毛囊闭锁三联征伴Dowling-Degos病一家系致病基因定位研究

J4 ›› 2010, Vol. 36 ›› Issue (5): 942-946.

毛囊闭锁三联征伴Dowling-Degos病一家系致病基因定位研究

杨建强^1,2|高敏²|周伏圣²|王培光²|徐生新²|徐薇³|张学军²|杨森²

1.湖州师范学院医学院门诊部|浙江湖州 313000；2.安徽医科大学皮肤病研究所安徽医科大学第一附属医院皮肤科教育部重要遗传病基因资源利用重点实验室（省部共建）|安徽合肥 |230032；3.首都医科大学附属北京友谊医院皮肤科|北京 100050

收稿日期:2009-11-03 出版日期:2010-09-28 发布日期:2010-09-28
通讯作者: 杨森（Tel：0551-2922235，E-mail：yangsen@medmail.com.cn） E-mail:yangsen@medmail.com.cn
作者简介:杨建强（1974-）|男|浙江省湖州市人|主治医师|医学硕士|主要从事遗传性皮肤病的研究。
基金资助:
国家自然科学基金资助课题（30700722）

Linkage analysis of a follicular occlusion triad coexistent with Dowling-Degos disease family

YANG Jian-Qiang^1,2, GAO Min², ZHOU Fu-Sheng², WANG Pei-Guang², XU Sheng-Xin², XU Wei³, ZHANG Xue-Jun², YANG Sen²

1.Department of Out-patient,Medical School of Huzhou Teachers College,Huzhou 313000,China;2.Institute of Dermatology &|Department of Dermatology,First Hospital,Anhui Medical University,Key Laboratory of Gene Resource Utilization for Severe Genetic Diseases,Ministry of Education and Anhui Province,Hefei 230032,China;3.Department of Dermatology,Beijing Friendship Hospital Affiliated to Capital University of Medical Sciences,Beijing 100050,China

Received:2009-11-03 Online:2010-09-28 Published:2010-09-28

摘要/Abstract

摘要：

目的：通过对一家系4代毛囊闭锁三联征患者进行致病基因连锁分析定位研究，定位毛囊闭锁三联征家系致病基因，探索毛囊闭锁三联征遗传学发病机制。方法：收集毛囊闭锁三联征伴发Dowling-Degos病家系成员血样并提取DNA，作角蛋白5基因扩增和直接测序；选取覆盖1p21.1～1q25.3区域的12个微卫星标记，应用CEQ8800测序仪对该家系个体样本进行微卫星标记的基因分型，利用Linkage软件（5.2 Version）进行连锁分析。结果：该家系成员中未发现角蛋白5基因突变；在染色体1p21.1～1q25.3区域上的微卫星标记处均获得小于－2的LOD值（重组率θ=0.00）。结论：该毛囊闭锁三联征伴发Dowling-Degos病家系与1p21.1～1q25.3区域不存在连锁，毛囊闭锁三联征可能存在遗传异质性。

关键词: 毛囊闭锁三联征；化脓性汗腺炎；痤疮, 寻常；基因定；连锁分析

Abstract:

Abstract:Objective To identify the locus and explore the pathogenesis of follicular occlusion triad by the linkage analysis in a four-generation follicular occlusion triad family. Methods The peripheral blood samples from all of members in this family were collected and genomic DNA was extracted,all of exons and intron-exon boundaries of KRT5 gene were sequenced. Two-point linkage analysis was performed with 12 microsatellite markers at chromosome 1p21.1-1q25.3 using linkage program (5.2 Version). Results No causative mutations were identified in the KRT5 gene and the cumulative maximum two-point LOD score were obtained below －2 at 1p21.1-1q25.3 (at recombination fraction=0.00). Conclusion The previously reported locus at 1p21.1-1q25.3 (61.8 cM) for follicular occlusion triad coexisted with Dowling-Degos disease is excluded in this family. This study indicates that follicular occlusion triad is likely a genetically heterogeneous disorder.

Key words: follicular occlusion triad;hidradenitis suppurativa;acne vulgaris;gene mapping;linkage analysis

中图分类号:

R758.746

杨建强, 高敏, 周伏圣, 王培光, 徐生新, 徐薇, 张学军, 杨森. 毛囊闭锁三联征伴Dowling-Degos病一家系致病基因定位研究[J]. J4, 2010, 36(5): 942-946.

YANG Jian-Qiang, GAO Min, ZHOU Fu-Sheng, WANG Pei-Guang, XU Sheng-Xin, XU Wei, ZHANG Xue-Jun, YANG Sen. Linkage analysis of a follicular occlusion triad coexistent with Dowling-Degos disease family[J]. J4, 2010, 36(5): 942-946.