先天性甲状腺功能减退症患儿PAX8基因突变遗传分析

Genetic analysis of PAX8 gene mutation in children with congenital hypothyroidism

目的探讨南宁市先天性甲状腺功能减退症壮族患儿PAX8基因突变及其状况。方法以21例南宁市壮族人群先天性甲状腺功能减退症患儿及其父母为研究对象。经知情同意后,提取患儿及其父母的外周血并提取DNA,用PCR扩增患儿PAX8基因所有11个外显子、外显子一内含子交界区以及3’端和5’端非翻译区,再利用Sanger测序方法对基因扩增产物进行测序。结果在20对父母中发现4例PAX8基因突变,分别为:c.G1058A(p.G353E)杂合子,c.C974T(p.S325F)杂合子,c.C980T(p.S327F)杂合子,c.C962T(p.P321L)杂合子;而21例患儿的PAX8基因均为野生型。结论 21例先天性甲状腺功能减退症壮族患儿发病与父母PAX8基因遗传无相关性,可能存在其他因素或其他基因突变引起先天性甲状腺功能减退症。

Objective To explore the mutation and status of PAX8 gene in the Zhuang nationality children with congenital hypothyroidism in Nanning city. Methods Taking twenty-one children with congenital hypothyroidism and their parents of the Zhuang nationality in Nanning as a research subject. After informed consent, peripheral blood and DNA were extracted from the child and their parents. All 11 exons of PAX8 gene, the exon-intron junction and the 3’ and 5’ untranslated regions of the children were amplified by PCR, the gene amplification products were sequenced with Sanger sequencing. Results 4 case of PAX8 mutations were found in 20 pairs of parents, which were heterozygote c. G1058 A(p.G353 E), c. C974 T(p.S325 F), c. C980 T(p.S327 F), and c. C962 T(p.P321 L), the PAX8 gene in 21 cases was wild-type. Conclusion The 21 children with congenital hypothyroidism of the Zhuang nationality had no correlation with their parents’ PAX8 gene inheritance,there may be other factors or other mutations cause of congenital thyroid function decrease.