Linkage Analysis of Autosomal Recessive Non-syndromic Mental Retardation Locus in Pakistani Families
نویسندگان
چکیده
منابع مشابه
Genetics of non-syndromic autosomal recessive mental retardation.
Non-syndromic mental retardation is one of the most serious neurodevelopmental disorders, which has a serious impact not only on the affected individuals and their families but also on the health care system and society. Previously research has been more focused on the X-linked mental retardation and only recently studies have shown that non-syndromic autosomal recessive mental retardation is e...
متن کاملMutation Analysis of GJB2 and GJB6 Genes and the Genetic Linkage Analysis of Five Common DFNB Loci in the Iranian Families with Autosomal Recessive Non-Syndromic Hearing Loss
The incidence of pre-lingual hearing loss (HL) is about 1 in 1000 neonates. More than 60% of cases are inherited. Non-syndromic HL (NSHL) is extremely heterogeneous: more than 130 loci have been identified so far. The most common form of NSHL is the autosomal recessive form (ARNSHL). In this study, a cohort of 36 big ARNSHL pedigrees with 4 or more patients from 7 provinces of Iran was investig...
متن کاملInvestigating Seven Recently Identified Genes in 100 Iranian Families with Autosomal Recessive Non-syndromic Hearing Loss
Objectives: Hearing loss (HL) is the most common sensory disorder, and affects 1 in 1000 newborns. About 50% of HL is due to genetics and 70% of them are non-syndromic with a recessive pattern of inheritance. Up to now, more than 50 genes have been detected which are responsible for autosomal recessive non-syndromic hearing loss, (ARNSHL). In Iran, HL is one of the most common disabilitie...
متن کاملGenetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families
The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL) in Pakistan is 1.6/1000 individuals. More than 50% of the families carry mutations in GJB2 while mutations in MYO15A account for about 5% of recessive deafness. In the present study a cohort of 30 ARNSHL families was initially screened for mutations in GJB2 and MYO15A. Homozygosity mapping was performed...
متن کاملGenetic Linkage Analysis of DFNB3, DFNB9 and DFNB21 Loci in GJB2 Negative Families with Autosomal Recessive Non-syndromic Hearing Loss
BACKGROUND Autosomal recessive non-syndromic hearing loss (ARNSHL) is the most common hereditary form of deafness, and exhibits a great deal of genetic heterogeneity. So far, more than seventy various DFNB loci have been mapped for ARNSHL by linkage analysis. The contribution of three common DFNB loci including DFNB3, DFNB9, DFNB21 and gap junction beta-2 (GJB2) gene mutations in ARNSHL was inv...
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ژورنال
عنوان ژورنال: INTERNATIONAL JOURNAL OF HUMAN GENETICS
سال: 2019
ISSN: 0972-3757,2456-6330
DOI: 10.31901/24566330.2019/19.03.731