发明名称 |
Noninvasive prenatal genotyping of fetal sex chromosomes |
摘要 |
Methods, apparatuses, and system are provided for analyzing a maternal sample to determine whether a male fetus of a pregnant female has inherited an X-linked mutation from the mother. A percentage of fetal DNA in the sample is obtained, and cutoff values for the two possibilities (fetus inherits mutant or normal allele) are determined. A proportion of mutant alleles relative to a normal allele on the X-chromosome can then be compared to the cutoff values to make a classification of which allele is inherited. Alternatively, a number of alleles from a target region on the X-chromosome can be compared to a number of alleles from a reference region on the X-chromosome to identify a deletion or amplification. The fetal DNA percentage can be computed by counting reactions with a fetal-specific allele, and correcting the number to account for a statistical distribution among the reactions. |
申请公布号 |
AU2012204748(A1) |
申请公布日期 |
2013.05.02 |
申请号 |
AU20120204748 |
申请日期 |
2012.01.05 |
申请人 |
THE CHINESE UNIVERSITY OF HONG KONG |
发明人 |
LO, YUK MING DENIS;CHIU, WAI KWUN ROSSA;CHAN, KWAN CHEE;TSUI, BO YIN |
分类号 |
C12Q1/68;G06F19/00 |
主分类号 |
C12Q1/68 |
代理机构 |
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代理人 |
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主权项 |
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地址 |
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