[Mapping of gene underlying autosomal dominant non-syndromic hearing loss(DFNA)]
| Autor: | Hong, Tao R, Yu Lm, Cao Jy, Yuan Hj, Jing Cheng, Sun Hj, Han Dy, Feng Gy, Lin He, Yang Sz, Pu Dai |
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| Rok vydání: | 2006 |
| Předmět: |
Adult
Male Adolescent Hearing loss Genetic Linkage Locus (genetics) Chromosome Disorders Biology Genetic linkage medicine Humans Child Hearing Loss Aged Genes Dominant Genetics Phenocopy Aged 80 and over Chromosomes Human Pair 14 Extracellular Matrix Proteins medicine.diagnostic_test Genome Human Haplotype Chromosome Mapping Proteins General Medicine Middle Aged medicine.disease Pedigree Haplotypes Microsatellite Sensorineural hearing loss Female medicine.symptom Audiometry Microsatellite Repeats |
| Zdroj: | Yi chuan = Hereditas. 28(12) |
| ISSN: | 0253-9772 |
| Popis: | Hereditary non-syndromic sensorineural hearing loss is a genetically highly heterogeneous group of disorders. To date, at least 50 loci for autosomal dominant non-syndromic sensorineural hearing loss (DFNA) have been identified by linkage analysis. Here we report a huge family with late onset autosomal dominant hereditary non-syndromic hearing loss. In this family, 73 of 170 family members have been conducted physical examination, pure-tone audiometry, immittance testing and auditory brainstem response testing (ABR). The results indicated that 39 of 73 tested family members have sensorineural hearing loss in various degrees. No associated visible abnormalities in other systems were found in this family. After exclusion of the 14 known DFNA loci with markers from the Hereditary Hearing Loss Homepage (URL: http://dnalab-www.uia.ac.be/dnalab/hhh), a genome wide scan was carried out using 382 highly informative microsatellite markers at approximately 9.2 cM intervals throughout the genome. Linkage analysis was carried out under a fully penetrant autosomal dominant mode of inheritance with no phenocopies. A maximum two-point LOD score of 6.69 at theta=0 was obtained for marker D14S1040. Haplotype analysis placed the locus within a 7.6 cM genetic interval defined by marker D14S1021 and D14S70, overlapping with the DFNA9 locus. |
| Databáze: | OpenAIRE |
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