My paper on connexin deafness in Africans

It’s my second published paper; this time I am the first author! I’m not going to go into much detail on this because it’s not really of general interest and the paper itself is only a few pages long. In short, we examined two connexin genes, GJB6 and GJA1, to see whether there are changes in the gene sequences that may cause deafness in Africans. GJB6 is known to cause deafness, usually with GJB2, in Europeans and earlier research, later shown to be mistaken, had suggested GJA1 might play a role in deafness in Africans. We didn’t find any evidence that mutations in either gene cause deafness in patients from Cameroon or the Xhosa population of South Africa.

This is important because mutations in many genes cause deafness and it’s difficult to examine all the genes for mutations. There are a few methods that have been developed to examine the most likely genes or mutations but these are based on research that has been conducted mostly in Europeans and Asians. Currently, there have been almost no studies in Africa on the genetics of deafness (You could count them on your fingers, and the North African studies are on populations that are mostly Arab rather than black Africans.). Black Africans show high levels of genetic diversity and do not seem to have the same causes of genetic deafness as Europeans and Asians do. Without research done on Africans, the diagnostic tests will not actually be useful.

This paper is not open access but I am allowed to share a copy on my own website provided I give the following acknowledgement:
This is a copy of an article published in OMICS: A Journal of Integrative Biology © 2014 Mary Ann Liebert, Inc.; OMICS: A Journal of Integrative Biology is available online at: http://online.liebertpub.com.
In Search of Genetic Markers for Nonsyndromic Deafness in Africa A Study in Cameroonians and Black South Africans with the GJB6 and GJA1 Candidate Genes

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