CN104017858B - A kind of Chromosomal Abnormal Karyotype room interstitial comments figure and preparation method - Google Patents
A kind of Chromosomal Abnormal Karyotype room interstitial comments figure and preparation method Download PDFInfo
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- CN104017858B CN104017858B CN201310072348.7A CN201310072348A CN104017858B CN 104017858 B CN104017858 B CN 104017858B CN 201310072348 A CN201310072348 A CN 201310072348A CN 104017858 B CN104017858 B CN 104017858B
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- G—PHYSICS
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N21/00—Investigating or analysing materials by the use of optical means, i.e. using sub-millimetre waves, infrared, visible or ultraviolet light
- G01N21/84—Systems specially adapted for particular applications
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- G—PHYSICS
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N1/00—Sampling; Preparing specimens for investigation
- G01N1/28—Preparing specimens for investigation including physical details of (bio-)chemical methods covered elsewhere, e.g. G01N33/50, C12Q
- G01N1/30—Staining; Impregnating ; Fixation; Dehydration; Multistep processes for preparing samples of tissue, cell or nucleic acid material and the like for analysis
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Abstract
The present invention relates to a kind of Chromosomal Abnormal Karyotype room interstitials for medical field to comment figure and preparation method, its main feature, which is taken from, to be made after routine chromosome disease laboratory diagnosis because clinical diagnosis and treatment needs and has been diagnosed as difficulty, the extra of rare chromosome abnormality retains cell suspension, the requirement of figure is commented according to room interstitial to be produced, take a kind or the mixing of several cell suspension desired proportions, it is changed into only a kind of Chromosomal Abnormal Karyotype in original general every part of cell suspension containing different proportion, it is easy to a variety of Chromosomal Abnormal Karyotypes of mistaken diagnosis, it is prepared through routine chromosome, room interstitial prepared by intake chromosome image comments figure to increase antidiastole, the difficulty and complexity of chimera diagnosis, sample is easy to get and converts discarded unwanted cell to the teaching teaching that can be used for chromosome karyotype analysis, technical examination, room interstitial is commented and is provided The shared useful materials in source have an unexpected effect to raising diagnostic level, the tool that tightens quality control after.
Description
The present invention relates to a kind of Chromosomal Abnormal Karyotype room interstitials to comment figure and preparation method, is mainly used in medical domain
The teaching teaching of chromosome karyotype analysis is made in cytogenetic diagnosis laboratory, technical examination, room interstitial are commented and resource-sharing with
Storage.
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 90% or more, rna content with
Cell cycle and growing state and be varied, typically constitute from 1%~10%.
Chromosomal structural abnormality, numerical abnormality and chimera, clinical signs are chromosomal disorder, belong to common birth and lack
It falls 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 to use tested tissue or thin
Born of the same parents terminate cell growth, separation medium cell, 0.075mol/L KCl by regular growth culture, 0.02 μ l/ml colchicine
After the chromosome sectionings programs such as hypotonic, methanol-glacial acetic acid (3: 1) fixation, band finally is shown with pancreatin digestion, dyeing, to make
Chromosome structure and number whether Yi Chang judgement.
