Repository of Research and Investigative Information

Repository of Research and Investigative Information

Ilam University of Medical Sciences

Statistical study of 35delG mutation of GJB2 gene: A meta-analysis of carrier frequency

Thu Apr 18 22:48:24 2024

(2009) Statistical study of 35delG mutation of GJB2 gene: A meta-analysis of carrier frequency. International Journal of Audiology. pp. 363-370. ISSN 1499-2027

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GJB2 mutations are major causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) in many populations. However, a few mutations have an ethnic-specific background. We performed it review by means of a meta-analysis to evaluate the influence of the 35delG on ARNSHL. A PubMed, InterScience, British Library Direct, and Sciencedirect search using keywords '35delG', 'GJB2' and 'Connexin 26' associated with 'carrier frequency' was carried Out to include all papers front February 1998 to February 2008. 35delG carrier frequencies in 23187 random controls were analysed and categorized, corresponding with geographical boundaries, from all over the world. Mean carrier frequencies of 35delG mutation were found to be 1.89, 1.52, 0.64, 1, and 0.64 for European, American, Asian, Ocean, and African populations, respectively. We round that the average 35delG carrier frequency is highest in southern Europe and lowest in eastern Asia. The south-to-north European gradient in the carrier frequency of 35delG was confirmed and also a west-to-east Asian gradient is suggested. This study highlights the importance of establishing prevalence. based on the local population for screening and diagnostic programs of live births.

Item Type: Article
Keywords: GJB2 35delG Autosomal recessive nonsyndromic hearing loss Connexin 26 Carrier frequency connexin 26 gene nonsyndromic hearing-loss sensorineural deafness prelingual deafness recessive deafness childhood deafness high prevalence ashkenazi jews population dfnb1 Audiology & Speech-Language Pathology Otorhinolaryngology
Page Range: pp. 363-370
Journal or Publication Title: International Journal of Audiology
Journal Index: ISI
Volume: 48
Number: 6
Identification Number:
ISSN: 1499-2027
Depositing User: مهندس مهدی شریفی

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