【摘要】 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。更多还原

【Abstract】 The molecular scanning of the coding and junction regions of glucokinase gene(GCK)was performed in 30 Chinese subjects of common form non-insulin-dependent diabetes mellitus (NIDDM) with age of onset at or before 45 years, and/or with positive family history of diabetes.Further screening of the mutation/variation found during molecular scanning was conducted in 56 subjects of NIDDM and 134 subjects of non-diabetics in order to define their frequencies. The results showed:①No mutation in coding or junction regions of GCK was found in our group, which suggested that mutation in these regions does not play a significant role in the common form of NIDDM in Chinese.② A variant of intron 1b in GCK was detected in the common form NIDDM in Chinese, especially in those with early age of onset and/or with positive family history of diabetes, but not in non-diabetics (4.7%vs.0%, Fisher exact P=0.022). Its role in the expression of GCK remains to be elucidated.更多还原