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Frequencey of mutations in the GJB2 and 12S rRNA genes in egyptian patients with hereditary hearing loss
Other Title(s)
معدل حدوث الطفرات في جيني GJB2, 12S rRNA في المرضى المصريين ذو ضعف السمع الوراثي
Joint Authors
Bakr, Muhammad Salamah
Muhammad, Mustafa Rifat
Pfister, Markus
Muhammad, Muhammad Abd Allah
Muhammad, Raja Hamdi
Source
Issue
Vol. 29, Issue 3 (30 Sep. 2005), pp.185-196, 12 p.
Publisher
Assiut University Faculty of Medicine
Publication Date
2005-09-30
Country of Publication
Egypt
No. of Pages
12
Main Subjects
Topics
Abstract EN
The aim of this study was to determine the prevalence of GJB2 and 12S rRNA mutations in Egyptian families with hereditary hearing loss.
Twenty three families showing hereditary, hearing loss analyzed.
Seventeen of these families showed non-syndromic sensor neural hearing loss while the rest 4 families were showing syndromic form of hearing loss.
All subjects were examined by clinical evaluation and genetic analysis of their samples, including PCR, restriction assays, sequencing and SSCP.
The 35delG was found in 23.53% (4/17) of the families or in 24 of 142 (16.9%) investigated alleles.
Four patients were heterozygous carriers and 10 patients were homozygous for the 35delG mutations.
No other mutations of GJB2 have been reported.
No A1555G mutation have been detected in the study group.
These results emphasize the importance of genetic diagnosis and genetic counseling of deafpatients in Egypt
American Psychological Association (APA)
Bakr, Muhammad Salamah& Muhammad, Mustafa Rifat& Pfister, Markus& Muhammad, Muhammad Abd Allah& Muhammad, Raja Hamdi. 2005. Frequencey of mutations in the GJB2 and 12S rRNA genes in egyptian patients with hereditary hearing loss. Assiut Medical Journal،Vol. 29, no. 3, pp.185-196.
https://search.emarefa.net/detail/BIM-51151
Modern Language Association (MLA)
Bakr, Muhammad Salamah…[et al.]. Frequencey of mutations in the GJB2 and 12S rRNA genes in egyptian patients with hereditary hearing loss. Assiut Medical Journal Vol. 29, no. 3 (Sep. 2005), pp.185-196.
https://search.emarefa.net/detail/BIM-51151
American Medical Association (AMA)
Bakr, Muhammad Salamah& Muhammad, Mustafa Rifat& Pfister, Markus& Muhammad, Muhammad Abd Allah& Muhammad, Raja Hamdi. Frequencey of mutations in the GJB2 and 12S rRNA genes in egyptian patients with hereditary hearing loss. Assiut Medical Journal. 2005. Vol. 29, no. 3, pp.185-196.
https://search.emarefa.net/detail/BIM-51151
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 194-196
Record ID
BIM-51151