乌得勒支血红蛋白[α2 129(H12)亮氨酸→脯氨酸]，一种与轻度α地中海贫血表型相关的新型不稳定α2链变体。

Hb Utrecht [alpha 2 129(H12)Leu-->Pro], a new unstable alpha 2-chain variant associated with a mild alpha-thalassaemic phenotype.

作者信息

Harteveld C L, Giordano P C, Losekoot M, Heister J G, Batelaan D, van Delft P, Bruin M C, Bernini L F

机构信息

Department of Human Genetics, University of Leiden, The Netherlands.

出版信息

Br J Haematol. 1996 Sep;94(3):483-5. doi: 10.1046/j.1365-2141.1996.d01-1828.x.

DOI:10.1046/j.1365-2141.1996.d01-1828.x

PMID:8790146

Abstract

We describe a new alpha 2-globin gene point mutation found in six individuals of a three-generation Dutch family. The mutant, which is associated with a mild alpha-thalassaemic phenotype, is not detectable at the protein level. The alpha 2 cd129 (CTG-->CCG) transition was found by molecular analysis using denaturing gradient gel electrophoresis (DGGE) and single-strand conformation analysis (SSCA) followed by direct sequencing of the alpha 2-globin gene. Southern analysis revealed a triplication of the zeta-gene in cis with the mutant alpha-globin gene.

摘要

我们描述了在一个三代荷兰家庭的六名成员中发现的一种新的α2 -珠蛋白基因突变。该突变体与轻度α地中海贫血表型相关，在蛋白质水平上无法检测到。通过使用变性梯度凝胶电泳（DGGE）和单链构象分析（SSCA）进行分子分析，随后对α2 -珠蛋白基因进行直接测序，发现了α2 cd129（CTG→CCG）转换。Southern分析显示ζ基因与突变的α珠蛋白基因顺式重复。