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目的 探索 MODY相关基因的染色体突变及临床 MODY确诊方法。方法 运用 FISH测定 MODY患者周围淋巴细胞染色体突变位点 ,并应用 PCR进行验证。结果 在 86例 5～ 35岁 2型糖尿病患者中检出 HNF- 1α突变4例 ,HNF- 4α基因突变 3例 ,GCK基因突变 6例。结论 FISH技术比传统细胞遗传学方法更敏感 ,应用 FISH法可对该病进行症状前诊断与确诊 ,并与 1型糖尿病进行本质区分。
Objective To explore the chromosomal mutation of MODY related genes and the clinical diagnosis of MODY. Methods FISH was used to determine the chromosomal aberrations of lymphocytes in patients with MODY and the results were verified by PCR. Results Among the 86 type 2 diabetic patients aged 5 to 35 years, 4 cases of HNF-1α mutation, 3 cases of HNF-4α gene mutation and 6 cases of GCK gene mutation were detected. Conclusion FISH is more sensitive than traditional cytogenetic methods. The FISH method can be used to diagnose and diagnose the disease preliminarily and to distinguish it from type 1 diabetes.