Li Hai-fei, Liu Yi-xin, Xie Jian-sheng, Chen Bin, Li Su-li
Department of Child Healthcare, Shenzhen Maternal and Child Health Hospital, Shenzhen 518048, China.
Zhonghua Er Ke Za Zhi. 2011 Aug;49(8):626-30.
To identify thyroid peroxidase (TPO) gene mutations in 35 patients with congenital hypothyroidism.
Genomic DNA was isolated from peripheral blood samples of 35 patients with congenital hypothyroidism. All of the 17 exons and flanking introns of TPO gene were amplified by PCR, then the PCR products were sequenced bi-directionally and were analyzed by restriction endonucleases.
One patient had compound heterozygous mutations c.961A>G/c.2422delT, one was c.2268insT/c.1477G>A, and three was homozygous mutation c.2268insT. The TPO gene mutation c.961A>G [p. Thr321Ala] was one novel mutation.
High frequency mutation in TPO gene was detected in patients with congenital hypothyroidism.
鉴定35例先天性甲状腺功能减退症患者的甲状腺过氧化物酶（TPO）基因突变。
从35例先天性甲状腺功能减退症患者的外周血样本中分离基因组DNA。通过聚合酶链反应（PCR）扩增TPO基因的所有17个外显子及其侧翼内含子，然后对PCR产物进行双向测序，并通过限制性内切酶进行分析。
1例患者有复合杂合突变c.961A>G/c.2422delT，1例为c.2268insT/c.1477G>A，3例为纯合突变c.2268insT。TPO基因突变c.961A>G [p.Thr321Ala]为一新发突变。
先天性甲状腺功能减退症患者中检测到TPO基因的高频突变。
