一个新的葡萄糖激酶基因-E339K突变导致的中国人青少年发病的成年型糖尿病2型家系

Identification of a novel glucokinase-E339K mutation in a Chinese maturity onset diabetes of the young 2 pedigree

目的寻找一个典型的青少年发病的成年型糖尿病2型（MODY2）家系的责任基因。方法抽提MODY家系成员基因组DNA，PCR扩增、直接测序候选基因葡萄糖激酶（GCK）基因5′端、3′端非翻译区及1～10号外显子，确认突变。结果在MODY2家系中确认了一个新型的GCK-E339K突变，该突变与糖尿病或糖耐量异常共分离。结论GCK—E339K突变可能与该MODY2家系相关，是该MODY2家系的责任基因。

Objective To identify the related gene for a typical maturity onset diabetes of the young 2 （MODY2） pedigree. Methods The genomic DNA of all the members of the pedigree was extracted and then PCR amplification on 5′, 3′ untranslated region and exon 1-10 of glncokinase （GCK） gene was carried out. Sequencing in both directions was performed to identify mutation on GCK gene. Results A novel GCK-E339K mutation which was cosegregated with diabetes/impaired glucose tolerance was identified. Conclusion The novel GCK-E339K mutation might be linked to this MODY2 pedigree.