Screening For Causing Genes In Autosomal Dominant Retinitis Pigmentosa

PART I SCREENING FOR KNOWN LOCI IN A CHINESE FAMILY WITH AUTOSOMAL DOMINANT RETINITIS PIGMENTOSAObjective: To map gene on chromosomes in a Chinese family with autosomal dominant retinitis pigmentosa.Methods: Randomly selected 27 micro-satellite markers from the region around the known loci of causative genes, harboring Haplotype was determined by ABI3100 genetic analysizer. Two-point linkage analysis was performed using MLINK.Results: The Lod Score of each marker vs adRP are below 1. Conclusions: In genetics, a statistical estimate of whether two loci are likely to lie near each other on a chromosome and are therefore likely to be inherited together as a package. LOD stands for logarithm of the odds. A LOD score of three or more is generally taken to indicate that two gene loci are close to each other on the chromosome. (A LOD score of three means the odds are a thousand to one in favor of genetic linkage). A LOD score of negative two or less is generally taken to indicate that two gene loci are far to each other on the chromosome. All LOD score above are less than 1, so thephenotype of this family is little possibility caused by mutation of the known genes.PART II WHOLE GENESCAN FOR CHINESE FAMILY WITH AUTOSOMAL DOMINANT RETINITIS PIGMENTOSAObjective: To map new genes on chromosomes in a Chinese family with autosomal dominant retinitis pigmentosa by the whole genescan.Methods: Scaning the whole genome in a Chinese family with autosomal dominant retinitis pigmentosa by HumanLinkage-12 Genotyping BeadChip. Two-point linkage analysis was performed using MLINK.Result: The Lod Score of rs3112985 and rs2113417 are more than three,which are located in Chromosome 2; The Lod Score of rs10757309 and rs1128953 are more than three,which are located in Chromosome 9.Conclusions: In genetics, a statistical estimate of whether two loci are likely to lie near each other on a chromosome and are therefore likely to be inherited together as a package. LOD stands for logarithm of the odds. A LOD score of three or more is generally taken to indicate that two gene loci are close to each other on the chromosome. The data above indicate that the causing genes may located in chromosomes 2 and 9, and there isn't any reported loci located in chromosome 9 yet.