Resumo

MENENDEZ, Ibis et al. Mutaciones del gen de la conexina 26 (GJB2) en familias cubanas con sorderas no sindrómicas autosómicas recesivas. Rev Cubana Invest Bioméd [online]. 2001, vol.20, n.3, pp.167-172. ISSN 0864-0300.

Mutations in the connexin 26 genes (locus DFNB1) in the long arm of the chromosome 13) account for 60% of the families with non-syndromic autosomal recessive deafness in Caucasian populations. The test for detection of 35delG mutation, the heteroduplex analysis and the connexin 26 gene coding region sequencing in members of 15 Cuban families with this type of hearing loss yielded the following results: in 10 of the 15 families (66,66%) mutations of both connexin 26 alleles were observed, so their deafness was classified as DFNB1-type. In this DFNB1-type families, 25 of the 32 analyzed chromosomes showed 35delG mutation for a frequency of 0.781. E47X and W77R mutations were observed in heterozygosis with the 35delG mutation. M34T/R143W and V95M/R184P punctual mutations were also detected in heterozygosis in two hypoacoustic patients respectively. The findings demonstrated the high frequency of DFNB1 deafness among the non-syndromic autosomal recessive deafness affecting the Cuban population. The most striking aspect of this research work is the similarity between these results and those found in Caucasian populations in relation with the ethnic origin of the Cuban population. This paper is the first communication of these studies in Cuba

Palavras-chave : DEAFNESS [congenital]; DEAFNESS [genetics]; CONNEXINS; MUTATION; HEREDITARY DISEASES [diagnosis]; CUBA; CHROMOSOMES; HUMAN, PAIR 13; ALLELES.

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