Cook J T, Patel P P, Clark A, Höppener J W, Lips C J, Mosselman S, O'Rahilly S, Page R C, Wainscoat J S, Turner R C
Diabetes Research Laboratories, Radcliffe Infirmary, Oxford, UK.
Diabetologia. 1991 Feb;34(2):103-8. doi: 10.1007/BF00500380.
Type 2 (non-insulin-dependent) diabetes is associated with the deposition of islet amyloid. The major formative peptide, islet amyloid polypeptide, has recently been characterised and an abnormality of the structure or expression of this gene is a possible candidate for the inherited component of Type 2 diabetes. A restriction fragment length polymorphism of the gene has been identified with Pvu II. To study the relationship between the islet amyloid polypeptide gene and Type 2 diabetes, two distinct genetic approaches have been undertaken. Firstly, non-linkage has been demonstrated in four pedigrees, with four normoglycaemic first degree relatives having an allele associated with diabetes in other family members, and one affected relative not having the putatively associated allele. The LOD score taking age-related penetrance into account was -1.68, making linkage unlikely (p = 0.02). Secondly, in a population-based restriction fragment length polymorphism survey, no linkage disequilibrium of the alleles was found between a population of unrelated Caucasian subjects with Type 2 diabetes and a normal population. A mutation in or near the islet amyloid polypeptide gene is thus unlikely to be a common cause of Type 2 diabetes.
2型（非胰岛素依赖型）糖尿病与胰岛淀粉样变的沉积有关。主要的形成性肽——胰岛淀粉样多肽，最近已被鉴定，该基因结构或表达的异常可能是2型糖尿病遗传成分的一个候选因素。已用Pvu II鉴定出该基因的一种限制性片段长度多态性。为了研究胰岛淀粉样多肽基因与2型糖尿病之间的关系，采用了两种不同的遗传学方法。首先，在四个家系中已证实无连锁关系，四个血糖正常的一级亲属在其他家庭成员中有与糖尿病相关的等位基因，而一名患病亲属没有假定的相关等位基因。考虑到年龄相关外显率的LOD分数为-1.68，使得连锁不太可能（p = 0.02）。其次，在一项基于人群的限制性片段长度多态性调查中，在一组无关的患有2型糖尿病的白种人人群与正常人群之间未发现等位基因的连锁不平衡。因此，胰岛淀粉样多肽基因内或其附近的突变不太可能是2型糖尿病的常见病因。
