Genetic Basis of Y-Linked Hearing Impairment
نویسندگان
چکیده
منابع مشابه
Y-linked inheritance of non-syndromic hearing impairment in a large Chinese family.
H earing impairment is a common condition responsible for communication disorders affecting one in 1000 newborns. 2 A national poll by the China Association of the Handicapped in 1987 showed that 20.57 million people in the country were affected by auditory or speech disorders, accounting for 34% of the 60 million disabled or 1.58% of the total Chinese population (1.3 billion) (www.cdpf.org.cn)...
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120 cases of Iranian soldiers complaining of hearing loss, were studied over a period of three years at the Ghaem Medical Center in Mashad,Iran. There was adequate information in III cases that their engagement in different types of explosions had caused their hearing impairment. The following aspects were evaluated: 1- Categorization of their hearing impairment. 2- The otoscopic findings...
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Objective: The aim of this study is to establish a method by single nucleotide polymorphism detection from a single cell using the whole genomic amplification and restriction fragment length polymorphism-PCR (RFLPPCR). Methods: Genomic DNA was first prepared and wholly amplified from 80 biopsied blastomeres using the Sure Plex DNA Amplification System. Then, PCR was carried out on a single blas...
متن کاملDFNA5: hearing impairment exon instead of hearing impairment gene?
BACKGROUND Three mutations in the DFNA5 gene have been described in three families with autosomal dominant non-syndromic hearing impairment. Although these mutations are different at the genomic DNA level, they all lead to skipping of exon 8 at the mRNA level. We hypothesise that hearing impairment associated with DFNA5 is caused by a highly unusual mechanism, in which skipping of one specific ...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2013
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2012.12.015