FAMILY STUDIES IN VONWILLEBRANDS DISEASE BY ANALYSIS OF RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISMS AND AN INTRAGENIC VARIABLE NUMBER TANDEM REPEAT (VNTR) SEQUENCE

被引：34

作者：

STANDEN, GR ^{[1
]}

BIGNELL, P ^{[1
]}

BOWEN, DJ ^{[1
]}

PEAKE, IR ^{[1
]}

BLOOM, AL ^{[1
]}

机构：

[1] UNIV COLL CARDIFF, DEPT HAEMATOL, HEATH PK, CARDIFF CF4 4XN, S GLAM, WALES

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 1990年 / 76卷 / 02期

基金：

英国惠康基金;

关键词：

D O I：

10.1111/j.1365-2141.1990.tb07879.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Summary We have previously identified a microsatellite variable number tandem repeat region of the nucleotide sequence ATCT within intron 40 of the von Willebrand factor (vWF) gene. By polymerase chain reaction (PCR) amplification of this region, eight major alleles have been demonstrated in the South Wales population, with an overall heterozygosity rate of 75%. Direct sequencing has shown that the alleles correspond to lengths of between six and 14 ATCT repeats. In the present study we describe the use of this variable repeat sequence and previously reported restriction fragment length polymorphisms (RFLP) to study inheritance patterns in families with type I, IIA and severe type III von Willebrand's disease (vWD). The results confirm that analysis of this precisely localized intragenic locus provides a highly informative marker for gene tracking studies in the major forms of vWD. Copyright © 1990, Wiley Blackwell. All rights reserved

引用

页码：242 / 249

页数：8

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