[Disease gene screening of known loci in a Chinese family with autosomal dominant retinitis pigmentosa]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Feb;26(1):70-3. doi: 10.3760/cma.j.issn.1003-9406.2009.01.016.
[Article in Chinese]

Abstract

Objective: To map the disease-causing gene in a Chinese family with autosomal dominant retinitis pigmentosa.

Methods: Twenty-seven micro-satellite markers were randomly selected from the region around the known loci of causative genes, and haplotypes were determined by ABI3100 genetic analyzer. Two-point linkage analysis was performed using MLINK.

Results: The Lod score of each marker vs adRP was below 1.

Conclusion: The phenotype of this family may not be caused by mutation of the known disease-causing genes.

MeSH terms

  • Asian People / genetics*
  • China
  • Female
  • Genes, Dominant*
  • Genetic Linkage
  • Genetic Testing*
  • Humans
  • Male
  • Microsatellite Repeats / genetics
  • Mutation
  • Pedigree*
  • Phenotype
  • Retinitis Pigmentosa / diagnosis*
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / pathology