对被发现触珠蛋白 - 约翰逊α基因杂合的受试者的DNA进行分析。

Analysis of DNA from subjects found to be heterozygous for the haptoglobin-Johnson alpha gene.

作者信息

Nagai T, Okazaki T, Yanagisawa Y

机构信息

Department of Forensic Science, School of Allied Health Sciences, Kitasato University, Sagamihara-shi, Kanagawa, Japan.

出版信息

Exp Clin Immunogenet. 1997;14(2):113-7.

PMID:9395886

Abstract

We found two rare Hp Johnson variant families (Hp2-Johnson type and Hp1-Johnson type) by PAGE. It was confirmed by SDS-PAGE that the haptoglobin molecules with the Hp Johnson variant consisted of alpha-2 or alpha-1 and alpha-3 subunits. Direct gene analysis of Hp Johnson heterozygous individuals using three endonucleases: EcoRI, HindIII and BamHI, showed a three-fold tandem repeat of the same 1.7-kb DNA fragment implicated in the Hp alpha-2 gene duplication, and this Hp-Johnson-specific extension was identified in two generations of the Hp2-Johnson and Hp1-Johnson families.

摘要

我们通过聚丙烯酰胺凝胶电泳（PAGE）发现了两个罕见的血红蛋白结合珠蛋白（Hp）约翰逊变异体家族（Hp2-约翰逊型和Hp1-约翰逊型）。十二烷基硫酸钠-聚丙烯酰胺凝胶电泳（SDS-PAGE）证实，具有Hp约翰逊变异体的结合珠蛋白分子由α-2或α-1和α-3亚基组成。使用三种核酸内切酶（EcoRI、HindIII和BamHI）对Hp约翰逊杂合个体进行直接基因分析，结果显示与Hpα-2基因重复有关的相同1.7kb DNA片段出现了三倍串联重复，并且在Hp2-约翰逊和Hp1-约翰逊家族的两代人中都发现了这种Hp-约翰逊特异性延伸。