Heterozygous factor XI deficiency associated with three novel mutations

被引：30

作者：

Mitchell, M ^{[1
]}

Cutler, J ^{[1
]}

Thompson, S ^{[1
]}

Moore, G ^{[1
]}

ap Rees, EJ ^{[1
]}

Smith, M ^{[1
]}

Savidge, G ^{[1
]}

Alhaq, A ^{[1
]}

机构：

[1] St Thomas Hosp, Haemophilia Ctr, London SE1 7EH, England

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 1999年 / 107卷 / 04期

关键词：

heterozygous factor XI deficiency; PCR-SSCP;

D O I：

10.1046/j.1365-2141.1999.01769.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

To determine the utility of single-stranded conformation polymorphism (SSCP) analysis for screening mutations in the factor XI (fXI) gene, we investigated three patients with heterozygous factor XI deficiency. DNA sequence analysis confirmed three novel mutations; a CGC-->TGC (Arg308Cys) mutation in exon 9, a GCT-->GTT (Ala412Val) mutation in exon 11 and an AGC-->AGA (Ser576Arg) mutation in exon 15. We postulated on the structural implications of these missense mutations. Our results demonstrated that genotypic analysis is a useful tool for conclusive differentiation between heterozygous factor XI deficiency and normal subjects.

引用

页码：763 / 765

页数：3

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