CAJ | 학술논문

目的研究一甲状腺激素抵抗综合征家系的甲状腺激素受体β( thyroid hormone reecptorβ)的基因突变情况.方法提取患者及其家系5名成员的外周血基因组DNA,PGR分段扩增TRβ基因1-10号外显子,产物直接进行DNA测序检测突变位点.结果测序结果显示,该家系中有2名成员TRβ基因第10外显子1642位核苷酸发生C转换为A的错义突变,使该位点所编码的氨基酸由脯氨酸变为苏氨酸(P453T),此种突变为杂合子突变.结论经基因测序检测诊断证实患者TRβ基因第10外显子存在P453T突变,该突变可能导致了甲状腺激素抵抗综合征发生.
목적 연구일갑상선격소저항종합정가계적갑상선격소수체β( thyroid hormone reecptorβ)적기인돌변정황.방법 제취환자급기가계5명성원적외주혈기인조DNA,PGR분단확증TRβ기인1-10호외현자,산물직접진행DNA측서검측돌변위점.결과 측서결과현시,해가계중유2명성원TRβ기인제10외현자1642위핵감산발생C전환위A적착의돌변,사해위점소편마적안기산유포안산변위소안산(P453T),차충돌변위잡합자돌변.결론 경기인측서검측진단증실환자TRβ기인제10외현자존재P453T돌변,해돌변가능도치료갑상선격소저항종합정발생.
Objective To detect the gene mutation of thyroid hormone receptor β ( TRβ ) in a family with thyroid hormone resistance syndrome.Methods The genomic DNA was extracted from peripheral blood leukocytes of the patient and his 5 family members.The exons 1-10 ofTRβ gene were amplified by PCR.The products of PCR were sequenced directly to detect the gene mutation.Results Two members of this family were confirmed to have the C y A transition mutation at nucleotide 1642 site within exon 10 of TRβ gene,which was a missense mutation causing the substitution of Proline to Threonine (P453T).The mutation was Heterozygous.Conclusions It was confirmed that the patient has TRβ gene mutation P453T in exon 10.The mutation may lead to the occurrence of thyroid hormone resistance syndrome.