A molecular genetic study of factor XI deficiency.

Published

Journal Article

Factor XI deficiency is a rare bleeding diathesis found predominantly in Ashkenazi Jewish kindreds. A recent study of six Jewish patients identified three distinct mutations (Types I, II, and III) in the factor XI gene that were sufficient to fully define the genotypes of the patients. We have investigated 63 patients with factor XI deficiency and find overall allele frequencies of 44% for the type II mutation, 31% for the type III mutation, and 0% for the type I mutation. Therefore, 25% of the mutant factor XI alleles in our sample remain undefined. However, the distribution of mutant alleles is significantly different between Jewish and non-Jewish populations with hitherto undefined mutations accounting for 84% of the disease alleles in non-Jewish patients. Plasma factor XI:C levels were found to differ significantly between different homozygous and compound heterozygous genotypes and the inheritance of the II/III genotype was found to carry an increased risk of the most severe bleeding tendency.

Full Text

Cited Authors

  • Hancock, JF; Wieland, K; Pugh, RE; Martinowitz, U; Schulman, S; Kakkar, VV; Kernoff, PB; Cooper, DN

Published Date

  • May 1, 1991

Published In

Volume / Issue

  • 77 / 9

Start / End Page

  • 1942 - 1948

PubMed ID

  • 2018835

Pubmed Central ID

  • 2018835

International Standard Serial Number (ISSN)

  • 0006-4971

Language

  • eng

Conference Location

  • United States