Endocrine Journal
Online ISSN : 1348-4540
Print ISSN : 0918-8959
ISSN-L : 0918-8959
Gene Screening of 23 Japanese Families with Complete Thyroxine-Binding Globulin Deficiency
Identification of a Nucleotide Deletion at Codon 352 as a Common Cause
IKUO YAMAMORIYUICHI MORIYOSHITAKA MIURAYOSHIYUKI TANISHUJI IMAMURAYUTAKA OISOHISAO SEO
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1993 Volume 40 Issue 5 Pages 563-569

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Abstract

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.

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© The Japan Endocrine Society
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