Factor XI (Plasma Thromboplastin Antecedent) Deficiency in Ashkenazi Jews is a Bleeding Disorder that Can Result from Three Types of Point Mutations

• Published in: Proceedings of the National Academy of Sciences - PNAS Vol. 86; no. 20; pp. 7667 - 7671
• Main Authors: Asakai, Rei, Chung, Dominic W., Ratnoff, Oscar D., Davie, Earl W.
• Format: Journal Article
• Language: English
• Published: United States National Academy of Sciences of the United States of America 01.10.1989; National Acad Sciences
• Subjects: Adult; Alleles; Amino Acid Sequence; Ashkenazi Jews; Bacteriophages; Base Sequence; Bleeding; Cloning, Molecular; Codon; DNA; DNA - blood; DNA - genetics; Europe - ethnology; Exons; Factor XI - genetics; Factor XI Deficiency - blood; Factor XI Deficiency - genetics; Female; Genes; Genetic mutation; Genomic Library; Genomics; Genotype; Humans; Introns; Jews - genetics; Male; Middle Aged; Molecular Sequence Data; Mutation; Ohio; Polymerase chain reaction; RNA Splicing; RNA, Messenger - genetics; Europe; Ohio
• ISSN: 0027-8424; 1091-6490
• DOI: 10.1073/pnas.86.20.7667

Factor XI (plasma thromboplastin antecedent) deficiency is a blood coagulation abnormality occurring in high frequency in Ashkenazi Jews. Three independent point mutations that result in a blood coagulation abnormality have been identified in the factor XI gene of six unrelated Ashkenazi patients. These mutations either disrupt normal mRNA splicing (type I), cause premature polypeptide termination (type II), or result in a specific amino acid substitution (type III). The three different genotypes were present in the six patients as type I/II, type II/III, and type III/III. Thus far no correlation was found between the three genotypes and the bleeding tendency in these patients.