A novel insertion mutation (1286insC) in exon 9 of the factor XIII‐A subunit gene
作者:
S. Aslam,
G. Standen,
L. Bruce,
R. Gialeraki,
T. Mandalaki,
期刊:
Blood Coagulation and Fibrinolysis
(OVID Available online 1998)
卷期:
Volume 9,
issue 5
页码: 441-444
ISSN:0957-5235
年代: 1998
出版商: OVID
关键词: factor XIII;insertion;frameshift mutation
数据来源: OVID
摘要:
Molecular studies have been performed on a Greek family with factor XIII-A subunit deficiency. The 15 exons of the A subunit gene were amplified by polymerase chain reaction and analysed by direct nucleotide sequencing. A homozygous single base insertion (1286insC) in exon 9 of the gene was identified in three affected family members. The insertion results in a frameshift and a premature stop signal a short distance downstream at codon 403. Any A subunit protein expressed is likely to be unstable and lack part of the catalytic core domain together with both β barrel domains towards the C-terminal of the molecule. This study contributes to our knowledge of the mutational spectrum in patients with factor XIII-A deficiency.
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