatant
Liquid.(3) Hypotonic treatment：The 0.075mol/L KCl8ml of 37 DEG C of pre-temperatures are added, after blowing and beating (about 100 times) repeatedly, put 37 DEG C of water
Hypotonic treatment 25min or so in bath cabinet.(4) pre-fix：Add and fresh prepare fixer 1ml (methanol: glacial acetic acid=3: 1), gently
It is light to mix.(5) centrifuge：2000 turns/min, 10min is centrifuged, supernatant is abandoned in suction.(6) it is fixed：Fixation is slowly added into along centrifugation tube wall
Liquid 8ml, is gently mixed, fixed 10min.(7) centrifuge：Ibid, supernatant is sucked.(8) fix again：Liquid 8ml is fixed, is mixed,
Fixed 10min.(9) centrifuge：Ibid, supernatant is sucked.(10) cell suspension processed：According to cell concentration how much, add appropriate fixed
Liquid, fully mix, cell suspension is made, saves backup.
3rd, conventional film-making and aobvious band：(1) piece is dripped：The slide soaked in advance through frozen water is taken out, draws what is mixed with suction pipe
Cell suspension is carrying out drop piece from borneol about with a distance from 30cm, the drop of drop 2~3 cell suspension per agreement that contracts a film or TV play to an actor or actress, make cell preferably scattered.Typically
Each blake bottle can make 3~5 sample slices.(2) dye：After sample airing, you can with dye liquor (1 part of Giemsa liquid stoste,
9 parts of pH6.8 phosphate buffer) dyeing 15min, running water dries standby (from backside rinse) after rinsing.
4th, routine chromosome karyotyping：With Automated Cytogenetics Platform Cytovision
(Leica Microsystems) photographs good split coil method and makees chromosome structure analysis, makes and making a definite diagnosis.Except automatically analyze with
Outside, chromosome karyotype analysis can also count 30 karyotypes under an optical microscope, whether to find chromosome number
It is abnormal, if any special circumstances such as chimeras, count up to 100 karyotypes；3-5 karyotype is analyzed under oil mirror,
To find the whetheing there is all kinds of textural anomalies such as chromosome translocation, missing, inversion, ring-type, diagnosis report is finally made.
5th, the amplification cultivation before prepared by Quality Control cell：The above method is diagnosed as difficult, rare chromosome abnormality disease
The remaining of example is in the primary of adherent growth or passage living cells, changes appropriate fresh medium within every 7 days or so, continues to cultivate
To cell confluency rate up to 85% or so, with 0.25% Trypsin Induced attached cell, tryptose is cleaned with sterile saline
Enzyme, add appropriate culture medium suspension cell, be transferred to several larger blake bottles and again continue to Secondary Culture, so repeatedly, be passaged to
In 50~100 generations or more, until after cell largely expands, make cell harvesting and prepared with chromosome, or side passes in succeeding generations
Appropriate passage cell is harvested for side.
6th, the preparation of stoste Quality Control cell：Stoste Quality Control is prepared on the basis of " regular growth harvests to be prepared with chromosome "
Cell, i.e.,：(1) 2~3h before termination culture, harvesting, adds the colchicine that concentration is 20 μ g/ml, per in 5ml culture mediums
With No. 7 syringe needles, 3~4 drops are added to make ultimate density be 0.1 μ g/ml.After gently shaking up, place into insulating box, continue culture 2~
3h, to accumulate the more mitotic figure for stopping at mid-term.(2) harvesting：Blake bottle is taken out by insulating box, with 0.25% tryptose
Enzymic digestion attached cell 5 minutes, 1 bottle of harvest, blake bottle bottle wall is fully blown and beaten with suction pipe every time, cell is all departed from bottle wall,
Then cell liquid is moved in conical centrifuge tube, 1500 turns/min, centrifuges 10min, remove supernatant.(3) Hypotonic treatment：Add 37
The 0.075mol/L KCl8ml of DEG C pre-temperature, after blowing and beating (about 100 times) repeatedly, it is left to put Hypotonic treatment 25min in 37 DEG C of water baths
It is right.(4) pre-fix：The fresh fixer 1ml for preparing is added (methanol: glacial acetic acid=3: 1), gently to mix.(5) centrifuge：2000 turns/
Min, centrifuges 10min, and supernatant is abandoned in suction.(6) it is fixed：Fixer 8ml is slowly added into along centrifugation tube wall, is gently mixed, it is fixed
10min.(7) centrifuge：Ibid, supernatant is sucked.(8) fix again：Liquid 8ml is fixed, is mixed, fixed 10min.(9) centrifuge：Together
On, suck supernatant.(10) stoste Quality Control cell suspension is prepared：According to cell concentration how much, add appropriate fixer, it is fully mixed
It is even, concentration is made as 105/ ml cell suspension, is saved backup.
