Refining the DFNB17 interval in consanguineous Indian families
| Autor: | Richard J.H. Smith, Daniel I. Choo, Arabandi Ramesh, C. R. Srikumari Srisailapathy, Valentina Pilipenko, John H. Greinwald, Lynne H.Y. Lim, Yingshi Guo, Liane B. Johnson, Hongwei Dou |
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| Rok vydání: | 2004 |
| Předmět: |
Genetics
Candidate gene Consanguineous family Hearing Loss Sensorineural Homozygote Chromosome Mapping India Locus (genetics) Single-nucleotide polymorphism General Medicine Biology Polymorphism Single Nucleotide Slc26a4 gene Pedigree Consanguinity Genetic marker RNA splicing otorhinolaryngologic diseases Humans Molecular Biology Gene Chromosomes Human Pair 7 |
| Zdroj: | Molecular Biology Reports. 31:97-105 |
| ISSN: | 0301-4851 |
| DOI: | 10.1023/b:mole.0000031385.64105.61 |
| Popis: | We previously mapped the DFNB17 locus to a 3-4 cM interval on human chromosome 7q31 in a large consanguineous Indian family with congenital profound sensorineural hearing loss. To further refine this interval, 30 new highly polymorphic markers and 8 SNPs were analyzed against the pedigree. Re-analysis in the original DFNB 17 family and additional data from a second unrelated consanguineous family with congenital deafness found to map to the interval, limited the area of shared homozygosity-by-descent (HBD) to approximately 4 megabase (Mb) between markers D7S2453 and D7S525. Nineteen known genes and over 20 other cDNAs have been identified in the refined DFNB 17 interval, including the SLC26A4 gene. We have analyzed 4 other cochlear-expressed genes that map to the DFNB17 interval as candidate genes. Analysis of coding and splice site regions of these cochlear expressed genes did not reveal any disease causing mutations. Further study of other candidate genes is currently underway. |
| Databáze: | OpenAIRE |
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