カンノ　ヒトシ   KAN'NO Hitoshi   菅野　仁    所属   医学部 医学科    職種   特任教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	A single amino acid substitution (157 Gly----Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria.
掲載誌名	正式名：Blood 略　 称：Blood ISSNコード：0006-4971(Print)0006-4971(Linking)
巻・号・頁	79(6),pp.1582-5
著者・共著者	Fujii H, Kanno H, Hirono A, Shiomura T, Miwa S
担当区分	2nd著者
発行年月	1992/03
概要	We have determined a single amino acid substitution in a new phosphoglycerate kinase (PGK) variant, PGK Shizuoka, associated with chronic hemolysis and myoglobinuria. PGK Shizuoka had an extremely low enzyme activity with normal kinetic properties and normal electrophoretic mobility. Total blood cell RNA of the patient was reverse-transcribed and amplified by the polymerase chain reaction. A single nucleotide substitution from guanine to thymine at position 473 of PGK messenger RNA was found. This nucleotide change causes a single amino acid substitution from Gly to Val at the 157th position, which is located in the NH2-terminal domain of the enzyme. This mutation creates a new Bst XI cleavagesite in exon 5, and we thus confirmed the mutation in the variant gene. The replacement of Gly by Val is considered to affect enzyme catalysis.
文献番号	1547346