7th, using the preparation of Quality Control cell：The difficult dyeing for the different cases that extraction 1 or numerical example are prepared in different time
The stoste Quality Control cell of body abnormal karyotype, by 1 stoste Quality Control cell suspension respectively with other 1,2,3,4,5,6
Example, 7,8,9,10,11,12,14,15,16,17,18,19,20,1~50 stoste
Quality Control cell suspension is with 1: 1,1: 2,1: 3,1: 4,1: 5,1: 6,1: 7,1: 8,1: 9,1: 10,1: 1~20 volume ratio or thin
Born of the same parents' number ratio is mixed, the mixed chromosome abnormality cell for containing different type and ratio using Quality Control cell suspension,
But as the Quality Control cell of same example time.
So through passing on the Quality Control prepared by the chromosome abnormality cell of amplifying cells, harvesting, the different cases of mixing
Cell, not only enough more of quantity, and make there was only a kind of Chromosomal Abnormal Karyotype in original general every part of stoste Quality Control cell
It is changed into with a simultaneously containing a variety of different proportions, different types of easily mistaken diagnosis chromosomes in applying Quality Control cell
The feature of abnormal karyotype, so as to more add antidiastole, chromosomal chimaera diagnosis on the basis of natively easy mistaken diagnosis
Difficulty and complexity, and the Chromosomal Abnormal Karyotype image of more chromosome abnormality composite types can be prepared, sample is easy to get
And discarded unwanted cell is converted into the technical examination available for chromosome karyotype analysis, Internal Quality Control and room interstitial and commented.
If Fig. 1 is a kind of Chromosomal Abnormal Karyotype of case, Fig. 2 is the Chromosomal Abnormal Karyotype of another case, if
By the cell mixed in equal amounts of the case of Chromosomal Abnormal Karyotype containing Fig. 1 and the case of Chromosomal Abnormal Karyotype containing Fig. 2, then this mixing
Chromosomal Abnormal Karyotype in cell suspension simultaneously containing Fig. 1 and Fig. 2, contain 4 abnormal chromosomes；If by more kinds of dyeing
The mixing with cells of body exception case, then in the cell suspension mixed just containing a variety of Chromosomal Abnormal Karyotypes, a plurality of exception be present
Chromosome, by that analogy.If mixed this by certain proportion and the Quality Control cell of preparation, idiogram is made
Picture, commented for room interstitial, technical merit examination, be easy to mistaken diagnosis and fail to pinpoint a disease in diagnosis, by periodically using it is this artificially prepare it is doubtful
The test of difficult Chromosomal Abnormal Karyotype figure, it is highly significant to reflection diagnostic level, raising diagnostic level.
8th, using Quality Control cell routine chromosome sectioning and aobvious band：(1) piece is dripped：Take out the load glass soaked in advance through frozen water
Piece, the cell suspension mixed is drawn with suction pipe drop piece is being carried out about with a distance from 30cm from borneol, the drop of drop 2~3 cell suspension per agreement that contracts a film or TV play to an actor or actress,
Make cell preferably scattered.General each blake bottle can make 3~5 sample slices.(2) dye：After sample airing, you can use dye liquor
(1 part of Giemsa liquid stoste, 9 parts of pH6.8 phosphate buffer) dyes 15min, and running water dries after rinsing (from backside rinse)
It is standby.
