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Most genetic diseases that cause infertility or infant death are caused by recessive mutations. It should be recognized that variants of DNA sequence are harmless when a person carries one copy when there are instead both copies (a copy of which was inherited from each parent) these mutations, can cause devastating diseases.

Ziyue Gao, from the University of Chicago (Illinois, USA), and colleagues have developed a new approach to estimate the average number of mutations per person, that cause disease when inherited from both parents. The team modeled the genetic profiles of the Hutterites, a religious community who settled in North America in 1870, which take meticulous genealogical records and live a lifestyle in common that guarantees equal access to health care and food. The researchers worked closely with a group of Hutterites of South Dakota for two decades studying the genetic evolution of a family of 13 generations. It 'been used the family tree to estimate the number of recessive mutations in the founding of the group in the 18th and 19th century, using a complete documentation showing the frequency of disorders that cause infertility or death in childhood. Using this information, the team estimated that there were about three mutations of this type for every five people among the founders.


Based on estimates of the proportion of recessive mutations, the team concluded that each founder led 1-2 recessive mutations causing infertility or death before adolescence. 

The researchers speculate that the isolated populations such as those of the study are carriers of fewer harmful recessive mutations than the general population, so we expect a slightly greater number of 1-2 mutations in average per person.

 


Source: Worldhealth

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