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The Screening for Mutation in the Thyrotropin(TSH) Receptor Gene

등록일
2005년 2월 17일 15시 50분 48초
접수번호
0994
발표코드
23P184포 이곳을 클릭하시면 발표코드에 대한 설명을 보실 수 있습니다.
발표시간
금 <발표Ⅱ>
발표형식
포스터
발표분야
생명화학
저자 및
공동저자
남윤형, 박상범, 박대용, 이재식, 강원, 장원철
단국대학교 첨단과학대학 화학과,
Congenital hypothyroidism(CH) is the most frequent congential defect of the endocrine system, characterized by a reduced biological impact of thyroid hormone on metabolic processes throughout the body. The pathogenesis of hypothyroidism due to thyroid dysgenesis is still unknown. A point mutation in the TSHR(thyroid stimulating hormone receptor) of the hypothyroid human invoked the TSHR as a candidate gene for hypothyroidism. Therefore, we screened for mutations in the TSHR gene in patients with congenital hypothyroidism. DHPLC and subsequent DNA sequencing studies of a fragment of TSHR gene showed that the patient is a compound heterozygote for mutation in exon 1(Pro52Thr), intron 6(A13G) and exon 10(Arg450His). Further studies will have to analyze to what extent TSHR mutations are involved in the pathogenesis of congenital hypothyroidism as opposed to other genetic genes.

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