title: Mass screening for complete deficiency of thyroxine-binding globulin in adult Japanese by comprehensive health examination.
abstract: The incidence of complete thyroxine-binding globulin (TBG) deficiency (TBG-CD) was determined for a Japanese population from a comprehensive health examination, in which a T3 resin uptake test of the upper 5% (78 subjects from among 1,589 men) was the screening line for TBG-CD. Further analysis of the known mutation in TBG-CD gene of the Japanese population (reported as TBG-CDJ with codon 352 deletion) was performed on 72 subjects, and three were found to have TBG-CDJ, two of whom were siblings. Only those three subjects had a serum TBG concentration of less than 5 mg/l. The six subjects for whom the DNA analysis was not performed, did not have a serum TBG level of less than 5 mg/l. From these findings, the gene frequency of TBG-CDJ was calculated to be 0.13%. The incidence of TBG-CDJ in the total Japanese population is suggested to be 0.09%.
authors: Japan Research Foundation for Chronic Diseases and Rehabilitation, Sakuragaoka Hospital, Nishinomiya.
authors: T
authors: T
authors: Noguchi
authors: T
authors: T
authors: Miki
authors: J
authors: J
authors: Takamatsu
authors: T
authors: T
authors: Nakajima
authors: Y
authors: Y
authors: Kumahara
mesh_terms: D000328:Adult; D004247:DNA / Q000235:genetics; D005787:Gene Frequency; D006801:Humans; D007564:Japan; D008297:Male; D008403:Mass Screening; D009154:Mutation; D010808:Physical Examination; D013961:Thyroid Gland / Q000502:physiology; D013975:Thyroxine-Binding Proteins / Q000172:deficiency* / Q000235:genetics; D014284:Triiodothyronine
chemical_list: D013975:Thyroxine-Binding Proteins; D014284:Triiodothyronine; D004247:DNA