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Endogamy and Genetic Disorders UPSC NOTE

 


Endogamy

  • Endogamy is the cultural practice of mating—usually in the form of marriage—within a specific social group, religious denomination, caste, or ethnic group, rejecting those from others as unsuitable for marriage or other close interpersonal relationships. 

  • Endogamy is common in many cultures and ethnic groups. 

  • Endogamy, as distinct from consanguinity, may result in transmission of genetic disorders, the so-called founder effect, within the relatively closed community.

Endogamy and Genetic Disorders

  • In 2009, a study reported a fascinating finding on why a small group of Indians were prone to cardiac failure at relatively young ages. 

  • They found that the DNA of such individuals lacked 25 base-pairs in a gene crucial for the rhythmic beating of the heart (scientists call it a 25-base-pair deletion).

  • Intriguingly, this deletion was unique to the Indian population and, barring a few groups in Southeast Asia, was not found elsewhere. 

  • They estimated that this deletion arose around 30,000 years ago, and affects roughly 4% of the Indian population today.

  • In a recent study researchers collected DNA from around 5,000 individuals, mainly people from across India, Pakistan, and Bangladesh. This cohort also contained DNA from some Malay, Tibetan, and other South-Asian communities.

  • Their study found stark genetic differences between people from different regions of the subcontinent. 

  • While this is to be expected between different countries in the region, it was actually evident even at the level of smaller geographies within India.

  • It is a no-brainer that endogamous practices (including caste-based, region-based, and consanguineous marriages) in the subcontinent are responsible for such conserved genetic patterns at the community level. 

  • In an ideal scenario, there would have been random mating in a population, leading to greater genetic diversity and lower frequency of disorder variants. 

  • The study also highlighted a worrying trend in the Indian population. 

  • Compared with a relatively outbred population, like that of Taiwan, the South Asian cohort – and within it, the South-Indian and Pakistani subgroups – showed a higher frequency of homozygous genotypes.

  • Humans typically have two copies of each gene.

  • When an individual has two copies of the same variant, it is called a homozygous genotype.

  • Most genetic variants linked to major disorders are recessive in nature and exert their effect only when present in two copies. 

    • Having different variants – being heterozygous – is usually protective.

  • The South Indian and Pakistani subgroups were estimated to have a high degree of inbreeding, while the Bengali subgroup showed significantly lower inbreeding. 

  • The reasons for this are unclear but could be cultural in nature. 

  • At the same time, the three subgroups had 300-600-times higher levels of rare homozygous variants than what would have been predicted if the matings had been random.

  • The study indicated how our cultural aspects might need mending for the sake of population health. 

  • This is obviously fraught with sensitivities owing to deep-rooted customs and biases.

  • But we must move away from the idea of genetic puritanism because it will be the simplest way to prevent major hereditary disorders.

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Learnerz IAS | Concept oriented UPSC Classes in Malayalam: Endogamy and Genetic Disorders UPSC NOTE
Endogamy and Genetic Disorders UPSC NOTE
Learnerz IAS | Concept oriented UPSC Classes in Malayalam
https://www.learnerz.in/2023/08/endogamy-and-genetic-disorders-upsc-note.html
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https://www.learnerz.in/2023/08/endogamy-and-genetic-disorders-upsc-note.html
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