Development with country to the pre-natal diagnosis pay attention to day by day to work and medicine, is examined by chromosome analysis at present
Disconnected chromosomal disorder is generally carried out by pre-natal diagnosis centers at different levels or hospital laboratory, and is widely used in antenatal, embryo and plants
Enter the diagnosis of prochromosome disease and as the important of the clinical diagnosises such as abnormal pregnancy, blood disease, tumour or study of pathogenesis
Index.As the laboratory diagnosis project carried out, should there be the quality control method accordingly standardized, this has become the administration of government
Behavior has simultaneously been built consensus.It is emerging items due to diagnosing chromosomal disorder by chromosome analysis, technical staff is to chromosome
Difficult, rare, the first case the diagnosis of structure and numerical abnormality often lacks experience, Yi Yinfa mistaken diagnosis, just with greater need for reinforcement
Quality control, development room interstitial are commented.There is more document report to reinforce in recent years and carries out iconography, cytogenetics, divides
Sub- science of heredity pre-natal diagnosis and the quality control of female serum Prenatal Screening.Bastien P etc. is to the laboratory Duo Jia with regard to bending in amniotic fluid
The Prenatal molecular diagnosis of shape worm has made 3 years by a definite date between ward quality monitorings；Tosto F etc. to the Genotyping of thalassemia,
Report result and test method have made the investigation of 5 years, and propose the implementation plan that local room interstitial is commented；Ramsden SC
Molecular genetic technique is utilized to pass through quality evaluation the room of the Rapid prenatal of numerical abnormalities of chromosomes over 3 years etc. reporting
It goes through.Although thering is document to comment method to propose opinion the quality control of cytogenetic diagnosis and its room interstitial, because it is in matter
The problem of controlling preparation, granting and chromosome the production aspect of object, is also difficult to apply in the room interstitial of cytogenetic diagnosis is commented.
To solve the above-mentioned problems, present inventors have proposed the present invention.
The invention aims to provide a kind of Chromosomal Abnormal Karyotype room interstitial to comment figure and preparation method.
The object of the present invention is achieved like this: being derived from after making routine chromosome disease laboratory diagnosis because of clinical diagnosis and treatment needs
And be diagnosed as the extra of difficult, rare chromosome abnormality and retained cell suspension, wanting for figure is commented according to room interstitial to be produced
It asks, the cell suspension for extracting a kind or several difficult chromosome abnormalities is mixed in required ratio, to make original every part general
Only have a kind of Chromosomal Abnormal Karyotype to be changed into cell suspension in every part of cell suspension containing more than one different proportions, easy
In a variety of Chromosomal Abnormal Karyotypes of mistaken diagnosis, through film-making, drying, pancreatin digestion, the aobvious band of dyeing, karyotype image is absorbed,
It concentrates and saves, comment figure spare as Chromosomal Abnormal Karyotype room interstitial.
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 extra cell suspension make-up room interstitial that retains of chromosome abnormality comments figure, and prepared room interstitial comments figure to have in same a matter
The feature for commenting in figure while containing there are many different proportion, different types of easy mistaken diagnosis Chromosomal Abnormal Karyotype, thus original
With regard to more increased on the basis of easy mistaken diagnosis antidiastole, chromosomal chimaera diagnosis difficulty and complexity, sample be easy to get and
Convert discarded unwanted cell to that the teaching teaching that can be used for chromosome karyotype analysis, technical examination, room interstitial is commented and resource
Shared useful materials have an unexpected effect to raising diagnostic level, the tool that tightens quality control after.
Fig. 1 is that a kind of Chromosomal Abnormal Karyotype room interstitial proposed according to the present invention comments figure.
Below with reference to Fig. 1, figure and preparation method is commented to make a kind of Chromosomal Abnormal Karyotype room interstitial proposed by the present invention detailed
Thin description.
As shown in Figure 1, its karyotype is not to show as the normal female or 46 of 46, XX, the normal male caryogram of XY,
It but is 46, X, t (Y；5)(q12；Q12 rare, easy mistaken diagnosis abnormal karyotype), i.e. No. 5 chromosomes after generation lesion transposition
[der (5)] are much like No. 9 chromosomes；And Y chromosome [t (the Y after lesion transposition occurs；5)] much like No. 14 chromosomes, this core
There are two chromosome abnormalities in type figure simultaneously, very easy mistaken diagnosis is 46, X ,+9 ,+14,-Y, -5.Specific implementation method of the invention is such as
Under:
1, collection of specimens and culture: using 5ml asepsis injector and sterile blood sampling pipe, (5u/ml anticoagulant heparin agent, can be added
5-10ml peripheral blood), with No. 8 or No. 9 syringe needles, being taken with sterile working need to take blood to make chromosomal disorder experiment because clinical diagnosis and treatment needs
The venous blood 5ml of the patient of diagnosis, mixes gently, and adds 20 drop venous blood to 4ml1640 lymphocytes culture medium with No. 8 syringe needles
In, it sets in 37 DEG C of incubators and cultivates 72h.
