LINKAGE OF TYPE-2 DIABETES TO THE GLUCOKINASE GENE
LINKAGE OF TYPE-2 DIABETES TO THE GLUCOKINASE GENE
复制标题
DOI：
10.1016/0140-6736(92)91958-b
复制
发表时间：
1992-05-30
期刊：
影响因子：
168.9
通讯作者：
WAINSCOAT, JS
中科院分区：
文献类型：
--
作者：
HATTERSLEY, AT;TURNER, RC;WAINSCOAT, JS
年轻人成熟型糖尿病（MODY）是2型糖尿病的一种亚型，从20岁开始出现，具有常染色体显性遗传方式。我们对两个MODY家系的葡萄糖激酶基因进行了研究，在一个包含15名糖尿病成员的5代大家系（BX）中，利用微卫星多态性发现糖尿病与染色体7 p上的葡萄糖激酶位点连锁。在重组分数（θ）为零时获得4.60的峰值lod分数。这一发现表明，葡萄糖激酶基因缺陷有助于该家系的糖尿病表型。这在MODY中并不普遍，因为在第二个谱系M中排除了与葡萄糖激酶基因座的连锁（在θ = 0处lod评分= -7.36）。BX家系中的患病成员在年轻时（妊娠或筛查时）或在中老年时出现糖尿病时被诊断，大多数人仅通过饮食治疗。葡萄糖激酶基因缺陷可能在2型糖尿病的发病机制中起重要作用。
Maturity-onset diabetes of the young (MODY) is a subtype of type 2 diabetes that presents from the second decade and has an autosomal dominant mode of inheritance. We have investigated the glucokinase gene, a candidate gene for diabetes, in two MODY pedigrees.In a large 5-generation pedigree (BX) with 15 diabetic members, use of a microsatellite polymorphism revealed linkage of diabetes to the glucokinase locus on chromosome 7p. A peak lod score of 4.60 was obtained at a recombination fraction (theta) of zero. This finding suggests that a defective glucokinase gene contributes to the diabetes phenotype in this pedigree. This is not universal in MODY since linkage to the glucokinase locus was excluded in a second pedigree M (lod score= -7.36 at theta = 0). The affected members in pedigree BX were diagnosed either when young (in pregnancy or on screening) or when they presented symptomatically in middle and old age; most of them were treated by diet alone.Defects in the glucokinase gene may play an important part in the pathogenesis of type 2 diabetes.