Positional Cloning of a Diabetes Gene on Chromosome 11

我们先前已经确定了一个与 体重指数（LOD=3.6）和年龄调整的糖尿病 (LOD=1.7）在chrom 11 q23上-电话。我们目前正在确认， 通过对该区域内的10个标记进行基因分型来细化连锁区域， 地区新增3,000人。我们还创建了一个 物理图谱，通过鉴定重叠的YAC克隆， 染色体11 q上的连锁区。单核苷酸多态性 在每个YAC上识别SNP，并且SNP是 正在对200对信息丰富的同胞进行基因分型SNPs 与BMI或糖尿病相关的基因 定位于BAC克隆。我们还直接分析了所有已知的 该区域的候选基因，包括Apo CIII/Apo AIV 基因簇、载脂蛋白AI和内向整流钾通道 KCNJ5.

We have previously identified a region of linkage to both body mass index (LOD=3.6) and age-adjusted diabetes (LOD=1.7) on chrom 11q23-tel. We are currently confirming and refining the area of linkage by genotyping 10 markers within this region on 3,000 additional individuals. We have also created a physical map by identifying overlapping YAC clones across the region of linkage on chrom 11q. Single nucleotide polymorphisms (SNPs) are being identified on each of the YACs and the SNPs are being genotyped on DNAs from 200 informative sibpairs. SNPs that are associated with either BMI or diabetes are being precisely localized on BAC clones. We are also directly analyzing all known candidate genes in the region, which include the Apo CIII/Apo AIV gene cluster, Apo AI, and the inwardly rectifying potassium channel KCNJ5.