Positional Cloning of a Diabetes Gene on Chromosome 11

我们之前已经确定了一个与 体重指数(LOD=3.6)和年龄调整糖尿病 (LOD=1.7)在铬11q23-tel上。我们目前正在确认和 通过对该区域内的10个标记进行基因分型来精炼连锁区域 该地区新增了3,000人。我们还创建了一个 通过识别重叠的YAC克隆绘制物理地图 染色体11q上的连锁区。单核苷酸多态 (SNPs)正在每个YAC上被识别，SNPs是 在来自200个信息性同胞对的DNA上进行基因分型。SNPs 与体重指数或糖尿病有关的疾病 已本地化在BAC克隆上。我们还在直接分析所有已知的 该区域的候选基因，包括Apo CIII/Apo AIV 基因簇、载脂蛋白AI与内向整流钾通道 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.