Alpha-1-antichymotrypsin variant detected by PCR-single strand conformation polymorphism (PCR-SSCP) and direct sequencing

M Tsuda; Y Sei; M Matsumoto; H Kamiguchi; M Yamamoto; Y Shinohara; T Igarashi; M Yamamura

doi:10.1007/BF00220480

Alpha-1-antichymotrypsin variant detected by PCR-single strand conformation polymorphism (PCR-SSCP) and direct sequencing

Hum Genet. 1992 Dec;90(4):467-8. doi: 10.1007/BF00220480.

Authors

M Tsuda¹, Y Sei, M Matsumoto, H Kamiguchi, M Yamamoto, Y Shinohara, T Igarashi, M Yamamura

Affiliation

¹ Department of Molecular Life Science, Tokai University, School of Medicine, Kanagawa, Japan.

PMID: 1339400
DOI: 10.1007/BF00220480

Abstract

A new mutant alpha-1-antichymotrypsin (variant ACT) was found by polymerase chain reaction single strand conformation polymorphism and direct sequencing. In this variant ACT, two bases (AA) were deleted from codon 391. This resulted in a different amino acid sequence downstream of the deletion point, elongating the peptide chain by 10 amino acids.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Sequence
Base Sequence
DNA
Exons
Humans
Molecular Sequence Data
Polymerase Chain Reaction / methods
Polymorphism, Genetic*
Sequence Deletion
alpha 1-Antichymotrypsin / genetics*

Substances

alpha 1-Antichymotrypsin
DNA

Associated data

GENBANK/S52910
GENBANK/S52911
GENBANK/S52912
GENBANK/S52913
GENBANK/S52914
GENBANK/S52928
GENBANK/S78409
GENBANK/S78411
GENBANK/S78413
GENBANK/S78753