1. A new locus for nonsyndromic deafnessDFNB49maps to chromosome 5q12.3-q14.1.
- Author
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Ramzan, Khushnooda, Shaikh, Rehan, Ahmad, Jamil, Khan, Shaheen, Riazuddin, Saima, Ahmed, Zubair, Friedman, Thomas, Wilcox, Edward, and Riazuddin, Sheikh
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DEAFNESS , *AUDIOLOGY , *EAR diseases , *CHROMOSOMES , *HUMAN genetics - Abstract
Cosegregation of markers on chromosome 5q12.3-q14.1 with profound congenital deafness in two Pakistani families (PKDF041 and PKDF141) defines a new recessive deafness locus,DFNB49. A maximum two-point lod score of 4.44 and 5.94 at recombination fraction ?=0 was obtained for markers D5S2055 and D5S424 in families PKDF041 and PKDF141, respectively. Haplotype analysis revealed an 11 cM linkage region flanked by markers D5S647 (74.07 cM) and D5S1501 (85.25 cM). Candidate deafness genes in this region includeSLC30A5,OCLN,GTF2H2, andBTF3, encoding solute carrier family 30 (zinc transporter) member 5, occludin, RNA polymerase II transcription initiation factor, and basic transcription factor 3, respectively. Sequence analysis of the coding exons ofSLC30A5in DNA samples from two affected individuals of families PKDF041 and PKDF141 revealed no mutation. The mapping ofDFNB49further confirms the heterogeneity underlying autosomal recessive forms of nonsyndromic deafness. [ABSTRACT FROM AUTHOR]
- Published
- 2005
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