用于快速诊断血红蛋白纽约型（β113（G15）缬氨酸→谷氨酸，β（CD113 GTG→GAG））的等位基因相关突变特异性聚合酶链反应

Allele related mutation specific-polymerase chain reaction for rapid diagnosis of Hb New York (beta 113 (G15) Val-->Glu, beta(CD113 GTG-->GAG)).

作者信息

Viprakasit Vip, Tachavanich Kalaya, Suwantol Lerlugsn, Pung-Amritt Parichat, Chinchang Worawut, Tanphaichitr Voravarn S

机构信息

Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, UK.

出版信息

J Med Assoc Thai. 2002 Aug;85 Suppl 2:S558-63.

PMID:12403232

Abstract

Hemoglobin New York (beta 113 (G15) Val-->Glu), a beta-globin variant, was first reported in a Chinese family living in New York. Subsequently, this abnormal hemoglobin was reported in many Chinese descendants from several groups and it was also known as Hb Kaohsiung. The subtle change in alpha1beta1 contact region apart from the heme group connecting area by Val-->Glu substitution has minor changes in both the electrophoretic mobility and stability making this hemoglobin variant difficult to distinguish from Hb A using routine hemoglobin analysis. The authors described a case of heterozygosity of Hb New York diagnosed by a molecular technique and revealed a mutation in beta(CD113 GTG-->GAG). A novel Allele Related Mutation Specific-Polymerase Chain Reaction (ARMS-PCR) for rapid diagnosis of this mutation has been proposed.

摘要

血红蛋白纽约型（β113（G15）缬氨酸→谷氨酸）是一种β珠蛋白变体，首次在居住于纽约的一个中国家庭中被报道。随后，在多个群体的众多华裔后代中也报道了这种异常血红蛋白，它也被称为高雄血红蛋白。除了通过缬氨酸→谷氨酸替代导致的血红素基团连接区域外，α1β1接触区域的细微变化在电泳迁移率和稳定性方面都有微小改变，使得使用常规血红蛋白分析难以将这种血红蛋白变体与血红蛋白A区分开来。作者描述了一例通过分子技术诊断出的血红蛋白纽约型杂合子病例，并揭示了β（CD113 GTG→GAG）中的一个突变。已经提出了一种用于快速诊断该突变的新型等位基因相关突变特异性聚合酶链反应（ARMS-PCR）。