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

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

Simanainen, J. (author): Uppsala universitet,Institutionen för genetik och patologi

Kinch, Amelie (author): Uppsala universitet,Institutionen för genetik och patologi

Westermark, Kerstin (author): Uppsala universitet,Institutionen för medicinska vetenskaper

Winsa, Brita (author): Uppsala universitet,Institutionen för medicinska vetenskaper

Bengtsson, Mats (author): Uppsala universitet,Institutionen för onkologi, radiologi och klinisk immunologi,KITM

Schuppert, F. (author)

Westermark, Bengt (author): Uppsala universitet,Institutionen för genetik och patologi

Heldin, N. E. (author): Uppsala universitet,Institutionen för genetik och patologi

(creator_code:org_t)

Abstract Subject headings

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.

By the author/editor: Simanainen, J.; Kinch, Amelie; Westermark, Kers ...; Winsa, Brita; Bengtsson, Mats; Schuppert, F.; show more...; Westermark, Beng ...; Heldin, N. E.; show less...

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