LO, YUK MING DENNIS,卢煜明,盧煜明,CHIU, WAI KWUN ROSSA,赵慧君,趙慧君,CHAN, KWAN CHEE,陈君赐,陳君賜,LEUNG, TAK YEUNG,梁德杨,梁德楊,JIANG, PEIYONG,江培勇
申请号：
TW101106446
公开号：
TWI611186B
申请日:
2012.02.24
申请国别(地区):
TW
年份:
2018
代理人:
摘要：
Methods, systems, and apparatus are provided for determining zygosity of a multiple-fetus pregnancy using a biological sample taken from the mother. The fetal and maternal DNA in the sample (e.g. plasma) can be analyzed for a particular chromosomal region to identify genetic differences in the fetuses. For example, a normalized parameter for the measure of a primary or secondary allele can show variances for different chromosomal regions when fetuses are dizygotic. Such a variance can be determined relative to an expected value if the fetuses were genetically identical. Statistical methods are provided for analyzing the variation of the normalized parameters to determine fetal DNA concentration and the maternal-fetal mixed genotype at various loci. Parental genotype and haplotype information can also be used to identify inheritance of different parental haplotypes to indicate genetic differences among the fetuses.本發明提供使用取自母體之生物樣品測定多胎兒妊娠之接合性的方法、系統及設備。可對於特定染色體區域分析樣品(例如血漿)中之胎兒及母體DNA以鑑別胎兒之遺傳差異。舉例而言，當胎兒為雙接合子性時，用於量度初級或次級對偶基因之正規化參數可展示針對不同染色體區域之變化。若該等胎兒為遺傳學相同的，則可相對於期望值測定該變化。提供用於分析該等正規化參數之變化的統計方法以測定各個基因座處之胎兒DNA濃度及母體-胎兒混合基因型。親本基因型及單倍型資訊亦可用於鑑別不同親本單倍型之遺傳以指示該等胎兒中之遺傳差異。