9th, the shooting of Chromosomal Abnormal Karyotype image and its foundation of image library：With Automated Cytogenetics
Platform Cytovision (Leica Microsystems) photograph good karyotype image, including directly absorb
Chromosomal Abnormal Karyotype image, make No. 1 chromosome to No. 22 chromosomes and sex chromosome by conventional treatment before ordinal number arrangement after
Chromosomal Abnormal Karyotype image, to make No. 1 chromosome different by the chromosome after ordinal number arrangement to No. 22 chromosomes and sex chromosome
Normal caryogram picture, directly it is derived from difficult, rare Chromosomal Abnormal Karyotype figure, the dye for making to make a definite diagnosis after routine chromosome disease laboratory diagnosis
Colour solid abnormal cell suspension mixed with chromosome abnormality cell suspension form several chromosome abnormalities and deposit chimera caryogram,
Chromosome abnormality cell suspension is mixing a kind formed or several chromosome abnormalities and chromosome with chromosome normal cell suspension just
Chang Bingcun chimera caryogram.Karyotype image per year, the capitalization English of the moon, the shooting date of day and Specimen origin address
Alpha code, and after 2 expert diagnosis, examination ＆ verification, write down Standard karyotype, including numerical abnormalities of chromosomes, textural anomaly and embedding
Situations such as fit, will numbering and Standard karyotype input computer, establish image library, it is necessary to when stand-by Quality Control is extracted from computer
Picture number, corresponding idiogram is then sent to laboratory or technical staff makees quality examination, room interstitial
Comment.
10th, room interstitial comments application：It is random from Chromosomal Abnormal Karyotype image library as needed or targetedly transfer
Matter comments figure, is mass-sended with E-mail to each laboratory or professional, makes each room or personnel contaminate on time, by regulation complete independently
Colour solid abnormity diagnosis, diagnostic result is equally fed back with E-mail, what organizer or each study subject of examination person's evaluation were collected examines
The accuracy of disconnected result, Misdiagnosis, analysis reason, periodically discuss, problem be present in correction, with increase the experience of technical staff and
Experience, improve quality of diagnosis；Test and examination application：Take matter to comment figure to deliver by examination person, with it is written, oral, examine examined on the spot
Core person's diagnostic level；Teaching application：By face to face or it is long-range in a manner of explain matter to student, graduate student and comment abnormal core shown in figure
Type, diagnostic method, the diagnostic skill for allowing it to recognize within the time as short as possible, grasp more abnormal karyotype.
11st, room interstitial comments the result and effect of application：The Chromosomal Abnormal Karyotype matter that we establish 1 composite unit is commented
Figure, its caryogram is respectively 46, X, t (Y；5)(q12；Q21), 46, XY, 15P+, 46, XX, t (13；18)(q12；Q21), 46, X, r
(Xp), 46, X, t (Y；) and 46, XX, t (9 Y；20)(P13；P13), belong to more difficult, rare abnormal karyotype, and made thin
The room interstitial of born of the same parents' genetic diagnosis comments experiment.We have respectively provided the chromosome abnormality room of 1 composite unit to 35 laboratories
Interstitial comments figure, altogether 35 composite units, containing 210 parts of abnormal karyotypes, wherein there is 19 parts of room interstitials to comment the non-Result of figure；Return
Report result has 191 parts, and total return rate is 90.95%.Respectively participate in evaluation and electing the result that laboratory is returned, and corresponds to 46, X, t (Y；
5)(q12；Q21), 46, XY, 15P+, 46, XX, t (13；18)(q12；Q21), 46, X, r (Xp), 46, X, t (Y；Y) and 46, XX,
t(9；20)(P13；P13 the result of 6 Chromosomal Abnormal Karyotypes sequence), its complete accuracy is respectively 81.82%,
78.13%th, 86.67%, 78.79%, 78.13%, 90.32%, complete error rate is respectively 15.15%, 21.88%,
10.00%th, 18.18%, 21.88%, 6.45%, total complete accuracy, part accuracy, partial error rate and complete mistake
Rate is respectively 82.20%, 0.52%, 1.57% and 15.71%.The cytogenetic diagnosis result in laboratory of showing respectively to participate in evaluation and electing is deposited
In higher misdiagnosis rate, if by 19 parts of Quality Control figures because the result made a definite diagnosis and do not returned that is not sure counts, its misdiagnosis rate
