Cousins are well-known in Pakistan for marrying each other, which mainly results in genetic diseases because of mutation of genes. This was the topic of discussion at the workshop organized by Dow University’s College of Biotechnology among experts about consanguineous marriages, their prevalence, and consequences. According to Vice Chancellor of the Dow University of Health Sciences, Professor Muhammad Saeed Quraishy, cousin marriages are very common in Pakistan where, it is estimated, around 65% of marriages are accounted for among cousins and sometimes among different ethnicities, the figure can rise to as steep as 85%.
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Cultural, social, business, and political reasons, not to mention several potential biological benefits extending to the future, have made cousin marriages prevalent in Pakistan; however, continuing marriages within families can lead to both types of genetic disorders in children-recessive and dominant. The symposium also welcomed Swedish researchers to contribute their knowledge of genetic disorders that can help manage the conditions in both countries. According to Professor Stylianos E. Antonarakis, University of Geneva, there are 2,980 known recessive disease genes, but the number of unknown genes is expected to be between 8,000 and 9,000.
He explained that the Human Genome Project, which started in 1990 and neared completion in 2002, discovered that every newborn possesses 50 to 100 new mutations absent from their parent. For genomic variability, evolution has a price to pay for its genome disorders. Mutations in one protein-coding gene have gone up from about 1 mutant in the year 1980 to over 5,289 by the year 2024. There are predictions from the experts that, through the years, the projections will reach 1,000 dominants and up to 7,000 recessive mutations. He also mentioned that 10% of all marriages occur among relatives worldwide; one of the beneficial and detrimental genetics is direct unions between first cousins, holding 55 rare homozygous variants.
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Associate Professor Ambrin Fatima, the Aga Khan University, pointed out that Pakistan belongs to the major countries with a high rate of genetic disorders. It leads as one among Islamic nations with cousin marriages. Particularly high is the carrier frequency of thalassemia at 6%, while microcephaly cases in Pakistan rank highest worldwide.