播散性浅表光线性汗孔角化病致病基因的定位

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。

Identification of Genetic Locus for Disseminated Superficial Actinic Porokeratosis

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.