2, prepared by chromosome: (1) terminating and cultivate preceding 2~3h, the colchicine that concentration is 20 μ g/ml, every 5ml culture is added
With No. 7 syringe needles in base, 3~4 drops is added to make 0.1 μ g/ml of ultimate density.It after gently shaking up, places into insulating box, continues to cultivate
2~3h, to accumulate the more mitotic figure for stopping at mid-term.(2) it harvests cell: culture bottle is taken out by insulating box, it is abundant with suction pipe
Culture bottle bottle wall is blown and beaten, so that cell is all detached from bottle wall, then moves to cell liquid in conical centrifuge tube, 1500 turns/min, from
Heart 10min, removes supernatant.(3) Hypotonic treatment: being added the 0.075mol/L KCl8ml of 37 DEG C of pre-temperatures, blows and beats (about 100 repeatedly
It is secondary) after, set Hypotonic treatment 25min or so in 37 DEG C of water baths.(4) pre-fix: addition is fresh to prepare fixer 1ml (methanol: ice
Acetic acid=3: 1) it, mixes gently.(5) it is centrifuged: 2000 turns/min, being centrifuged 10min, inhale and abandon supernatant.(6) fixed: along centrifuge tube
Wall is slowly added into fixer 8ml, mixes gently, fixed 10min.(7) it is centrifuged: ibid, sucking supernatant.(8) it fixes: reinforcing again
Determine liquid 8ml, mixes, fixed 10min.(9) it is centrifuged: ibid, sucking supernatant.(10) cell suspension processed: according to cell concentration how much,
Appropriate fixer is added, mixes well, cell suspension is made, saves backup.
3, it film-making and aobvious band: (1) drips piece: taking out the glass slide impregnated in advance through ice water, the cell mixed is drawn with suction pipe
Suspension is carrying out drop piece with a distance from borneol about 30cm, and every 2~3 drop cell suspensions of agreement that contracts a film or TV play to an actor or actress drop disperse cell preferably.It is general each
Culture bottle can make 3~5 sample slices.(2) dye: after sample airing, i.e., available dye liquor (1 part of Giemsa liquid stoste, pH6.8's
9 parts of phosphate buffer) dyeing 15min, dries (from backside rinse) spare after rinsing with ruinning water.
4, chromosome karyotype analysis: with Automated Cytogenetics Platform Cytovision (Leica
Microsystems it) photographs good split coil method and makees chromosome structure analysis, make and making a definite diagnosis.Other than automatically analyzing, dyeing
Body karyotyping can also count 30 karyotypes under an optical microscope, to find whether chromosome number is abnormal, such as
There are the special circumstances such as chimera, counts up to 100 karyotypes；3-5 karyotype is analyzed under oil mirror, is had with discovery
All kinds of textural anomalies such as the transposition of dye-free body, missing, inversion, ring-type.
5, the unwanted cell suspension of difficult, rare easy missed case is retained at -20 DEG C, and after issuing diagnosis report
Discarded normal and ordinary stain body exception case sample.
6, the cell suspension for taking difficult, rare, the easy missed case retained in batch, by 1 cell suspension respectively with other 1
Example, 2,3,4,5,6,7,8,9,10,11,12,14,15,1~50 cell suspension with
1: 1,1: 2,1: 3,1: 4,1: 5,1: 6,1: 7,1: 1~20 different suspension volumes or cell number ratio are mixed, after mixing
Cell suspension contain the chromosome abnormality cell of different type and ratio, but preparation of specimen's room interstitial as same an example time is commented
Figure.
