Literature DB >> 9527113

Passage to India: the search for genes causing autosomal recessive nonsyndromic hearing loss.

R I Zbar1, A Ramesh, C R Srisailapathy, K Fukushima, S Wayne, R J Smith.   

Abstract

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 hearing loss (ARNSHL)]. Although the number of disease loci is not known, some estimates exceed 100. Using a strategy of homozygosity mapping to localize ARNSHL genes by screening consanguineous families for chromosomal regions that are homozygous by descent, we have mapped several genes in multiplex, nuclear, consanguineous families in Tamil Nadu, India. From the mean frequency of the ARNSHL genes in this population, the total number of disease genes is estimated to be 57.

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Year:  1998        PMID: 9527113     DOI: 10.1016/S0194-59989870311-0

Source DB:  PubMed          Journal:  Otolaryngol Head Neck Surg        ISSN: 0194-5998            Impact factor:   5.591


  2 in total

1.  Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

Authors:  J M Bork; L M Peters; S Riazuddin; S L Bernstein; Z M Ahmed; S L Ness; R Polomeno; A Ramesh; M Schloss; C R Srisailpathy; S Wayne; S Bellman; D Desmukh; Z Ahmed; S N Khan; V M Kaloustian; X C Li; A Lalwani; S Riazuddin; M Bitner-Glindzicz; W E Nance; X Z Liu; G Wistow; R J Smith; A J Griffith; E R Wilcox; T B Friedman; R J Morell
Journal:  Am J Hum Genet       Date:  2000-11-21       Impact factor: 11.025

2.  Refining the DFNB17 interval in consanguineous Indian families.

Authors:  Yingshi Guo; Valentina Pilipenko; Lynne H Y Lim; Hongwei Dou; Liane Johnson; C R Srikumari Srisailapathy; Arabandi Ramesh; Daniel I Choo; Richard J H Smith; John H Greinwald
Journal:  Mol Biol Rep       Date:  2004-06       Impact factor: 2.316

  2 in total

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