Date of Award
Bachelor of Science Honours
Faculty of Science, Technology and Engineering
Prof Alan Bittles
The project has studied the inheritance of microsatellite alleles across four chromosomes within two multi-generation families from a highly endogamous community, the Sankethi of Karnataka, India. The two families each have members from four generations participating in the study. Finger prick blood samples and detailed pedigree information were collected from subjects in India. DNA was extracted from the blood spot samples using a phenol-chloroform technique, and analysed by spectrophotometry to determine DNA concentrations. Fluorescent markers from chromosomes 15, 16, 17 & 18 were amplified using polymerase chain reaction (PCR) techniques on a Perkin Elmer 96 well thermocycler. The PCR products were then scanned by laser using an ABI PRISMlM 310 Genetic Analyzer to identify the different primer products. Analysis of these results was used to establish homozygosity or heterozygosity at each microsatellite site. The aims of the investigation were to ascertain the alleles present in the community and their frequency, to determine the levels of homozygosity and residual heterozygosity in the study group, and to prepare a genetic characterisation of the community across the chromosomes studied. Due to the small founding size of the community, and their long tradition of endogamy and preferential consanguinity with effective geographical, cultural, and religious isolation, it was assumed that the coefficient of inbreeding (F) would be high. The results of the study indicate that there may be reduced tolerance to homozygosity in certain areas of the genome, with the possibility that some of these regions may coincide with the locations of developmental genes.
Cahill, J. (1997). Homozygosity levels in consanguineous populations: A study of the Sankethi community, Karnataka, India. Retrieved from https://ro.ecu.edu.au/theses_hons/479