| Title |
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1
|
|---|---|
| Published in |
Human Genetics, November 2004
|
| DOI | 10.1007/s00439-004-1205-8 |
| Pubmed ID | |
| Authors |
Khushnooda Ramzan, Rehan S. Shaikh, Jamil Ahmad, Shaheen N. Khan, Saima Riazuddin, Zubair M. Ahmed, Thomas B. Friedman, Edward R. Wilcox, Sheikh Riazuddin |
| 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 theta=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 include SLC30A5, OCLN, GTF2H2, and BTF3, 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 of SLC30A5 in DNA samples from two affected individuals of families PKDF041 and PKDF141 revealed no mutation. The mapping of DFNB49 further confirms the heterogeneity underlying autosomal recessive forms of nonsyndromic deafness. |
Mendeley readers
The data shown below were compiled from readership statistics for 17 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 17 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 5 | 29% |
| Student > Ph. D. Student | 4 | 24% |
| Other | 2 | 12% |
| Professor | 1 | 6% |
| Unspecified | 1 | 6% |
| Other | 1 | 6% |
| Unknown | 3 | 18% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 6 | 35% |
| Biochemistry, Genetics and Molecular Biology | 3 | 18% |
| Medicine and Dentistry | 2 | 12% |
| Unspecified | 1 | 6% |
| Neuroscience | 1 | 6% |
| Other | 1 | 6% |
| Unknown | 3 | 18% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 20 April 2020.
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#7,454,298
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Outputs from Human Genetics
#933
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#20,312
of 62,635 outputs
Outputs of similar age from Human Genetics
#2
of 13 outputs
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