Haplotype analysis of two families with X-linked retinitis pigmentosa / 第三军医大学学报

Objective To identify the disease locus in X-linked retinitis pigmentosa (RP) families using genetic linkage analysis. Methods Five microsatellite markers were selected from the RP2, RP3, RP6, RP23 and RP24 gene loci, respectively. Haplotype analysis for two X-linked RP families was performed to determine the critical region. Two-point linkage analysis was performed using MLINK program. Results In FYJ and ZCF X-linked RP families, the LOD score was 1.18 and 1.03 at DXS 993, 0.58 and -2.69 at DXS 1068, -2.33 and -2.45 at DXS 1214, -2.34 and -2.51 at DXS 8051, -2.23 and -2.62 at DXS 8043. Conclusion The phenotype of ZCF family is not caused by mutation of RP3, RP6, RP23, RP24 gene, and FYJ family may be linked to RP2 or RP3 gene.