Gene Mapping Of A Hereditary Hypotrichosis Simplex Family

Objective To collect pedigree of hereditary hypotrichosis simplex. To identify the gene for hereditary hypotrichosis simplex by positional cloning or positional candidate cloning technique and clarify the pathogenesis of hereditary hypotrichosis simplex more clearly. Methods We collected the pedigree members' clinical data and blood samples. Afterwards the genomic DNA of peripheral blood were extracted. And then we undertook a genome-wide scan with microsatellite marker which was bought from ABI company. The results were genotyped by Genescan and Genotyper software. Finally lingkage analysis was processed by Linkage software package. Thus the region of disease gene was defined primarily. For fine mapping of the gene, a further microsatellite markers within the region were tested. We screened the human genomic database (http://genome.ucsc.edu/) and found some candidate genes at this region. Results We collected a congenital alopecia pedigree and quite complete pedigree members' clinical data. Genomic DNA of pedigree members were extracted and conserved. A genome-wide scan with microsatellite marker was processed . We obtained the maximum two point LOD scores of 3.74 at microsatellite marker D13S217(θ=0.00). Thus we mapped the disease gene at 19.0cM region between microsatellite marker D13S175 and D13S171. Then by fine mapping and haplotypes construction, the region of disease gene was narrowed to 2.28cM between marker D13S221 and D13S1244, i.e. chromosome 13ql2.13~12.2. We screened the human...