Analysis of gene mutation of a family with maturity - onset diabetes of the young
Yue Hao
Ren Lei
Guo Feng
Qin Guijun
Abstract：Objective To analyze the gene mutation of a family with maturity - onset diabetes of the young in Henan Prov-ince. Methods The clinical gene mutation of a family with maturity - onset diabetes of the young in Henan Province were ana-lyzed. Results A 15 year - old boy was referred to Department of Endocrinology for hyperglycemia for 3 months. The tests of OGTT,Insulin and C - peptide release tests showed he suffered from diabetes,but the insulin antibodies were all negative and no diabetic complication was found. Four people in three generations were diagnosed as diabetes in his family. There was a mutation c. 1174 G > T in GCK gene. It verified the family was a typical MODY2 pedigree. Conclusion A novel c. 1174G > T mutation was found in GCK gene,which might be linked to this MODY2 pedigree in Henan Province.
Keywords：maturity - onset diabetes of the youngglucokinase genemutation
Publication Date：2015-01-01
Online Publishing Date：2026-09-12(First online date of this platform, not the publication date of the document)
Pages：3( 11-13 )