By Admin 
In the world, Pakistan comes at the top in the cases of cousin marriage i.e. marriage between cousins, cousins and cousins. According to the World Population Review’s 2023 data, about 61.2 percent of marriages in Pakistan take place within blood relations. Scientific research has long shown that marriage within the same family or blood relations increases the risk of serious genetic diseases in future generations. Doctors believe that in such cases, children are more likely to have genetic disorders, congenital diseases and many serious health problems.
But now a new research has revealed something shocking. According to this research, about 34,000 such people have been found in Pakistan who are being called human knockouts. This means that at least one gene in his body has stopped working completely, but despite this there was no major negative impact on his health.
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What does human knockout mean?
If we understand the meaning of human knockout, there are two copies of every gene in the human body, one from the mother and the other from the father. When both copies of a particular gene become inactive or disappear completely in a person, it is called human knockout. If there is a marriage within relatives, the chances of getting the same mutation from both the parents increases. For this reason, some genes may be completely switched off in children. In this study published in the journal Nature on June 17, 1,73,303 genomes were studied. This is considered to be one of the biggest genomic research in South Asia. The purpose of this research is to better understand human genetics and help in the development of new medicines.
Research related matter in India
Danish Saleheen, a professor at Columbia University Vagelos College of Physicians and Surgeons, said that South Asians constitute about 25 percent of the world’s population, but their share in the global genomic database is only 2 percent. In such a situation, research on South Asian genome can prove to be very important for medical science. Similar research was done in India also under the Genome India Project. In this, DNA of 9,768 healthy people from 83 groups of the country was analyzed. In this study, about 4.4 crore such genetic variants were found which were not previously recorded in the global database. This shows that gene diversity is very high in South Asia.
Pakistan Genome Resource
Working on the Pakistan Genome Resource, scientists found that almost one in five people is completely missing at least one gene. During the research, about 6,500 such genes were found which had become completely inactive. This research is very important for scientists because it helps in understanding which genes are actually necessary for the body and without which genes a person can live a normal life. Usually scientists experiment on rats for gene research, but the behavior of genes may be different in humans and rats. For this reason, many medicines which work on rats do not show any effect on humans.
Surprising results emerged in the study
Many surprising results emerged in this study. For example, the RXFP1 gene was considered essential for the heart in mice, but no major health problems were seen in humans who did not have this gene. Similarly, PRDM9 gene is essential for the reproductive capacity of rats, but its absence in humans did not have any significant impact on reproduction. Research also revealed that people who did not have the CIDEB gene had less risk of liver diseases. With this, scientists hope that in future new medicines can be developed to treat diseases like fatty liver.
What is the connection between genes and Parkinson’s disease?
However, in some cases this research also gives warnings. For example, kidney-related problems were seen in people who did not have the LRRK2 gene. This gene is considered important in the research of medicines for Parkinson’s disease. From this, scientists understood that while using such medicines, it would be necessary to monitor the effect on the kidneys. Scientists believe that such research can save pharmaceutical companies from spending crores of rupees on medicines that have little chance of being successful. Besides, it can also open the way for the development of new and more effective medicines.
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