作者: R ZBAR , A RAMESH , C SRISAILAPATHY , K FUKUSHIMA , S WAYNE
DOI: 10.1016/S0194-5998(98)70311-0
关键词: Genetics 、 Consanguinity 、 Allele frequency 、 Gene 、 Disease gene identification 、 Disease gene 、 Audiology 、 Mean frequency 、 Population 、 Medicine 、 Hearing 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.