本文選題：先天性甲狀腺功能減低癥　切入點(diǎn)：DUOXA基因　出處：《中國(guó)當(dāng)代兒科雜志》2017年01期

【摘要】：目的 探討廣州地區(qū)先天性甲狀腺功能減低癥(CH)患兒DUOXA2基因突變特點(diǎn)及其基因型與表型的關(guān)系。方法 采用PCR及直接測(cè)序法,對(duì)2011年至2012年出生、廣州市新生兒篩查中心診斷并排除DUOX2基因突變的20例疑似甲狀腺激素合成障礙的CH患者進(jìn)行DUOXA2基因突變分析。結(jié)果 20例CH患者中2例為p.Y246X/p.Y246X純合突變;4例為單等位基因雜合突變:分別為已知致病突變c.413-414ins A攜帶者2例,p.Y246X攜帶者1例,新突變p.G79R攜帶者1例。2~3歲再評(píng)估時(shí)顯示,2例p.Y246X/p.Y246X純合突變者分別表現(xiàn)為暫時(shí)性CH及輕度永久性CH;4例單等位基因突變者,除1例p.Y246X攜帶者表現(xiàn)為典型永久性CH外,其余3例攜帶者均為暫時(shí)性CH。結(jié)論 DUOXA2基因突變是廣州地區(qū)疑似甲狀腺激素合成障礙性CH患兒較常見(jiàn)的分子發(fā)病基礎(chǔ),多數(shù)表現(xiàn)為暫時(shí)性CH,未發(fā)現(xiàn)DUOXA2基因型與表型的關(guān)系。新突變p.G79R為致病性突變的可能性大。
[Abstract]:Objective to investigate the characteristics of DUOXA2 gene mutation and the relationship between genotype and phenotype in children with congenital hypothyroidism in Guangzhou. Methods PCR and direct sequencing were used to analyze the relationship between DUOXA2 gene mutation and phenotype in children with congenital hypothyroidism from 2011 to 2012. DUOXA2 gene mutation was analyzed in 20 patients with suspected thyroid hormone synthesis disorder diagnosed and excluded from DUOX2 gene mutation in Guangzhou Neonatal screening Center. Results of 20 Ch patients, 2 were p.Y246X/p.Y246X homozygous mutations and 4 were monomorphic. The heterozygous mutation of the locus gene: 2 cases of c.413-414ins A carrier with known pathogenicity, 1 case of Y246X carrier. One case of newly mutated p.G79R carrier at the age of 3 years showed that 2 cases of p.Y246X/p.Y246X homozygous mutation showed transient Ch and 4 cases of mild permanent p.Y246X/p.Y246X mutation, except for one case of p.Y246X carrier with typical permanent Ch. Conclusion the mutation of DUOXA2 gene is a common molecular pathogenesis of suspected thyroid hormone synthesis disorder Ch in Guangzhou area. Most of them showed temporary CH.There was no relationship between DUOXA2 genotype and phenotype. The new mutation p.G79R was more likely to be pathogenicity mutation.
【作者單位】： 廣州市婦女兒童醫(yī)療中心廣州市新生兒篩查中心;廣州市婦女兒童醫(yī)療中心遺傳與內(nèi)分泌科;
，

本文編號(hào)：1698332