Genetic aspects of hearing loss in the Limpopo Province of South Africa.

Genetic aspects of hearing loss in the Limpopo Province of South Africa.

The aetiological diagnosis of recessive non-syndromic hearing loss poses a challenge owing to marked heterogeneity and the lack of identifying clinical features. The finding that up to 50% of recessive non-syndromal genetic hearing loss among Caucasians was due to mutations in GJB2, the gene enco...

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Bibliographic Details
Main Author: Kabahuma, Rosemary I.
Format: Others
Language:en
Published: 2010
Subjects:
Recessive
Non-syndromic hearing loss
Connexin 26 (Cx26)
Sub-Saharan Africa
GJB2
GJB6-D13S1830 deletion
Waardenburg Syndrome (WS) type 1
Mitochondrial mutations
Limpopo Province of South Africa.
High-risk area for deafness
Single strand conformation polymorphism (SSCP) assay
Direct sequencing for GJB2
Restriction Gragment-Length Polymorphism (PCR-RFLP) analysis
Hetero-duplex analysis
Childhood hearing loss
Universal Neonatal Hearing Screening
Early detection of hearing impairement
Online Access:http://hdl.handle.net/10539/8566

Internet

http://hdl.handle.net/10539/8566

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