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RJ Olds, DA Lane, G Finazzi, T Barbui and SL Thein
MRC Molecular Haematology, John Radcliffe Hospital, Oxford, England.
Type 1 antithrombin III (ATIII) deficiency, which is the commonest form of
inherited ATIII defect, is characterized by a quantitative reduction in
both immunologically and functionally detectable protein. This condition is
associated with a high incidence of thromboembolic disorder. Previous
investigations have shown that the ATIII genes in the majority of cases are
grossly intact, but the precise underlying molecular defects remain
unknown. We have investigated the molecular basis of a type 1 ATIII
deficiency in an Italian kindred by enzymatic amplification of the ATIII
gene sequences in affected family members and direct sequencing of the
amplified genomic DNA. A novel mutation, the deletion of a single T in the
second position of codon 119, was identified in each of the affected
individuals. The resulting frameshift leads to a premature termination in
codon 126, effectively resulting in a null allele.
This article has been cited by other articles:
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| Copyright © 1990 by American Society of Hematology Online ISSN: 1528-0020 | |||||||||
