RESUMO
In order to identify new markers around the glaucoma locus GLC1B as a tool to refine its critical region at 2p11.2-2q11.2, we searched the critical region sequence obtained from the UCSC database for tetranucleotide (GATA)n and (GTCT)n repeats of at least 10 units in length. Three out of four potential microsatellite loci were found to be polymorphic, heterozygosity ranging from 64.56% to 79.59%. The identified markers are useful not only for GLC1B locus but also for the study of other disease loci at 2p11.2-2q11.2, a region with scarcity of microsatellite markers.
RESUMO
In order to identify new markers around the glaucoma locus GLC1B as a tool to refine its critical region at 2p11.2-2q11.2, we searched the critical region sequence obtained from the UCSC database for tetranucleotide (GATA)n and (GTCT)n repeats of at least 10 units in length. Three out of four potential microsatellite loci were found to be polymorphic, heterozygosity ranging from 64.56 percent to 79.59 percent. The identified markers are useful not only for GLC1B locus but also for the study of other disease loci at 2p11.2-2q11.2, a region with scarcity of microsatellite markers.
RESUMO
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.
