CLOSE LINKAGE OF GLUCOKINASE LOCUS ON CHROMOSOME-7P TO EARLY-ONSET NON-INSULIN-DEPENDENT DIABETES-MELLITUS
CLOSE LINKAGE OF GLUCOKINASE LOCUS ON CHROMOSOME-7P TO EARLY-ONSET NON-INSULIN-DEPENDENT DIABETES-MELLITUS
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DOI：
10.1038/356162a0
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发表时间：
1992-03-12
期刊：
影响因子：
64.8
通讯作者：
COHEN, D
中科院分区：
文献类型：
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作者：
FROGUEL, P;VAXILLAIRE, M;COHEN, D
非胰岛素依赖型糖尿病（NIDDM）是一个主要的健康问题，影响世界人口的5%。遗传因素在NIDDM中很重要，但导致葡萄糖耐受不良的机制尚不清楚1，2。在多代家庭中研究了遗传连锁，以定位并最终鉴定NIDDM易感基因。在这里，我们报告的葡萄糖激酶基因座染色体7 p和糖尿病之间的联系，在16个法国家庭与成熟期发病的糖尿病的年轻人，一种形式的NIDDM的特点是单基因常染色体显性遗传和早期发病年龄3。遗传异质性的统计学证据是显着的，估计45-95%的16个家庭显示与葡萄糖激酶的联系。由于葡萄糖激酶是血糖稳态的关键酶4，这些结果证明参与葡萄糖代谢的基因可能与NIDDM的发病机制有关。
NON-INSULIN-DEPENDENT diabetes mellitus (NIDDM) is a major health problem, affecting 5% of the world population. Genetic factors are important in NIDDM, but the mechanisms leading to glucose intolerance are unknown 1,2. Genetic linkage has been investigated in multigeneration families to localize, and ultimately identify, the gene(s) predisposing to NIDDM. Here we report linkage between the glucokinase locus on chromosome 7p and diabetes in 16 French families with maturity-onset diabetes of the young, a form of NIDDM characterized by monogenic autosomal dominant transmission and early age of onset 3. Statistical evidence of genetic heterogeneity was significant, with an estimated 45-95% of the 16 families showing linkage to glucokinase. Because glucokinase is a key enzyme of blood glucose homeostasis 4, these results are evidence that a gene involved in glucose metabolism could be implicated in the pathogenesis of NIDDM.