Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations.
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.
Asakai
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Department of Biochemistry, University of Washington, Settle 98195.
Chung
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Ratnoff
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Davie
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D000328:Adult; D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D003001:Cloning, Molecular; D003062:Codon; D004247:DNA / Q000097:blood / Q000235:genetics; D005060:Europe / Q000208:ethnology; D005091:Exons; D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency / Q000097:blood / Q000235:genetics*; D005260:Female; D005796:Genes; D015698:Genomic Library; D005838:Genotype; D006801:Humans; D007585:Jews / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009820:Ohio; D012326:RNA Splicing; D012333:RNA, Messenger / Q000235:genetics
D003062:Codon; D012333:RNA, Messenger; D004247:DNA; D005172:Factor XI