伴甲状腺发育不全的先天性甲状腺功能减低症病儿PAX8基因突变研究

PAX8GENE MUTATION IN CONGENTINAL HYPOTHYROIDISM WITH THYROID DYSGENESIS

目的对中国济南地区63例伴甲状腺发育不全的先天性甲状腺功能减低症病儿进行PAX8基因突变筛查,阐明PAX8基因突变的类型和特点,为先天性甲状腺功能减低症病儿的基因诊断和治疗提供理论基础。方法采集63例病儿外周血,提取全基因组DNA,PCR扩增PAX8第3外显子,对PCR产物进行直接测序分析。结果病儿PAX8基因第3外显子测序图中均未发现基因突变。结论 PAX8第3外显子突变率很低,可能不是济南地区先天性甲状腺功能减低症病儿的主要致病因素。

Objective To screen mutation of PAX8 gene in 63 patients with thyroid dysgenesis（TD）in Jinan region of China and clarify the features and type of the mutation,so as to provide rationale for gene diagnosis and therapy in children with congenital hypothyroidism（CH）. Methods Peripheral blood samples were collected from 63 TD patients and genomic DNA was extracted.Exon 3of PAX8 gene was analyzed using PCR and direct sequencing. Results An analysis of PAX8 in 63TD patients revealed that no mutations or variations were found in exon 3. Conclusion Our results suggest that PAX8 mutation rate is very low,which is unlikely to be an etiological factor contributing to congenital thyroid dysgenesis in Jinan region.