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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。
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.
[1]Meixner D,Schneider S,Krause M,et al.Acne inversa[J].J Dtsch Dermatol Ges,2008,6(3):189-96.
[2]Gao M,Wang P G,Cui Y,et al.Inversa acne(hidradenitis sup-purativa):a case report and identification of the locus at chromo-some1p21.1～1q25.3[J].J Invest Dermatol,2006,126(6):1302-6.
[3]Sellheyer K,Krahl D."Hidradenitis suppurativa"is acne inversa!An appeal to(finally)abandon a misnomer[J].Int J Dermatol,2005,44(7):535-40.
[4]Jansen T,Altmeyer P,Plewig G.Acne inversa(alias hidradeni-tis suppurativa)[J].J Eur Acad Dermatol Venereol,2001,15(6):532-40.
[5]Fitzsimmons J S,Fitzsimmons E M,Gilbert G.Familial hidradenitis suppurativa:evidence in favour of single gene transmission[J].J Med Genet,1984,21(4):281-5.
[6]Von Der Werth J M,Williams HC,Raeburn J A.The clinical ge-netics of hidradenitis suppurativa revisited[J].Br J Dermatol,2000,142(5):947-53.
[7]王培光,林达,王红艳,等.毛囊闭锁三联症一家系调查[J].临床皮肤科杂志,2006,35(01):42-3.
[8]徐薇,赵俊英,赵绘,等.毛囊闭锁性三联征一例及家系分析[J].中华皮肤科杂志,2005,38(03):157-9.
[9]王文岭.毛囊闭锁三联症一家系调查[J].临床皮肤科杂志,2003,32(11):674.
[10]McLean W HI,Wood P,Irvine A D,et al.Mapping of two genetic loci for autosomal dominant hidradenitis suppurativa[J].Experi-mental Dermatology,2006,15(6):478-82.
[11]陈小英,郑捷.表皮分化复合物和皮肤病[J].国际皮肤性病学杂志,2006,32(03):185-7.
[12]Hoffjan S,Stemmler S.On the role of the epidermal differentiation complex in ichthyosis vulgaris,atopic dermatitis and psoriasis[J].Br J Dermatol,2007,157(3):441-9.
[13]张学军.复杂疾病的遗传学研究策略[J].安徽医科大学学报,2007,42(3):237-40.
基本信息:
DOI：10.19405/j.cnki.issn1000-1492.2009.03.003
中图分类号:R758.746
引用信息:
[1]杨建强,高敏,周伏圣,等.毛囊闭锁三联征一家系致病基因精细定位研究[J].安徽医科大学学报,2009,44(03):295-298.DOI:10.19405/j.cnki.issn1000-1492.2009.03.003.
基金信息:
国家自然科学基金项目(编号:30700722)
2009-06-23
2009-06-23