人促甲状腺激素受体基因外显子1突变分析：D36H和P52T多态性变体的高频率

Analysis of mutations in exon 1 of the human thyrotropin receptor gene: high frequency of the D36H and P52T polymorphic variants.

作者信息

Simanainen J, Kinch A, Westermark K, Winsa B, Bengtsson M, Schuppert F, Westermark B, Heldin N E

机构信息

Department of Genetics and Pathology, University Hospital, Uppsala, Sweden.

出版信息

Thyroid. 1999 Jan;9(1):7-11. doi: 10.1089/thy.1999.9.7.

DOI:10.1089/thy.1999.9.7

PMID:10037069

Abstract

The aim of the present study was to investigate the N-terminal part (the translated part of exon 1) of the human thyrotropin receptor (TSHR) for the presence of mutations. Patients with Graves' disease (n = 160) and healthy controls (blood donors; n = 140) were screened using single-stranded conformational polymorphism (SSCP) in combination with restriction enzyme digestion for the two previously known mutations in this part of the receptor, viz. D36H and P52T TSHR-variants. We did not find any novel mutation in this region. However, D36H and P52T variants were found both in the TSHR of Graves' patients and in the healthy controls. The overall frequency of the D36H-receptor variant was 5.0% (15/300) and of the P52T-receptor, 7.3% (22/300). There was no major difference in the frequency for either of the TSHR alleles between the 2 groups. Thus, these 2 polymorphic variants of the TSHR seem to occur in a relatively high frequency in the population.

摘要

本研究旨在调查人类促甲状腺激素受体（TSHR）N端部分（外显子1的翻译部分）是否存在突变。采用单链构象多态性（SSCP）结合限制性内切酶消化法，对160例格雷夫斯病患者和140例健康对照者（献血者）进行筛查，以检测该受体这一部分先前已知的两种突变，即D36H和P52T TSHR变体。我们在该区域未发现任何新的突变。然而，在格雷夫斯病患者的TSHR和健康对照者中均发现了D36H和P52T变体。D36H受体变体的总体频率为5.0%（15/300），P52T受体的频率为7.3%（22/300）。两组之间TSHR等位基因的频率没有显著差异。因此，TSHR的这两种多态性变体在人群中的出现频率似乎相对较高。