PRENATAL-DIAGNOSIS OF HEMOPHILIA INVOLVING GRANDPATERNAL MOSAICISM

被引：6

作者：

LEBO, RV ^{[1
]}

KOERPER, MA ^{[1
]}

KIM, JH ^{[1
]}

CHUEH, J ^{[1
]}

GOLBUS, MS ^{[1
]}

机构：

[1] UNIV CALIF SAN FRANCISCO,DEPT PEDIAT,SAN FRANCISCO,CA 94143

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 47卷 / 03期

关键词：

MOSAICISM; HEMOPHILIA-A; PRENATAL DIAGNOSIS;

D O I：

10.1002/ajmg.1320470321

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Our Factor VIII and RFLP analyses identified previously unreported grandpaternal hemophilia A mosaicism in a male who transmitted the disease allele to 2 of 4 daughters and 2 of 4 grandsons. An uncommon flanking polymorphic DXS52 allele cosegregated with this grandpaternal mutant allele. This and other reports of mosaic hemophilia A carriers indicate that parental mosaicism can explain unusual segregation of low Factor VIII activities and DNA polymorphisms in about 1% of hemophilia A pedigrees. (C) 1993 Wiley-Liss, Inc.

引用

页码：401 / 404

页数：4

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