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Detection of a new mutant α‐1‐antichymotrypsin in patients with occlusive‐cerebrovascular disease
Author(s) -
Tsuda Michio,
Sei Yukari,
Yamamura Masaichi,
Yamamoto Masahiro,
Shinohara Yukito
Publication year - 1992
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/0014-5793(92)80590-d
Subject(s) - exon , single strand conformation polymorphism , point mutation , mutant , mutation , occlusive , polymorphism (computer science) , genetics , medicine , biology , allele , microbiology and biotechnology , gene
A new mutant α‐1‐antichymotrypsin (variant ACT) was found by direct sequencing and PCR‐single strand conformation polymorphism (PCR‐SSCP). This variant ACT was a point mutation of exon V of ACT, with the substitution of Met by Val. Four out of six individuals with this variant ACT had occlusive‐cerebrovascular disease, leading to one hypothesis that there might be an association between this mutation and occlusive‐cerebrovascular disease.