Passage to India: The Search for Genes Causing Autosomal Recessive Nonsyndromic Hearing Loss:

作者: R ZBAR , A RAMESH , C SRISAILAPATHY , K FUKUSHIMA , S WAYNE

DOI: 10.1016/S0194-5998(98)70311-0

关键词: GeneticsConsanguinityAllele frequencyGeneDisease gene identificationDisease geneAudiologyMean frequencyPopulationMedicineHearing loss

摘要: Hereditary hearing impairment affects approximately 0.05% of all children born in the United States. It is most commonly autosomal recessive, nonsyndromic, and monogenic [autosomal recessive nonsyndromic loss (ARNSHL)]. Although number disease loci not known, some estimates exceed 100. Using a strategy homozygosity mapping to localize ARNSHL genes by screening consanguineous families for chromosomal regions that are homozygous descent, we have mapped several multiplex, nuclear, Tamil Nadu, India. From mean frequency this population, total estimated be 57.

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