The Analysis Of Xinjiang Hetian Uygur Family With Maturity Onset Diabetes Mellitus In Youth And The Study Of GCK Gene Polymorphism

Objective:Analysis of clinical characters of Hetian Uygur family with maturity onset diabetes mellitus in youth(MODY)and study the possibility of disease-associated gene mutations in Glucokinase(GCK).Methods:The clinical data of one Hetian Uygur family of 48 persons with MODY were collected and analyzed.The short tandem repeat STR genetic makers of GCK were selected to perform the classical linkage analysis in this family too.Results:There were significance differences between diabetic family and the healthy unrelated controls in body mass index(BMI),systolic blood pressure(SBP),diastolic blood pressure(DBP),total cholesterol(TC),triglyceride (TG),high density lipoprotein cholesterol(HDL-C)(P＜0.05)whereas no difference in waist circumference(WC),low density lipoprotein cholesterol(LDL-C)(P＞0.05).The heterogeneity(H)and the polymorphism information content(PIC)of GCK were 0.7026 and 0.667.The maximal LOD score(θ=0.00)was 2.7156 for the GCK genetic marker.No enough evidence of linkage with MODY2 was found.The percentage of the antibody of pancreaticβcell such as IAA,GAD₆₅,ICA_s all positive was 4%in this family.Conclusions:Even the variation in GCK gene is not the major cause of this family that that no far away.We need more Uygur diabetic families and more genetic sites to improve the role of GCK gene mutation or other MODY types playing in the Uygur diabetes mellitus mechanism.The clinical representations of metabolism syndrome presented in this family to illuminate that in the base of susceptibility of inheritance.The difference of dietetic culture and life style may lead to the augment of the diabetes mellitus persons in this family,and the autoimmune factors may play a role in this family also.