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收集和田地区维吾尔族MODY家系成员48人的临床资料,并对GCK基因微卫星多态遗传标志进行连锁分析。结果与正常对照组在BMI、SBP、DBP)、TC、TG、HDL有统计意义(P<0.05)。WC,LDL无统计学意义(P>0.05)。家系GCK基因的杂合度(H)和多态信息量(PIC)分别为0.7026、0.667,最大Lod值=2.7156(θ=0.00),未发现与MODY2连锁的依据。IAA、GAD65和ICAS均为阳性者在此家系阳性率为4%。结论此家系的主要致病基因不是GCK基因,此家系存在代谢综合征的临床表现,同时提示自身免疫因素参与这个糖尿病家系的发病。
The clinical data of 48 members of Uygur MODY pedigree in Hetian area were collected, and the genetic markers of GCK gene microsatellite polymorphism were analyzed by linkage analysis. The results were statistically significant (P <0.05) in the BMI, SBP, DBP), TC, TG and HDL levels compared with the control group. WC, LDL had no statistical significance (P> 0.05). The degree of heterozygosity (H) and polymorphism information (PIC) of GCK genes were 0.7026 and 0.667, respectively, and the maximum Lod value was 2.7156 (θ = 0.00). No basis for linkage with MODY2 was found. The positive rate of IAA, GAD65 and ICAS in this family was 4%. Conclusion The major causative gene of this pedigree is not GCK gene. The clinical manifestations of metabolic syndrome exist in this pedigree. Simultaneously, autoimmune factors are involved in the pathogenesis of this diabetic pedigree.