先天性甲状腺功能减低症的Pax8基因研究  

Pax8 Gene in Congenital Hypothyroidism

作　　者：黄晓东[1] 顾学范[1] 沈永年[1] 张雅芬[1] 叶军[1] 陈瑞冠[1] 

机构地区：[1]上海儿科医学研究所/上海第二医科大学附属新华医院,上海200092

出　　处：《中国当代儿科杂志》2002年第4期279-280,共2页Chinese Journal of Contemporary Pediatrics

基　　金：上海高校科学技术发展基金 (99B15 )

摘　　要：目的　探讨Pax8基因在先天性甲状腺功能减低症 (甲低 )病因学中的地位。方法　对 5 0例经内分泌专科门诊或新生儿筛查检出确诊的先天性甲状腺功能减低症患者 ,从外周血白细胞中提取基因组DNA ,采用PCR SSCP DNA测序方法进行Pax8基因外显子 2～ 9分析。结果　Pax8基因外显子 2～ 9编码区未发现突变。结论　Pax8基因编码区的结构改变 ,在中国人甲低的病因学中可能不具有重要地位。Objective To investigate the role of Pax8 in the pathogenesis of congenital hypothyrodism. Methods Genomic DNA was extracted from peripheral blood lymphocytes and PCR SSCP Direct DNA sequencing was applied to study exon 2～exon 9 of Pax8 gene in fifty patients who had been detected by neonatal screening or endocrinologists and diagnosed as having congenital hypothyroidism. Results No mutation was demonstrated in the encoding regions of Pax8 gene. Conclusions Structural changes in Pax8 gene may not play an important role in pathogenesis of primary congenital hypothyroidism.

关 键 词：甲状腺机能减低症 先天性 Pax8基因 单链构象多态性分析 儿童 

分 类 号：R725.8[医药卫生—儿科]