http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.
변환된 중국어를 복사하여 사용하시면 됩니다.
임성희(Sung Hee Ihm),유재명(Jae Myung Yoo),홍성관(Sung Gwan Hong),최문기(Moon Gi Choi),유형준(Hyung Joon Yoo),박성우(Sung Woo Park),윤병수(Byung Soo Yoon) 대한내과학회 1995 대한내과학회지 Vol.49 No.5
N/A Objectives: Thyroxine-binding glogulin (TBG) is a major thyroid hormone transport protein in serum. Its complete deficiency is one of inherited TBG abnormalities that transmit on X-chromosome. Two kinds of a nucleotide substitution or deletion have been shown to cause this hereditary condition in caucasians. In Japanese, a nucleotide deletion at codon 352 of the TBG gene has been shown to be a common cause of complete TBG deficiency. This study was performed to determine the presence of this mutaion in Korean patients with complete TBG deficiency. Methods: The genomic DNAs of 4patients from 2families (2males and 2females) and of 5control subjects were amplified by the polymerase chain reaction with normal (N) and mutant (M) allele specific anti-sense primers and common (C) sense pri- mer. Results: DNA samples from five control subjects were amplified only v;ith a primer pair of C and N. DNAs from two males with phenotype of complete TBG deficiency were amplified only with a primer pair of C and M. DNAs from two females with phenotype of partial TBG deficiency were amplified with both primer pairs. Thus, two male and two female patients were shown to have the mutation as hemizygotes and heterozygotes, respectively. Conclusion: It is concluded that a nucleotide deletion at codon 352 of the THG gene resulting in complete THG deficiency is present among Korean patients. Further study on the prevalence of this mutation in Korean patients with complete TRG deficiency is nesessary.