Non-syndromic Autosomal Recessive Deafness in Pakistani Population: Epidemiology and Genetics

被引：0
作者：
Riaz, Ayesha [1 ]
Iqbal, Muhammad [1 ]
机构：
[1] Minist Sci & Technol, Ctr Appl Mol Biol, Lahore 54000, Pakistan
来源：
PAKISTAN JOURNAL OF ZOOLOGY | 2012年 / 44卷 / 05期
关键词：
Auditory sensing; cochlea; nonsyndromic; deafness; autosomal recessive; hearing impairment; HEARING IMPAIRMENT LOCUS; CONSANGUINEOUS MARRIAGES; HEREDITARY DEAFNESS; DIGENIC INHERITANCE; PENDRED-SYNDROME; LOSS MAPS; MUTATIONS; FORM; LOCALIZATION; PREVALENCE;
D O I：
暂无
中图分类号：
Q95 [动物学];
学科分类号：
071002 ;
摘要：
Hearing loss is quite common in Pakistani population leading to communication disabilities. Hearing loss is influenced by environmental and genetic factors. High ratio of cousin marriages, infection, trauma and various diseases are major contributors to hearing impairment among Pakistani individuals. Pakistani population provides a valuable genetic resource for identifying various loci and genes involved in deafness phenotypes. A number of genes causing pre-lingual, severe to profound or profound hearing impairment have been identified using single consanguineous family. The identification and functional analysis of deafness loci/genes play an important role in our understanding of processes of the auditory function.
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页码：1431 / 1438
页数：8
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