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目的对一个有2例患者的先天性甲状腺功能减低症家系进行甲状腺过氧化物酶(TPO)基因突变研究。方法对该家系中4名成员采样并提取DNA,用PCR扩增先证者TPO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。结果先证者和其患同病的姐姐为TPO基因c.2268insT突变的纯合子,其父母均为此突变的杂合子。结论 TPO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 thyroid peroxidase (TPO) gene mutation in a pediatric family of congenital hypothyroidism with two patients. Methods Four members of this pedigree were sampled and DNA was extracted. PCR was used to amplify exon, exon - intron junction and 3 ’and 5’ untranslated region of TPO gene in probands. Sequencing was used to detect gene mutations and was compared with other members of the pedigree. Results probands and their sister with the same disease TPO gene c.2268insT homozygous mutation, the parents are heterozygous for this mutation. Conclusion The mutation of TPO gene is one of the causes of congenital hypothyroidism in Chinese population.