7, mixed cell suspension is subjected to conventional film-making and aobvious band, absorbs high-quality karyotype, is contaminated through 2 experts
After the diagnosis of colour solid caryogram, audit, Standard karyotype is write down, including situations such as numerical abnormalities of chromosomes, textural anomaly and chimera, with
Corresponding caryogram is stored together.Room interstitial made by sample (mixed cell suspension) in this way with an example time comments figure to contain not
The easy mistaken diagnosis Chromosomal Abnormal Karyotype of same type, different proportion.The present invention is commented with the chromosome abnormality room interstitial of this program making
Figure includes the Chromosomal Abnormal Karyotype image directly absorbed, makees No. 1 chromosome to No. 22 chromosomes and sex chromosome by ordinal number
Chromosomal Abnormal Karyotype image, No. 1 chromosome of work to No. 22 chromosomes and sex chromosome before arranging after conventional treatment press ordinal number
Chromosomal Abnormal Karyotype image after arrangement is directly derived from difficult, the rare dye made a definite diagnosis after making routine chromosome disease laboratory diagnosis
Colour solid abnormal karyotype figure, chromosome abnormality cell suspension mix the several chromosome abnormalities constituted with chromosome abnormality cell suspension
And the chimera caryogram deposited, chromosome abnormality cell suspension mix a kind or the several dyes constituted with chromosome normal cell suspension
The chimera caryogram that colour solid is abnormal and chromosome is normal and deposits.
8, apply: room interstitial comments application: commenting in figure from the room interstitial of storage transfer at random or targetedly as needed
Matter comments figure, is mass-sended with E-mail to each laboratory or professional, and each room or personnel is enabled to contaminate on time, by regulation complete independently
Colour solid abnormity diagnosis equally feeds back diagnostic result with E-mail, and what organizer or examination person evaluated that each study subject summarized examines
The accuracy of disconnected result, Misdiagnosis, analysis reason periodically discuss, correct there are problem, with increase technical staff experience and
Experience improves quality of diagnosis；Test and examination application: taking matter that figure is commented to deliver by examination person, with it is written, oral, examine examined on the spot
Core person's diagnostic level；Teaching application: matter is explained to student, graduate student in a manner of face to face or remotely and comments abnormal core shown in figure
Type, diagnostic method, the diagnostic skill for allowing it to recognize in the shortest possible time, grasping more abnormal karyotype.
9, room interstitial comments the result and effect of application: we are on the basis of making chromosome abnormality lymphocyte strain by oneself, system
6 Chromosomal Abnormal Karyotype room interstitials are made and have commented figure, the Chromosomal Abnormal Karyotype matter for establishing 1 composite unit comments figure, core
Type 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；Y) and 46, XX, t (9；20)(P13；P13), belong to more difficult, rare abnormal karyotype, and make cell something lost
It passes the room interstitial learned and diagnosed and comments test.We have respectively provided the chromosome abnormality room interstitial of 1 composite unit to 35 laboratories
Figure is commented, amounts to 35 composite units, contain 210 parts of abnormal karyotypes, wherein there are 19 parts of room interstitials to comment the non-Result of figure；Return knot
Fruit has 191 parts, and total return rate is 90.95%.Respectively participate in evaluation and electing laboratory return as a result, corresponding 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 6 Chromosomal Abnormal Karyotypes sequence) as a result, its complete accuracy be respectively 81.82%, 78.13%,
86.67%, 78.79%, 78.13%, 90.32%, complete error rate is respectively 15.15%, 21.88%, 10.00%,
18.18%, 21.88%, 6.45%, total complete accuracy, part accuracy, partial error rate and complete error rate are respectively
82.20%, 0.52%, 1.57% and 15.71%.Showing respectively to participate in evaluation and electing, there are higher for the cytogenetic diagnosis result in laboratory
Misdiagnosis rate, the result that do not return due to if 19 parts of Quality Control figures made a definite diagnosis because being not sure count, and misdiagnosis rate can be higher.This
May be because are as follows: 1, room interstitial is made with Chromosomal Abnormal Karyotype figure comment, especially difficult, rare abnormal karyotype is difficult to make into one