Can be higher.This be probably because：1st, make room interstitial with Chromosomal Abnormal Karyotype figure to comment, to especially difficult, rare abnormal karyotype
It is difficult to further identify；2nd, selected room interstitial comments object to be partial to grass-roots unit；3rd, chromosome karyotype analysis is near
What year was just generally had developed, technical staff lacks the laboratory diagnosis experience to difficult rare chromosome case；4th, first ginseng
Commented with room interstitial, the room interstitial for lacking correlation comments experience；5th, without the knot by unified standard standardization ground description karyotype
Structure；6th, this room interstitial comments matter assessment of bids standard determined by method higher.Misdiagnosis during the room interstitial that we are had found is commented is, its
In have 5 46, X, t (Y；5)(q12；Q21) it is misdiagnosed as 46, X, t (5；15), the former might have influence except reproductive function
Outside, normally, but the latter shows as the sexual abnormality of primary amenorrhea to clinical sign；There are 7 46, XY, 15P+It is misdiagnosed as 46,
XY, t (15；21), the former is generally the normal polymorphism caryogram of clinical sign, but the latter is the caryogram of mongolism；There are 2
46, XX, t (13；18)(q12；Q21) by wrong diagnosis be 46, XX, -18 ,+mar, 1 be misdiagnosed as 46, XX, del (18) [1],
The former easily miscarries when giving birth to filial generation, and normally, but the latter shows as the disease of chromosome deficiency to he or she's clinical sign
Shape, it will not typically live to birth；There are 3 46, X, r (Xp) to be misdiagnosed as 46, X ,+mar, 2 be misdiagnosed as 45, X, be misdiagnosed as
46, XY and each 1 of 46, X, Xp, particularly it is misdiagnosed as after 46, XY it is necessary to take surgical resection " cryptorchidism " to prevent canceration；
There are 4 46, X, t (Y；Y) be misdiagnosed as 46, X ,-Y+11,3 be misdiagnosed as 46, X ,-Y ,+del (11), more 1 Y of protokaryon type
Chromosome, there is no Y chromosome after mistaken diagnosis but；46, XX, t (9；20) 46, XX are misdiagnosed as, -20 ,+17 and 46, XX, del
(9) each 1, protokaryon type category chromosome translocation, spontaneous abortion easily occurs when giving birth to filial generation, my clinical sign normally,
But 46, XX after mistaken diagnosis is normal karyotype, 2 kinds of caryogram are typically all without surviving birth in addition.We in room interstitial for commenting
The Problems of Misdiagnosis of middle discovery, analysis is made and has begged for and correct one by one.
As can be seen here, in the presence of the cytogenetic diagnosis of difficult, rare caryogram the problem of and its produced by mistaken diagnosis
More serious consequence.Illustrate to comment figure to be used to carry out cytogenetics using the Chromosomal Abnormal Karyotype room interstitial that the present invention makes
The Necessity and feasibility commented of diagnosis room interstitial is learned, to pinpointing the problems, in time corrects, improve diagnostic level there is important meaning
Justice.
Claims (6)
1. a kind of construction method of Chromosomal Abnormal Karyotype image library for medical field, it is mainly characterized by taking because clinic is examined
Control needs and make chromosomal disorder and diagnose and be diagnosed as the remaining adherent growth living cells of difficult chromosome abnormality, through passing repeatedly
Generation amplification, harvesting, make it is hypotonic, fixed, be made stoste Quality Control cell, -20 DEG C of storages, then extraction numerical example stoste Quality Control is thin
Born of the same parents' desired proportions mix, and it is containing difference to make a kind of original every part of stoste Quality Control cells switch containing only Chromosomal Abnormal Karyotype
Ratio, a variety of Chromosomal Abnormal Karyotypes for being easy to mistaken diagnosis apply Quality Control cell, and prepared by dyed body, image capture and concentrate storage
Deposit and build up Chromosomal Abnormal Karyotype image library, wherein chromosome abnormality image not only adds antidiastole to gained, chimera is examined
Disconnected difficulty and complexity, and because have enough stoste Quality Control cells optional and needed for ratio mix, so can prepare more
The Chromosomal Abnormal Karyotype image of polysomy unusual combination type, sample are easy to get and discarded unwanted cell are made into case figure
As, the teaching teaching that is diverted to chromosome analysis, technical examination, room interstitial is commented and abnormal case resource-sharing.
