Mutations in exon 7 of the GTP-binding protein Gs alpha were not a common cause of pseudohypoparathyroidism with Albright's hereditary osteodystrophy in Japanese.

Abstract:

:The identification of unique point mutations in patients with pseudohypoparathyroidism (PHP) with Albright's hereditary osteodystrophy (AHO) in different ethnic backgrounds has proved that defects within the Gs alpha gene account for Gs alpha deficiency in those patients. To search a mutation hot spot of the Gs alpha gene in Japanese patients, we have screened exons 2-13 of the Gs alpha gene for mutations in three unrelated Japanese PHP patients with AHO. We could find no abnormalities by denaturing gradient gel electrophoresis and no mutations of sequencing of exon 7 in these subjects. This suggests that mutations in exon 7 of the Gs alpha gene may not be a common cause of PHP with AHO in Japanese.

journal_name

Endocr J

journal_title

Endocrine journal

authors

Takeda K,Yokoyama M,Hashimoto K,Hiromatsu Y,Yamanaka H,Shimizu T,Sasaki M

doi

10.1507/endocrj.44.621

subject

Has Abstract

pub_date

1997-08-01 00:00:00

pages

621-5

issue

4

eissn

0918-8959

issn

1348-4540

journal_volume

44

pub_type

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