中华皮肤科杂志 ›› 2003, Vol. 36 ›› Issue (6): 335-337.

• 论著 • 上一篇    下一篇

播散性浅表光线性汗孔角化病致病基因的定位

张正华1, 牛振民2, 赵敬军1, 熊晓燕2, 赵嵘2, 朱海明2, 李月彬2, 徐世杰2, 刘维达1, 黄薇2   

  1. 1. 中国医学科学院、中国协和医科大学皮肤病研究所 南京 210042;
    2. 上海国家人类基因组南方研究中心
  • 收稿日期:2002-04-18 出版日期:2003-06-15 发布日期:2003-06-15

Identification of Genetic Locus for Disseminated Superficial Actinic Porokeratosis

ZHANG Zheng-hua1, NIU Zhen-min2, ZHAO Jing-jun1, XIONG Xiao-yan2, ZHAO Rong2, ZHU Hai-ming2, LI Yue-bin2, XU Shi-jie2, LIU Wei-da1, HUANG Wei2   

  1. Institute of Dermatology, Chinese Academy of Medical Sciences, Peking Union Medical College, Nanjing 210042, China
  • Received:2002-04-18 Online:2003-06-15 Published:2003-06-15

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摘要： 目的 对播散性浅表光线性汗孔角化病(DSAP)的致病基因进行定位。方法 收集一个DSAP家系成员的血样抽提基因组DNA,选用12号染色体长臂上已知致病区域的7个微卫星标记进行基因扫描,并用LINKAGE软件(5.1Version)对基因分型结果进行连锁分析。结果 连锁分析结果发现本家系在微卫星标记D12S79的两点最大LOD值为5.15(θ=0.00)。结论 DSAP致病基因位于12号染色体的长臂上。

关键词: 播散性浅表光线性汗孔角化病, 家系, 微卫星标记, 基因扫描, 连锁分析

Abstract: Objective To identify the genetic locus for disseminated superficial actinic porokeratosis(DSAP).Methods Genome DNA was extracted from the whole blood of the family members of a pedigree of DSAP.Genotyping on chromosome 12q that had been identified was performed by using 7 microsatellite markers to scan the family members of DSAP and analysed with LINKAGE(5.1V ersion).Results A maximum 2-point lod score of 5.15 with marker D12S79 at a recombination fraction(θ)=0.00was found.Conclusion Our study supports that DSAP gene localizes at the long arm of chromosome 12,which was first reported in the literature.

Key words: Disseminated superficial actinic porokeratosis, Pedigree, Microsatellite marker, Genecan, Linkage analysis