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目的对中国山东地区先天性甲状腺功能减低症(简称甲低)患者PAX8第4外显子进行基因突变筛查,阐明中国山东地区甲低患者PAX8基因第4外显子突变特点。方法 453例标本来自山东甲状腺发育不全的先天性甲低患者,从外周血白细胞中提取全基因组DNA扩增PAX8第4外显子,对PCR产物进行直接测序分析。结果分析453例PAX8第4外显子测序结果未发现突变,但在1例患者第4内含子发现1个IVS4+83 T>C突变,在第4内含子区发现1个SNP位点(rs74370449,IVS4+101 G/A,变异频率为8.9%)。结论 PAX8基因第4外显子突变率在中国山东地区甲低患者中极低,PAX8第4内含子的突变可能与先天性甲低相关。
Objective To investigate the mutation of exon 4 of PAX8 gene in patients with congenital hypothyroidism (Hypothyroidism) in Shandong Province of China, and to elucidate the mutation of exon 4 of PAX8 gene in patients with hypothyroidism in Shandong Province of China. Methods A total of 453 specimens of congenital hypothyroidism with hypothyroidism in Shandong Province were collected. Whole genome DNA was extracted from peripheral blood leukocytes to amplify exon 4 of PAX8. The PCR products were directly sequenced. RESULTS: No mutations were found in sequencing results of 453 PAX8 exons 4, but one IVS4 + 83 T> C mutation was found in intron 4 and 1 SNP in intron 4 (rs74370449, IVS4 + 101 G / A, mutation frequency 8.9%). Conclusion The mutation rate of exon 4 of PAX8 gene is extremely low in patients with hypothyroidism in Shandong, China. The mutation of intron 4 of PAX8 may be associated with congenital hypothyroidism.