Maternal DNA Contamination of Chorionic Villi and Population Genetics study in Sickle Cell Anaemia
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Sickle cell anaemia is the most common single gene defect among black population. The two main levels of control are early prenatal diagnosis and premarital counselling and screening. Early prenatal diagnosis is performed on the chorionic villi, which is usually contaminated with DNA from the maternal decidua cells during sampling. Co- amplification of the maternal and fetal DNAis a major challenge during molecular diagnosis using the ARMS PCR protocol. The outcome would be laboratory misdiagnosis. In this study, the ARMS PCR protocolwas used for the molecular diagnosis, followed by analysis of genotypes and alleles in the fetal populationresulting from following assortative mating between the genotype groups that would result in the delivery of haemoglobin genotype SS progeny. Theeffect of maternal DNA contamination of chorionic villi was indirectly studied using DNA extracted from maternal venous blood.The study analysed the frequencies of genotypes and alleles in the fetal population, as well as the general population, with the aim of establishing the trend and deviations from expectations following assortative mating pattern and the fitness of the various haemoglobin genotypes. The frequency of abortion, as well as awareness and acceptance of the procedure among women were also studied. Methodology: Seventy fourpregnancies from AS and AS union had chorionic villous sampling and molecular diagnosis between 11+0 – 13+6 weeks of pregnancy. Homozygous haemoglobin genotype AA or SS were further analysed for the effect of addingdifferent amounts of heterozygous maternal DNA to fixed amount of fetal DNA. Another 74 couples completed questionnaire to determine the gene frequencies among their offspring between the neonatal periods to adulthood.
University of Lagos School of Postgraduate Studies Phd Thesis and Dissertation
Autosomal Dominant , World Health Organization , Sickle Cell Disease , Sickle Cell Anaemia
Oloyede, O.A (2017) Maternal DNA Contamination of Chorionic Villi and Population Genetics study in Sickle Cell Anaemia. University of Lagos School of Postgraduate Studies Phd Thesis and Dissertation