Dominant Inheritance Of Myopia Linked Loci Myp10 And Myp11
By: Saira Nabi
| Mr. Asif Nadeem.
Contributor(s): Mr. Muhammad Imran | Prof.
Material type: 
BookPublisher: 2010Subject(s): Institute of Biochemistry & BiotechnologyDDC classification: 1215,T Dissertation note: Myopia, a refractive error is one of the most common ocular disorders worldwide with elongation of axis of the eyeball. Genetic plays an important role in the development of myopia. Familial myopia is common in Pakistan. The aim of the study was to find out the dominant inheritance through linkage analysis and molecular characterization of Myopia in Pakistani myopic families and also to determine the presence of loci (MYP 10 and MYP1 1).
Six families with three or more affected individuals in two or more ioops were enrolled from different areas of Lahore. The persons with refractive error equal or worse than -l were considered as myopic. Out of the total 36 samples, 26 were myopic.
For the each locus, 3 markers were designed .Polyacrylamide Gel electrophoresis (PAGE) was used for genotyping of amplified DNA samples. Haplotypes of all the families were constructed based on the PAGE results to check weather a family is linked or unlinked to those loci. Result of allele haplotyping were analysed to evaluate the linkage of Myopia loci and dominant inheritance in Pakistani families. No linkage was found for any of those selected families. The negative results for these chromosomal regions have several possible reasons; sample size, family size and ethnicity of the families are the major reasons for these negative results. Although there was no linkage for the loci MYP10 and MYP11, this would be the first molecular investigation of the Myopia loci MYP10 and MYP11 in Pakistani families. The findings of the proposed study will be vital for victim familes in terms of genetic testing, genetic counseling, for designing a management plan and resource alloction for victims.
| Item type | Current location | Collection | Call number | Status | Date due | Barcode | Item holds |
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Thesis
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UVAS Library Thesis Section | Veterinary Science | 1215,T (Browse shelf) | Available | 1215,T |
Myopia, a refractive error is one of the most common ocular disorders worldwide with elongation of axis of the eyeball. Genetic plays an important role in the development of myopia. Familial myopia is common in Pakistan. The aim of the study was to find out the dominant inheritance through linkage analysis and molecular characterization of Myopia in Pakistani myopic families and also to determine the presence of loci (MYP 10 and MYP1 1).
Six families with three or more affected individuals in two or more ioops were enrolled from different areas of Lahore. The persons with refractive error equal or worse than -l were considered as myopic. Out of the total 36 samples, 26 were myopic.
For the each locus, 3 markers were designed .Polyacrylamide Gel electrophoresis (PAGE) was used for genotyping of amplified DNA samples. Haplotypes of all the families were constructed based on the PAGE results to check weather a family is linked or unlinked to those loci. Result of allele haplotyping were analysed to evaluate the linkage of Myopia loci and dominant inheritance in Pakistani families. No linkage was found for any of those selected families. The negative results for these chromosomal regions have several possible reasons; sample size, family size and ethnicity of the families are the major reasons for these negative results. Although there was no linkage for the loci MYP10 and MYP11, this would be the first molecular investigation of the Myopia loci MYP10 and MYP11 in Pakistani families. The findings of the proposed study will be vital for victim familes in terms of genetic testing, genetic counseling, for designing a management plan and resource alloction for victims.
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