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对３０例起病于４５岁或以前及／或伴糖尿病家族史的中国人常见型非胰岛素依赖型糖尿病（ＮＩＤＤＭ）患者，进行葡萄糖激酶基因（ＧＣＫ）编码区及拼接区分子扫查。就扫查中发现的突变／变异，进一步在５６例ＮＩＤＤＭ者及１３４例非糖尿病患者中筛查，确认其频率。结果表明：①分子扫查未见ＧＣＫ编码区及拼接区突变，提示此类突变不是中国人常见型ＮＩＤＤＭ主要病因。②中国人常见型ＮＩＤＤＭ中，尤其是起病早及伴有明显糖尿病家族史者，可伴ＧＣＫ内含子１ｂ变异，此种变异未见于非糖尿病患者（４．７％比０％，Ｆｉｓｈｅｒ确切Ｐ值＝０．０２２）。此变异是否影响ＧＣＫ表达尚待阐明。
The GCK coding region and the splicing region were scanned in 30 Chinese patients with common non-insulin dependent diabetes mellitus (NIDDM) who were 45 years old or older and / or had a family history of diabetes mellitus. The mutations / mutations found in the scan were further screened in 56 NIDDM patients and 134 non-diabetic patients to confirm their frequency. The results showed that: (1) no mutation in GCK coding region and splicing region was detected by molecular scanning, suggesting that these mutations are not the main cause of common NIDDM in Chinese. ② Chinese common type NIDDM, especially those with early onset and family history of obvious diabetes, may be associated with GCK intron 1b variation, which was not found in non-diabetic patients (4.7% vs 0%, Fisher exact P value = 0.022). Whether this variation affects GCK expression remains to be elucidated.