2. a kind of construction method of Chromosomal Abnormal Karyotype image library for medical field according to claim 1, its
It is characterized in the stoste Quality Control cell for extracting the difficult Chromosomal Abnormal Karyotype for the different cases that numerical example is prepared in different time, by 1
Example stoste Quality Control cell suspension is respectively with other 1~50 stoste Quality Control cell with 1: 1~20 volume ratio or cell number ratio
Example is mixed, the mixed chromosome abnormality cell for containing different type and ratio using Quality Control cell, but as same
The Quality Control cell of example time.
3. a kind of construction method of Chromosomal Abnormal Karyotype image library for medical field according to claim 1, its
It is characterized in that Chromosomal Abnormal Karyotype image includes Chromosomal Abnormal Karyotype image, No. 1 chromosome of work to No. 22 dyes directly absorbed
Colour solid and sex chromosome press Chromosomal Abnormal Karyotype image, No. 1 chromosome of work to No. 22 dyes before ordinal number arranges after conventional treatment
Colour solid and sex chromosome are by the Chromosomal Abnormal Karyotype image after ordinal number arrangement.
4. a kind of construction method of Chromosomal Abnormal Karyotype image library for medical field according to claim 1, its
It is characterized in that Chromosomal Abnormal Karyotype image includes directly being derived from difficult, the rare dye for making to make a definite diagnosis after routine chromosome disease laboratory diagnosis
Colour solid abnormal karyotype figure.
5. a kind of construction method of Chromosomal Abnormal Karyotype image library for medical field according to claim 1, its
It is characterized in that extract numerical example stoste Quality Control cell includes chromosome abnormality stoste Quality Control cell and dyeing in required ratio mixing
Several chromosome abnormalities of body exception stoste Quality Control mixing with cells composition and the chimera caryogram deposited.
6. a kind of construction method of Chromosomal Abnormal Karyotype image library for medical field according to claim 1, its
Be characterized in the description of the standards of the various Chromosomal Abnormal Karyotypes corresponding with Chromosomal Abnormal Karyotype image, according to year, the moon,
Day the capitalization English letter numbering input computer for preparing date and Specimen origin address, extracted from computer during use
Stand-by Chromosomal Abnormal Karyotype picture number, find out corresponding image and make quality evaluation.
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| CN109035222A (en) * | 2018-07-10 | 2018-12-18 | 泰山医学院 | A kind of intelligence Chromosomal Abnormal Karyotype image library control system and control method |
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| Publication number | Priority date | Publication date | Assignee | Title |
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| WO1995011313A1 (en) * | 1993-10-18 | 1995-04-27 | Amoco Corporation | Control compositions for determination of molecular cytogenetic abnormalities with dna probes |
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| JPH03123860A (en) * | 1989-10-06 | 1991-05-27 | Sumitomo Metal Ind Ltd | Chromosome inspecting device |
| AU2003901671A0 (en) * | 2003-04-02 | 2003-05-01 | The University Of Adelaide | Comparative genomic hybridization |
| CN1609194A (en) * | 2003-10-25 | 2005-04-27 | 翁炳焕 | Chromosome abnormality quality controlling cell preparation and the quality control method |
| US20050233338A1 (en) * | 2004-04-20 | 2005-10-20 | Barrett Michael T | Methods and compositions for assessing chromosome copy number |
| US20130183710A1 (en) * | 2010-08-17 | 2013-07-18 | Siemens Healthcare Diagnostics Inc. | Reference sample for quality control in molecular diagnosis |
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| WO1995011313A1 (en) * | 1993-10-18 | 1995-04-27 | Amoco Corporation | Control compositions for determination of molecular cytogenetic abnormalities with dna probes |
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| Title |
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| "An external quality assessment scheme for prenatal detection of rare chromosomal abnormalities";Binghuan Weng;《Clinica Chimica Acta》;20120710;第413卷;第1721-1724页 * |
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