侗族中首例Hb J-Bangkok的一级结构分析

A CASE OF Hb J-BANGKOK IN DONG NATIONALITY AND ITS PRIMARY STRUCTURE ANALYSIS

在湖南新晃县普查发现一例快泳异常血红蛋白,先证者为男性,侗族。先证者及其子女均系杂合子,未见有临床症状,血液学检查正常。经薄层指纹图及氨基酸测序分析其异常肽链结构,证明该异常Hb为Hb J-Bangkok[α_2β_2^(56(D7))Gly→Asp]。此系在我国侗族中发现的首例。

A primary structure analysis of a fast migrating hemoglobin variant found in a family of Dong-nationality in Hunan province by electrophoresis screening is reported. The propositus was a heterozygote, both his son and daughter carry the same variant, and all of them have no apparent clinical manifestation. The primary structure of the isolated aminoethylated globin chain was analyzed by thin layer finger printing and DABITC / PITC double coupling amino acid sequencing, and the abnormal hemoglobin was identified to be Hb J-Bangkok [α2β256 (D7) Gly→Asp].This is the first case heterozygous of Hb J-Bangkok found in Dong-nationality in China and strongly supports the hypothesis that the Hb J-Bangkok gene may originate from south China.