पाकिस्तान में कजिन से शादी के चलन से ऐसा क्या हो रहा कि वैज्ञानिक हुए हैरान – cousin marriage in Pakistan Shocking study kyun cousin marriage karna hai khatarnak tvisp
Pakistan ranks first in the world in terms of cousin marriage (marriage between cousins and cousins). According to the data published in 2023 in America’s prestigious organization ‘World Population Review’, the rate of marriage within blood relations in Pakistan is about 61.2%.
All the scientific research that has come out from time to time confirms that marrying people from the same genetic pool or blood relations can prove to be extremely dangerous for the future generations. Doctors and scientists believe that the risk of genetic disorders i.e. serious genetic disorders and many fatal diseases increases manifold in children born from these marriages.
But a new research has revealed that Pakistan About 34,000 people in the United States are ‘human knockouts’, that is, people in whom at least one gene has stopped working and this has no significant effect on their health.
What is ‘Human Knockout’
In scientific terms, when a particular gene of the body becomes completely inactive or disappears, then it is called Human Knockout. Normally humans have two copies of each gene (one from the mother and one from the father). Due to marriage within blood relations, children get the same mutation from both the parents due to which a particular gene completely disappears from their body.
According to a study published in ‘Nature’ on June 17, these findings are part of one of the largest South Asian genomic studies in which 1,73,303 genomes from the country were assessed. The objective of this research was to understand the development of human genetics and help in the creation of necessary medicines.
Surprising results found in the study
Danish Saleheen, professor of medical sciences and director of global genomics at Columbia University Vagelos College of Physicians and Surgeons, said in a press release, ‘The participation of South Asians in genome studies has been very low. Despite constituting 25 percent of the world’s population, their share in the global genomic database is only 2 percent. But the South Asian genome has specific characteristics that are shaped by population history and cultural practices. This can become the basis for such major breakthroughs in the medical field around the world that will benefit patients everywhere.
India In a similar research ‘Genome India Project’, the complete DNA of 9,768 healthy people from 83 groups across the country was analyzed. In this, about 4.4 crore such genetic variants were found which were not in the global database, which is quite surprising.
Shortcomings in genetic research
It has been two decades since Saleheen started building the ‘Pakistan Genome Resource’ at the Center for Non-Communicable Diseases in Karachi. What he realized then was that studies conducted on the Amish community of America since the 1960s were indicating that in communities where there is a high rate of marriage between cousins or relatives, researchers get a special kind of advantage in the matter of genetic studies.
…..Due to the similar structure of genes in such communities due to marriage within the same family, it becomes very easy for scientists to discover and understand rare genetic mutations and their effect on the human body, which is almost impossible to find in the general population.
Children of closely related parents inherit the same genetic mutations, including changes that cause certain genes to become inactivated. Such ‘knock out’ cases give scientists the opportunity to see how a human does without a particular gene and whether there are certain genes that can be ‘turned off’ to treat diseases.
Researchers found that almost one in five people included in the Pakistan Genome Resource is missing at least one gene. During the study, they identified approximately 6,500 genes that had become inactive (switched off).
Saliheen said, ‘The special thing about our Pakistan study is that we can go back to the research participants and do detailed medical examinations to see what kind of impact the missing gene might have on the person.’
Why is there an opportunity for ‘knockout’ scientists?
Gene-related discoveries often occur when scientists remove certain genes in mice to see what effect it has on their health. But research is showing that genes often work differently in humans and mice. For this reason, many medicines that work on rats do not work on humans, resulting in millions of dollars, time and effort being wasted.
Saleheen said, ‘We want to identify people who do not have a working copy of the gene and want to see whether this has any effect on their health.’
This is exactly what was done in a recent study.
Research revealed that people who did not have the RXFP1 gene, which was previously thought to be essential for the heart of rats to function, did not have any health problems. Even the PRDM9 gene, which is essential for the fertility of mice, had no effect on the fertility of humans.
This type of research gives huge clues for the discovery and manufacture of medicines. The study found that people who do not have the CIDEB gene are protected from liver diseases. This suggests that CIDEB inhibitors may be a treatment for fatty liver disease.
In some cases, gene deficiency can also alert doctors. Experimental Parkinson’s drugs often target the LRRK2 gene, but this study showed that people who did not have this gene had more kidney problems. Scientists now know that they should monitor the kidney function of people taking medications for Parkinson’s.
Saleheen said, ‘The pharmaceutical industry has been facing the problem of side effects for many decades. Our database can save companies from spending millions of dollars on drugs that are likely to fail. It can also encourage them to move forward.
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