【摘要】 目的对1例毛囊闭锁三联征家系进行连锁分析精细定位研究,确定其致病基因位点。方法应用覆盖1号染色体1p21.1～1q25.3区域的17个微卫星标记对该家系进行基因分型、连锁分析和单倍型分析。结果在1号染色体上的微卫星标记D1S2707处获得最大LOD值为2.11(重组率θ=0.00)。通过单倍型分析将该家系致病基因定位在微卫星标记D1S2715和D1S484之间的染色体1q21.3～1q23.2区域。结论该研究提示1p21.1～1q25.3(61.8cM)是毛囊闭锁三联征致病基因连锁区域,并将致病基因支持连锁范围缩小至1q21.3～1q23.2(9.8cM)区域。更多还原

【Abstract】 Objective To identify and refine the susceptibility locus for 1 case follicular occlusion triad in a Chinese family by linkage analysis.Methods Two-point linkage analysis was performed with 17 microsatellite markers at chromosome 1p21.1～1q25.3 using linkage program and haplotype.Results A locus was identified at 1q21.3～1q23.2 with a cumulative maximum two-point LOD score of 2.11 at microsatellite marker D1S2 707 (at recombination fraction θ=0.00). Haplotype analysis indicated that the disease gene was located within 9.8 cM region between markers D1S2 715 and D1S484.Conclusion This study verify the previous locus at 1p21.1～1q25.3(61.8 cM) and refine the suggestive locus for follicular occlusion triad to 9.8 cM interval at 1q21.3～1q23.2.更多还原