FACTOR-VIII GENE EXPLAINS ALL CASES OF HEMOPHILIA-A

被引：68

作者：

NAYLOR, JA

GREEN, PM

RIZZA, CR

GIANNELLI, F

机构：

[1] UNITED MED & DENT SCH GUYS & ST THOMAS HOSP,GUYS HOSP,DIV MED & MOLEC GENET,LONDON SE1 9RT,ENGLAND

[2] CHURCHILL HOSP,OXFORD HAEMOPHILIA CTR,OXFORD OX3 7LJ,ENGLAND

来源：

LANCET | 1992年 / 340卷 / 8827期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1016/0140-6736(92)93080-7

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Using an mRNA-based method to examine haemophilia A mutations we provide an explanation for the puzzling report that half of the mutations causing severe disease are not detected by analysis of the putative promoter, exons, and most exon/intron boundaries of the factor VIII gene. An unusual cluster of mutations involving regions of intron 22 not examined earlier leads to defective joining of exons 22 and 23 in the mRNA and caused haemophilia A in 10/24 severely affected UK patients.

引用

页码：1066 / 1067

页数：2

共 7 条

[1]

GITSCHIER J, 1991, THROMB HAEMOSTASIS, V65, P662

[2] MOLECULAR CHARACTERIZATION OF SEVERE HEMOPHILIA-A SUGGESTS THAT ABOUT HALF THE MUTATIONS ARE NOT WITHIN THE CODING REGIONS AND SPLICE JUNCTIONS OF THE FACTOR-VIII GENE [J].