EA201992444A3 - GENOMIC ANALYSIS BASED ON SIZES - Google Patents

GENOMIC ANALYSIS BASED ON SIZES

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Publication number
EA201992444A3
EA201992444A3 EA201992444A EA201992444A EA201992444A3 EA 201992444 A3 EA201992444 A3 EA 201992444A3 EA 201992444 A EA201992444 A EA 201992444A EA 201992444 A EA201992444 A EA 201992444A EA 201992444 A3 EA201992444 A3 EA 201992444A3
Authority
EA
Eurasian Patent Office
Prior art keywords
chromosome
size
haplotype
ranking
imbalance
Prior art date
Application number
EA201992444A
Other languages
Russian (ru)
Other versions
EA201992444A2 (en
Inventor
Юйк Мин Дэннис Ло
Квань Чэ Чань
Вэньли Чжэн
Вай Квунь Росса Чиу
Original Assignee
Те Чайниз Юниверсити Ов Гонконг
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Те Чайниз Юниверсити Ов Гонконг filed Critical Те Чайниз Юниверсити Ов Гонконг
Publication of EA201992444A2 publication Critical patent/EA201992444A2/en
Publication of EA201992444A3 publication Critical patent/EA201992444A3/en

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Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids

Abstract

Описываются системы, способы и аппаратура для выполнения пренатальной диагностики дисбаланса последовательностей. Признаком дисбаланса в некоторых обстоятельствах может быть сдвиг (например, в сторону более узкого распределения по размерам). Например, распределение по размерам фрагментов нуклеиновых кислот из хромосомы "в группе риска" можно использовать для определения фетальной хромосомной анеуплоидии. Ранжировку по размеру различных хромосом можно использовать для определения отклонений ранжира хромосомы "в группе риска" от ожидаемой ранжировки. Также различие между статистическим показателем размеров для одной хромосомы можно сравнить со статистическим показателем размеров другой хромосомы для идентификации значимого сдвига в размере. Также можно определить генотип и гаплотип плода, используя распределение по размерам для определения того, имеет ли место дисбаланс последовательностей в материнском образце относительно генотипов или гаплотипа матери, причем посредством этого получают генотип или гаплотип плода.The systems, methods and apparatus for performing prenatal diagnosis of sequence imbalance are described. A sign of imbalance in some circumstances may be a shift (for example, towards a narrower size distribution). For example, the size distribution of nucleic acid fragments from the “at risk” chromosome can be used to determine fetal chromosomal aneuploidy. Ranking by the size of different chromosomes can be used to determine the deviation of the ranking of the chromosome "at risk" from the expected ranking. Also, the difference between the statistical size indicator for one chromosome can be compared with the statistical size indicator of another chromosome to identify a significant shift in size. It is also possible to determine the genotype and haplotype of the fetus using size distribution to determine whether there is an imbalance of sequences in the maternal sample relative to the genotypes or haplotype of the mother, whereby the fetus genotype or haplotype is obtained.

EA201992444A 2010-06-30 2010-11-05 GENOMIC ANALYSIS BASED ON SIZES EA201992444A3 (en)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
US36039910P 2010-06-30 2010-06-30

Publications (2)

Publication Number Publication Date
EA201992444A2 EA201992444A2 (en) 2020-02-28
EA201992444A3 true EA201992444A3 (en) 2020-04-30

Family

ID=69636698

Family Applications (1)

Application Number Title Priority Date Filing Date
EA201992444A EA201992444A3 (en) 2010-06-30 2010-11-05 GENOMIC ANALYSIS BASED ON SIZES

Country Status (1)

Country Link
EA (1) EA201992444A3 (en)

Also Published As

Publication number Publication date
EA201992444A2 (en) 2020-02-28

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