Genetic Mapping Refines DFNB3 to 17p11.2, Suggests Multiple Alleles of DFNB3, and Supports Homology to the Mouse Model shaker-2
| Autor: | John T. Hinnant, Anil K. Lalwani, I. Nyoman Arhya, Sukarti Moeljopawiro, Robert J. Morell, Sally A. Camper, Clelia Negrini, Dilip Deshmukh, Thomas D. Barber, Edward R. Wilcox, Xiaoyan C. Li, Aihui Wang, David F. Dolan, James R. Lupski, Frank J. Probst, Ken-Shiung Chen, Sunaryana Winata, Yong Liang, Thomas B. Friedman, Pawan K. Jain, Lynn E. Carter |
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| Jazyk: | angličtina |
| Předmět: |
Genetic Markers
Male Recessive deafness Locus (genetics) Deafness Biology Mice 03 medical and health sciences Gene mapping Genetics medicine Animals Humans Genetics(clinical) DFNB3 Nonsyndromic deafness Allele Alleles Genetics (clinical) 030304 developmental biology 0303 health sciences shaker-2 030305 genetics & heredity Haplotype Chromosome Mapping medicine.disease Pedigree Chromosome 17 (human) Haplotypes Genetic marker Microsatellite Female Congenital profound hearing loss Balinese village Research Article Chromosomes Human Pair 17 Chromosome 17p11.2 |
| Zdroj: | The American Journal of Human Genetics. (4):904-915 |
| ISSN: | 0002-9297 |
| DOI: | 10.1086/301786 |
| Popis: | The nonsyndromic congenital recessive deafness gene, DFNB3, first identified in Bengkala, Bali, was mapped to a approximately 12-cM interval on chromosome 17. New short tandem repeats (STRs) and additional DNA samples were used to identify recombinants that constrain the DFNB3 interval to less, similar6 cM on 17p11.2. Affected individuals from Bengkala and affected members of a family with hereditary deafness who were from Bila, a village neighboring Bengkala, were homozygous for the same alleles for six adjacent STRs in the DFNB3 region and were heterozygous for other distal markers, thus limiting DFNB3 to an approximately 3-cM interval. Nonsyndromic deafness segregating in two unrelated consanguineous Indian families, M21 and I-1924, were also linked to the DFNB3 region. Haplotype analysis indicates that the DFNB3 mutations in the three pedigrees most likely arose independently and suggests that DFNB3 makes a significant contribution to hereditary deafness worldwide. On the basis of conserved synteny, mouse deafness mutations shaker-2 (sh2) and sh2J are proposed as models of DFNB3. Genetic mapping has refined sh2 to a 0.6-cM interval of chromosome 11. Three homologous genes map within the sh2 and DFNB3 intervals, suggesting that sh2 is the homologue of DFNB3. |
| Databáze: | OpenAIRE |
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