Dissertation
Dissertation > Medicine, health > Ophthalmology > Eye dioptrics > Eye application dioptrics > Myopia

Linkage Mapping of Chinese Family with Autosomal Dominant Pathological Myopia

Author PengHaiYing
Tutor LiuLongQian
School Sichuan University
Course Ophthalmology
Keywords pathological myopia Linkage Analysis Autosomal Dominant
CLC R778.11
Type Master's thesis
Year 2006
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[Purpose]The purpose of this study is to elucidate the genetic basis of Chinese family with pathological myopia by linkage mapping. [Methods]Four Chinese families(CJH, TKH, YGM, CY) with pathological myopia were collected for this study, but only the family of CJH was performed the linkage mapping for some reason. A detailed clinical examination of the eye was performed for all patients in this family. The genomic DNA of all 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 PM. 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( version 5.2). [Results]The lod score of each selected marker vs PM in CJH family was negative. [Conclusion]All known candidate genes associated with PM were excluded from the family, and a new disease-causing locus maybe exist in this family.

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