Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1
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چکیده
منابع مشابه
Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP Gene
Hearing loss (HL) is the most common sensory defect. Various genetic as well as environmental factors have been shown to contribute in it. More than 100 loci have been recognized to cause autosomal recessive nonsyndromic hearing loss (ARNSHL). Here, we report a 6-year old female patient with bilateral pre-lingual HL in whom a mutation has been identified in TRIOBP gene (c.6362C>T, S2121L). In s...
متن کاملMapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12.
Hearing impairment (HI) is the most frequent sensory defect with wide genetic heterogeneity. Approximately 80% of genetic hearing loss is non-syndromic and 15-25% of exhibit autosomal dominant inheritance. We analysed an Italian three generation family in which non-syndromic hearing impairment is transmitted as an autosomal dominant trait. Onset of HI in all affected subjects occurred in the se...
متن کاملMapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3q
PURPOSE To identify the disease locus for autosomal recessive congenital cataracts in a consanguineous Pakistani family. METHODS All affected individuals underwent a detailed ophthalmologic examination. Blood samples were collected and genomic DNA was extracted. A genome-wide scan was completed with fluorescently-labeled microsatellite markers on genomic DNA from affected and unaffected famil...
متن کاملNovel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.
A novel locus DFNB90 was mapped to 7p22.1-p15.3 by carrying out a genome scan in a multigenerational consanguineous family from Pakistan with autosomal recessive nonsyndromic hearing impairment (ARNSHI).DFNB90 is the eighth ARNSHI locus mapped to chromosome 7. A multipoint LOD score of 4.0 was obtained at a number of SNP marker loci spanning from rs1468996 (chromosome 7: 5.7 Mb) tors957960 (chr...
متن کاملAn autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6.
Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common form of congenitally acquired inherited hearing impairment. Although numerous loci are believed to exist, only five have been identified. Using a pooled genomic DNA screening strategy, we have identified a sixth locus, DFNB6, on 3p in the interval bounded by D3S1619 and D3S1766.
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2003
ISSN: 1018-4813
DOI: 10.1038/sj.ejhg.5200934