The identification of step；2, the room interstitial selected comments object to be partial to grass-roots unit；3, chromosome karyotype analysis is in recent years just universal
It has developed, technical staff lacks the laboratory diagnosis experience to difficult rare chromosome case；4, room interstitial is participated in for the first time to comment,
Lack relevant room interstitial and comments experience；5, without the structure by unified standard standardization ground description karyotype；6, between this room
Matter comments matter assessment of bids standard determined by method higher.The room interstitial that we are had found comment in Misdiagnosis be, wherein there is 5 46,
X, t (Y；5)(q12；Q21) it is misdiagnosed as 46, X, t (5；15), the former is other than reproductive function might have influence, clinical sign
It is general normal, but the latter shows as the sexual abnormality of primary amenorrhea；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 is in life
It easily miscarries when educating filial generation, he or she's clinical sign is generally normal, but the latter shows as the symptom of chromosome deficiency, generally not
It can 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
It 46, X, Xp each 1, is especially 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), the more 1 Y dyeing of protokaryon type
Body, but without Y chromosome after mistaken diagnosis；46, XX, t (9；20) 46, XX are misdiagnosed as, -20 ,+17 and 46, XX, del (9) each 1
When giving birth to filial generation spontaneous abortion easily occurs for example, protokaryon type category chromosome translocation, my clinical sign is generally normal, but mistaken diagnosis
46, XX afterwards is normal karyotype, in addition 2 kinds of caryogram generally will not all survive birth.
It can be seen that produced by the problem of in the presence of the cytogenetic diagnosis of difficult, rare caryogram and its mistaken diagnosis
More serious consequence.Illustrate that the Chromosomal Abnormal Karyotype room interstitial made using the present invention comments figure for carrying out cytogenetics
The Necessity and feasibility commented of diagnosis room interstitial is learned, to finding the problem, timely correction, improve diagnostic level there is important meaning
Justice.
Claims (3)
1. a kind of Chromosomal Abnormal Karyotype room interstitial comments the preparation method of figure, it is characterized in that access example difficulty and/or rare dyeing
Body abnormal cell suspension mixes in proportion, and only a kind of Chromosomal Abnormal Karyotype in original every part of cell suspension is made to be changed into every part
In cell suspension containing different proportion, a variety of Chromosomal Abnormal Karyotypes for being easy to mistaken diagnosis and the chromosomal chimaera caryogram deposited,
And then through routine chromosome preparation, chromosomal chimaera caryogram image capture, obtains Chromosomal Abnormal Karyotype room interstitial and comment figure.
2. the preparation method that a kind of Chromosomal Abnormal Karyotype room interstitial according to claim 1 comments figure, which is characterized in that institute
Stating access example cell suspension and mixing in proportion is with 1 cell suspension respectively with 1~50 other cell suspension with 1: 1~20
Different suspension volumes or cell number ratio mixed, mixed cell suspension contains the chromosome of different type and ratio
Abnormal cell, but preparation of specimen's room interstitial as same an example time comments figure.
3. a kind of Chromosomal Abnormal Karyotype room interstitial according to claim 1 comments the preparation method of figure, it is characterized in that dyeing
It includes the Chromosomal Abnormal Karyotype image directly absorbed that body abnormal karyotype room interstitial, which comments figure, or makees No. 1 chromosome to No. 22 dyeing
Chromosomal Abnormal Karyotype image before body and sex chromosome are arranged by ordinal number after conventional treatment, or make No. 1 chromosome to No. 22 dyes
Colour solid and sex chromosome are by the Chromosomal Abnormal Karyotype image after ordinal number arrangement.
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| CN112036237A (en) * | 2020-07-22 | 2020-12-04 | 江苏医像信息技术有限公司 | Chromosome chimera identification and judgment method and system and chromosome karyotype analysis method |
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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;1721-1724 |
| 染色体异常核型淋巴细胞建系及其在染色体分析室间质评中的应用;翁炳焕;《中华医学遗传学杂志》;20071231;第24卷(第6期);全文 |
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