中文摘要：

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lp21．1～1q25．3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0=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。

英文摘要：

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 lp21.1-1q25.3 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 0 = 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.