Detection of a new mutant alpha-1-antichymotrypsin in patients with occlusive-cerebrovascular disease.
A new mutant alpha-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.
Tsuda
M
M
Department of Biochemistry, Tokai University, School of Medicine, Kanagawa, Japan.
Sei
Y
Y
Yamamura
M
M
Yamamoto
M
M
Shinohara
Y
Y
D001483:Base Sequence; D002560:Cerebrovascular Circulation; D002561:Cerebrovascular Disorders / Q000201:enzymology*; D004247:DNA; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D000514:alpha 1-Antichymotrypsin / Q000235:genetics* / Q000378:metabolism
D000514:alpha 1-Antichymotrypsin; D004247:DNA