| 毛囊闭锁三联征伴Dowling-Degos病一家系致病基因定位研究 |
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| 引用本文： | 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]. 吉林大学学报(医学版), 2010, 36(5): 942-946 |
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| 作者姓名： | 杨建强 高敏 周伏圣 王培光 徐生新 徐薇 张学军 杨森 |
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| 作者单位： | 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 |
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| 基金项目： | 国家自然科学基金资助课题(30700722) |
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| 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。
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| 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 |
| 收稿时间： | 2009-11-03 |
Linkage analysis of a follicular occlusion triad coexistent with Dowling-Degos disease family |
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| 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]. Journal of Jilin University: Med Ed, 2010, 36(5): 942-946 |
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| Authors: | YANG Jian-qiang GAO Min ZHOU Fu-sheng WANG Pei-guang XU Sheng-xin XU Wei ZHANG Xue-jun YANG Sen |
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| Affiliation: | 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 |
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| 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 1p21.1-1q25.3using linkage program(5.2Version).Results No causative mut... |
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| Keywords: | follicular occlusion triad hidradenitis suppurativa acne vulgaris gene mapping linkage analysis |
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