Genetic Study Of Myp6, Mpy7, And Myp8, Loci Of Myopia In Punjabi Families
By: Maria Arshad
| Prof.Dr.Masroor Elahi Babar.
Contributor(s): Dr. Abu Saeed | Dr. Ali Raza Awan.
Material type: 
BookPublisher: 2010Subject(s): Institute of Biochemistry & BiotechnologyDDC classification: 1157,T Dissertation note: Myopia is a refractive abnormality of the eye in which the parallel light rays from an object at optical infinity are focused by the eye in front of the retina rather than on it. It may be syndromic or non-syndromic. An extreme genetic heterogeneity is associated with this disorder. This is the first experimental study on Myopia in Pakistan. So, investigating the loci of myopia here is very important because this disease is spreading day by day with prevalence rate of 36.5%.
Microsatellite markers have been proved as an efficient and powerful tool for discovering any diseased locus. So a panel of these markers was used in this study. Blood samples of various myopic families were collected from various areas of Punjab and their DNA was extracted with the standard protocol. The amplification of DNA was done with primers of microsatellite markers belonging to the loci MYP6, MYP7 and MYP8. Genotyping was done for linkage analysis through PAGE. Haplotypes were made manually by observing the alleles of all the individuals on the gel. The results showed potential linkage against MYP7 locus for the family Myo-3 with autosomal dominant mode of inheritance. This family belongs to the caste "Khawaja" and was enrolled from PCSIR Phase II, Lahore, Punjab. All the affected individuals carried the same allele that was not present in the normal subject. Later the LOD Score for this family was calculated and maximum LOD score came out to be 0.0803 at the marker D11S904 that showed very low percentage of linkage. This can be confirmed by extending the family by further sampling.
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Thesis
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UVAS Library Thesis Section | Veterinary Science | 1157,T (Browse shelf) | Available | 1157,T |
Myopia is a refractive abnormality of the eye in which the parallel light rays from an object at optical infinity are focused by the eye in front of the retina rather than on it. It may be syndromic or non-syndromic. An extreme genetic heterogeneity is associated with this disorder. This is the first experimental study on Myopia in Pakistan. So, investigating the loci of myopia here is very important because this disease is spreading day by day with prevalence rate of 36.5%.
Microsatellite markers have been proved as an efficient and powerful tool for discovering any diseased locus. So a panel of these markers was used in this study. Blood samples of various myopic families were collected from various areas of Punjab and their DNA was extracted with the standard protocol. The amplification of DNA was done with primers of microsatellite markers belonging to the loci MYP6, MYP7 and MYP8. Genotyping was done for linkage analysis through PAGE. Haplotypes were made manually by observing the alleles of all the individuals on the gel. The results showed potential linkage against MYP7 locus for the family Myo-3 with autosomal dominant mode of inheritance. This family belongs to the caste "Khawaja" and was enrolled from PCSIR Phase II, Lahore, Punjab. All the affected individuals carried the same allele that was not present in the normal subject. Later the LOD Score for this family was calculated and maximum LOD score came out to be 0.0803 at the marker D11S904 that showed very low percentage of linkage. This can be confirmed by extending the family by further sampling.
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