Gene Screening of 23 Japanese Families with Complete Thyroxine-Binding Globulin Deficiency: Identification of a Nucleotide Deletion at Codon 352 as a Common Cause

Autor:	Yuichi Mori, Hisao Seo, Yoshiyuki Tani, Yoshitaka Miura, Yutaka Oiso, Ikuo Yamamori, Shuji Imamura
Rok vydání:	1993
Předmět:	Genetics Mutation biology Globulin Endocrinology Diabetes and Metabolism Binding protein Heterozygote advantage medicine.disease_cause law.invention Thyroxine-binding globulin Endocrinology law medicine biology.protein Gene Polymerase chain reaction Thyroid hormone transport
Zdroj:	Endocrine Journal. 40:563-569
ISSN:	1348-4540 0918-8959
Popis:	Thyroxine-binding globulin (TBG) is a major thyroid hormone transport protein in human serum. Its complete deficiency (TBG-CD) is one of inherited TBG abnormalities that transmit on X-chromosome. We previously reported a nucleotide deletion at codon 352 of the TBG gene (TBG-CDJ) in Japanese families with TBG-CD. To determine the prevalence of this mutation in Japanese with TBG-CD, 23 affected subjects (19 males and 4 females) belonging to unrelated families living in 4 major islands of Japan were analyzed with regard to the mutation at codon 352. Their genomic DNAs were amplified by the polymerase chain reaction with allele specific primers. Nineteen male and four female subjects were shown to have the mutation as hemizygotes and heterozygotes, respectively. It is concluded that TBG-CDJ may be a common cause of TBG-CD in Japanese and might have appeared in the ancestors of the Japanese after the human race divergence.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::8e262b52732c1adea7d41b74b0ac8f59 https://doi.org/10.1507/endocrj.40.563 Zobrazit plný text záznamu