血红蛋白科亚多拉[α142，末端→丝氨酸（α2基因中的终止密码子TAA>TCA）]：一种与α地中海贫血相关的α2基因终止密码子罕见突变。

Hb Koya Dora [alpha142, Term-->Ser (TAA>TCA in alpha2)]: a rare mutation of the alpha2 gene stop codon associated with alpha-thalassemia.

作者信息

Brennan Stephen O, Ryken Sheila, Chan Tim

机构信息

Molecular Pathology Laboratory, University of Otago, Christchurch, New Zealand.

出版信息

Hemoglobin. 2010;34(4):402-5. doi: 10.3109/03630269.2010.486344.

DOI:10.3109/03630269.2010.486344

PMID:20642339

Abstract

Hb Constant Spring [(Hb CS) alpha142, Term-->Gln (TAA>CAA in alpha2)] and Hb Koya Dora [alpha142, Term-->Ser (TAA>TCA in alpha2)] both involve mutations of the alpha2 gene stop codon and while Hb CS is the most frequent cause of nondeletional alpha-thalassemia (alpha-thal) in Southeast Asia, Hb Koya Dora is limited to a restricted population from Andhra Pradesh, India. Here we identify a homozygous case of Hb Koya Dora and confirm the structure of the 31 residue alpha chain extension.

摘要

血红蛋白恒河泉（[Hb CS]α142，终止密码子→谷氨酰胺（α2基因中TAA>CAA））和血红蛋白小矢多拉[α142，终止密码子→丝氨酸（α2基因中TAA>TCA）]均涉及α2基因终止密码子的突变，虽然Hb CS是东南亚非缺失型α地中海贫血（α-地贫）最常见的病因，但血红蛋白小矢多拉仅限于印度安得拉邦的特定人群。在此，我们鉴定出一例血红蛋白小矢多拉纯合子病例，并确认了31个氨基酸残基的α链延伸结构。