A Clinical And Scientific Research Of A Chinese Family With Visual Disorder

A Clinical and Scientific Research of A Chinese Family with Visual DisorderPurposeThe diagnosis of a Chinese family with visual disorder is pathological myopia.The purpose of this study is to elucidate the genetic basis of Chinese family with pathological myopia by linkage mapping.MethodsOne Chinese family with pathological myopia was collected for this study.A detailed clinical examination of the eye was performed for all patients in this family.The genomic DNA of twenty family members were extracted from peripheral blood leukocytes,according to the standard methods of protocol.Polymorphic markers were selected from the regions which harbor all known loci linked with pathological myopia. The markers were amplified by polymerase chain reaction(PCR). Fragments were separated by electrophoresis through 12%polyacrylamide gels.Haplotypes were constructed manually according to the pattern of the bands on the gels.Two-point lod scores were calculated using the subroutine Mlink of the Linkage package(version5.2)ResultsThe lod score of each selected marker with pathological myopia in Chinese family was negative.ConclusionAll known candidate genes associated with pathological myopia were excluded from the family,and a new disease-causing locus maybe exist in this family.