发明申请
- 专利标题: NONINVASIVE PRENATAL GENOTYPING OF FETAL SEX CHROMOSOMES
- 专利标题(中): 阴性染色体的非侵入性预测基因
-
申请号: US13978358申请日: 2012-01-05
-
公开(公告)号: US20140019064A1公开(公告)日: 2014-01-16
- 发明人: Yuk Ming Dennis Lo , Wai kwun Rossa Chiu , Kwan Chee Chan , Bo Yin Tsui
- 申请人: Yuk Ming Dennis Lo , Wai kwun Rossa Chiu , Kwan Chee Chan , Bo Yin Tsui
- 申请人地址: CN Shatin, New Territories
- 专利权人: THE CHINESE UNIVERSITY OF HONG KONG
- 当前专利权人: THE CHINESE UNIVERSITY OF HONG KONG
- 当前专利权人地址: CN Shatin, New Territories
- 国际申请: PCT/IB12/00015 WO 20120105
- 主分类号: G06F19/18
- IPC分类号: G06F19/18
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.
公开/授权文献
- US10152568B2 Noninvasive prenatal genotyping of fetal sex chromosomes 公开/授权日:2018-12-11
信息查询