For genome sequencing – with the whole family!

The number of new mutations during the change of human generations is estimatedDmitry Safin, Compulenta 

Geneticists from the USA analyzed the genomes of parents and their two children and determined how many new mutations appear with the change of generations.

In the family chosen by the authors, both parents had recessive genes, the action of which led to the fact that the rarest Miller and Cartagener syndromes appeared in the children. Miller syndrome (pictured) is characterized by impaired development of the limbs, upper jaw, cleavage of the palate and is found in one person out of a million.

Cartagenera syndrome, which occurs more often in one person out of 10 thousand, is associated with disorders of the cilia that remove mucus in the respiratory tract. The probability of simultaneous manifestation of both syndromes does not exceed 10-10.

Comparing the decoded genomes, scientists have identified a set of four genes that may be associated with the development of these syndromes.

The researchers also found that the children in this family had about 70 new mutations – about half as many as expected. "The new assessment somewhat transforms our understanding of hereditary variability, but this is far from the main thing," said study participant David Galas from the Institute of Systems Biology. – Another thing is more important: our work marks the beginning of a new stage in the development of genetics, at which information about the genome of each family member becomes of practical importance. Hopefully, in the not too distant future, genome decoding will become a regular part of a person's medical record."

The full version of the report is published in the journal Science (Jared C. Roach et al., Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing).

Prepared based on the materials of Nature News (Janelle Weaver, Genomes for the whole family).

Portal "Eternal youth" http://vechnayamolodost.ru11.03.2010