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目的研究一个甲状腺激素抵抗综合征家系甲状腺激素受体β(thyroidhormonereceptorβ,TRβ)基因(TRβ)突变情况。方法提取患者及14名家系成员、7名健康对照的外周血基因组DNA,PCR分段扩增TRβ基因的第7~10外显子,产物纯化后直接进行DNA测序检测突变。结果测序结果,该家系中5名成员TRβ基因第10外显子的1642位核苷酸发生C→G的转换突变,该突变为错义突变,使该位点所编码的氨基酸由脯氨酸变为丙氨酸(P453A),同时TRβ基因第7外显子的第1020位核苷酸发生C→T的转换突变,该突变为一同义突变,其所编码的氨基酸仍为苯丙氨酸(F245F),两种突变均为杂合子突变。结论在中国人中发现1例TRβ基因突变所致的甲状腺激素抵抗综合征家系。
Objective To investigate the mutation of TRβ gene in thyroid hormone resistance syndrome pedigree. Methods Peripheral blood genomic DNA of 7 healthy controls and 14 family members were extracted. The 7 th to 10 th exons of TRβ gene were amplified by PCR, and the products were directly purified by DNA sequencing. Results As a result of sequencing, the 1642 nucleotides of the exon 10 of TRβ gene of this pedigree had a C → G transition mutation, and the mutation was a missense mutation so that the amino acid encoded by this locus was proline To alanine (P453A). At the same time, the C → T transition mutation occurred at nucleotide 1020 of exon 7 of TRβ gene. The mutation was a synonymous mutation, and the encoded amino acid was still phenylalanine (F245F), both mutations are heterozygous mutations. Conclusion One thyroid hormone resistance syndrome pedigree induced by TRβ gene mutation was found in Chinese.