Journey into silence - TEC

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Journey into silence

Por (autor),  Pedro León Azofeifa
0 estrellas de 5(0 Calificacion(es))
Formato : ePub
Número de páginas : 160
Edición :1
Fecha de Publicación :2017
Disponible para :




Descripción del libro

In 1604, conqueror Felipe Monje Merino arrived in the New World seeking the prevailing American dream, but after repeated military failures settled in Cartago, Costa Rica, marrying Francisca López with whom he procreated two children. It is not known whether either was deaf, but we know for certain that six generation later three descendants bearing his surname (now changed to Monge) became deaf, after being born with normal audition. Late onset deafness in this family, that begins with low frequency loss, is a dominant genetic mutation that results from a single base mutation, a change of a G for a T.

This book describes the hunt for the mutation that causes deafness, and the discovery of this single-letter change that affects a gene named human diaphanous 1. Diaphanous is one of three similar genes that help regulate the actin cytoskeleton of the hair cells in the organ of Corti, the actual sensors for sound vibrations. The research was the result of a sustained collaboration of the Monge family with many scientists from Costa Rica and the USA.

The book explains how genetics researchers follow cues that lead them to identify culprit genes that cause hearing loss in large families, with dominant autosomal disease. It reveals how the science of gene mapping has evolved and how disease genes are identified when large families are affected. It also demonstrates the power of international scientific collaboration in genetic research.

In a genetic landscape with thousands of genes and about 3 billion letters, how is it possible to find a point-mutation in which a single G is changed for a T to produce deafness. This book tells the story of a family in Costa Rica, traced back to the 17th century, that transmits a dominant, deafness mutation to half their offspring, located on a gene called diaphanous 1. The successful mapping of this deafness gene is described in this book, as the result of a sustained and successful international collaboration between universities in Costa Rica and the USA and the family.