甲状腺素结合前白蛋白基因多态性：一项群体研究。

Thyroxine-binding prealbumin gene polymorphism: a population study.

作者信息

Akbari M T, Fitch N J, Farmer M, Docherty K, Sheppard M C, Ramsden D B

机构信息

Department of Medicine, University of Birmingham, Queen Elizabeth Hospital, UK.

出版信息

Clin Endocrinol (Oxf). 1990 Aug;33(2):155-60. doi: 10.1111/j.1365-2265.1990.tb00478.x.

DOI:10.1111/j.1365-2265.1990.tb00478.x

PMID:1977535

Abstract

The human thyroxine-binding prealbumin (TBPA) gene was examined for restriction fragment length polymorphism (RFLP) in normal subjects and a subject with euthyroid hyperthyroxinaemia, due to increased thyroxine binding by TBPA, using 16 restriction enzymes. Only Taq I and Msp I were shown to detect RFLPs. In a male of the normal population and one of his daughters, an additional Taq I site was found in the 3'-flanking region of the TBPA gene. The RFLP in a subject with euthyroid hyperthyroxinaemia was due to the deletion of a MspI site. All three subjects with RFLPs were heterozygous.

摘要

利用16种限制性内切酶，对正常受试者以及一名甲状腺功能正常但甲状腺素水平升高（因甲状腺素结合前白蛋白（TBPA）结合甲状腺素增加所致）的受试者的人类TBPA基因进行限制性片段长度多态性（RFLP）检测。结果显示，只有Taq I和Msp I能检测到RFLP。在一名正常男性及其一个女儿中，发现TBPA基因的3'侧翼区域存在一个额外的Taq I位点。甲状腺功能正常但甲状腺素水平升高的受试者中的RFLP是由于MspI位点缺失所致。所有三名具有RFLP的受试者均为杂合子。