播散性浅表光线性汗孔角化病致病基因的定位

Identification of Genetic Locus for Disseminated Superficial Actinic Porokeratosis

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。

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 chromosome12q that had been identified was performed by using7microsatellite mark-ers to scan the family members of DSAP and analysed with LINKAGE(5.1Version).Results A maximum2-point lod score of5.15with marker D12S79at a recombination fraction(θ)=0.00was found.Conclusion Our study supports that DSAP gene localizes at the long arm of chromosome12,which was first reported in the literature.