1例新生儿糖尿病患者家系基因分析

Pedigree analysis of a child with neonatal diabetes

目的对1例新生儿糖尿病患儿进行KCNJ11、ABCC8及INS基因突变检测。方法对1例新生儿糖尿病患儿进行基因组DNA抽提,用PCR方法扩增KCNJ11、ABCC8及INS基因的所有外显子,通过基因直接测序分析该例患儿的基因突变及多态性。结果该例患儿KCNJ11基因中存在2个致病性多态性位点c.67A>AG,p.23K>K/E和c.1009G>GA,p.337V>V/I。结论 KCNJ11基因c.67A>AG,p.23K>K/E和c.1009G>GA,p.337V>V/I变异与新生儿永久性糖尿病相关,进行致病基因的遗传学分析,对于该病的临床分型、治疗方案的确立及遗传学咨询均有着重要的指导意义。

Objectives To investigate KCNJll, ABCC8 and INS gene mutations of a child with neonatal diabetes. Me-thods Genomic DNA was extracted from the peripheral blood of the patient. All exons and the flanking sequences of KCNJll, ABCC8 and INS gene were amplified by PCR, and the PCR products were directly sequenced. Results c.67A〉AG, p.23K〉K/E and c.1009G〉GA, p.337V〉V/I variants in KCNJll gene were characterized in the proband. Conclusions c.67A〉AG, p.23K〉K/ E and c.1009G〉GA, p.337V〉V/I may be associated with permanent neonatal diabetes. Genetic analysis has a very significant value for the therapeutic regimen and genetic counseling of neonatal diabetes.