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目的对一个先天性甲状腺功能减低症家系进行二元氧化酶成熟因子2(DUOXA2)基因突变研究。方法对该家系中4名成员采样并提取DNA,用wafergen验证检测先证者甲状腺过氧化物酶(TPO)基因、二元氧化酶2(DUOX2)基因和二元氧化酶成熟因子2(DUOXA2)基因。PCR扩增先证者DUOXA2基因各外显子、外显子-内含子交界区以及3′端和5′端非翻译区,以DNA测序技术检测DUOXA2基因突变,并与该家系中其他成员进行对照分析。结果先证者为DUOXA2基因c.413_414ins A突变和c.537C>A突变的复合杂合子,其父亲及胞姐均为c.537C>A突变杂合子,其母亲为c.413_414ins A突变的杂合子。结论 DUOXA2基因突变是中国人群先天性甲状腺功能减低症发生的原因之一。
Objective To investigate the mutation of DUOXA2 gene in a pedigree with congenital hypothyroidism. Methods Four members of this pedigree were sampled and DNA was extracted. The thyroid peroxidase (TPO) gene, DUOX2 gene and binary oxidase maturation factor 2 (DUOXA2) gene. PCR amplification of proband DUOXA2 gene exons, exon-intron junction and 3 ’and 5’ untranslated region, DUOXA2 gene mutation detection by DNA sequencing technology, and with other members of the family Control analysis. Results The proband was a heterozygous heterozygote of c.413_414ins A mutation and c.537C> A mutation of DUOXA2 gene, whose father and sister sister were heterozygous for c.537C> A mutation and their mothers were c.413_414ins A mutated heterozygote Zizi. Conclusions DUOXA2 gene mutation is one of the causes of congenital hypothyroidism in Chinese population.