Carrier detection and prenatal diagnosis of hemophilia A

被引：1

作者：

Wang, XF ^{[1
]}

Liu, YF ^{[1
]}

Li, ZG ^{[1
]}

Chu, HY ^{[1
]}

Sang, XJ ^{[1
]}

Fan, YS ^{[1
]}

Wang, HL ^{[1
]}

机构：

[1] Shanghai Med Univ 2, Ruijin Hosp, Shanghai Inst Hematol, Shanghai 200025, Peoples R China

来源：

CLINICAL CHEMISTRY AND LABORATORY MEDICINE | 2001年 / 39卷 / 12期

关键词：

prenatal diagnosis; hemophilia A;

D O I：

暂无

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

The aim of this study was to establish a simple, rapid carrier detection and prenatal diagnosis system for hemophilia A. Intron 22 inversion in FVIII gene was directly examined by long-distance polymerase chain reaction. Polymorphisms of factor VIII intragenic restriction fragment length polymorphism of Bcl I, short tandem repeat (STR) within intron 13 and 22, and extragenic DXS 52 (St 14) variable number tandem repeats (VNTR) loci were assessed by hereditary linkage analysis. The diagnostic rates for these loci were 47.6% (intron 22 inversion), 27.8% (Bcl I), 28.6% and 29.4% (STR within intron 13 and 22), and 81.3% (DXS52), respectively. The overall diagnostic rate in 21 families was 94.7%. The diagnosis in hemophilia A patients or carriers can be made if intron 22 inversion is present. The intragenic and extragenic loci hereditary linkage analysis could be used to establish the diagnosis in intron 22 inversion-negative patients.

引用

页码：1204 / 1208

页数：5

共 8 条

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