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Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness

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Alexandrino F., Oliveira C. A., Reis F. C., Maciel-Guerra A. T., Sartorato E. I.

Journal of Applied Genetics

2004

vol. 45

issue 2

249-254

Deafness is a complex disorder that is affected by a high number of genes and environmental factors. Recently, enormous progress has been made in nonsyndromic deafness research, with the identification of 90 loci and 33 nuclear and 2 mitochondrial genes involved (http://dnalab-www.uia.ac.be/dnalab/hhh/). Mutations in the GJB3 gene, encoding the gap junction protein connexin 31 (Cx31), have been pathogenically linked to erythrokeratodermia variabilis and nonsyndromic autosomal recessive or dominant hereditary hearing impairment. To determine the contribution of the GJB3 gene to sporadic deafness, we analysed the GJB3 gene in 67 families with nonsyndromic hearing impairment. A single coding exon of the GJB3 gene was amplified from genomic DNA and then sequenced. Here we report on three amino acid changes: Y177D (c.529T > G), 49delK (c.1227C > T), and R32W (c.144-146delGAA). The latter substitution has been previously described, but its involvement in hearing impairment remains uncertain. We hypothesize that mutations in the GJB3 gene are an infrequent cause of nonsyndromic deafness.

IRAP and REMAP assessments of genetic similarity in rice

73%

Branco C. J. S., Vieira E. A., Malone G., Kopp M. M., Malone E., Bernardes A., Mistura C. C., Carvalho F. I. F., Oliveira C. A.

Journal of Applied Genetics

2007

vol. 48

issue 2

107-113

Rice is a model genome for cereal research, providing important information about genome structure and evolution. Retrotransposons are common components of grass genomes, showing activity at transcription, translation and integration levels. Their abundance and ability to transpose make them good potential markers. In this study, we used 2 multilocus PCR-based techniques that detect retrotransposon integration events in the genome: IRAP (inter-retrotransposon amplified polymorphism) and REMAP (retrotransposon-microsatellite amplified polymorphism). Markers derived from Tos17, a copia-like endogenous retrotransposon of rice, were used to identify genetic similarity among 51 rice cultivars (Oryza sativa L.). Genetic similarity analysis was performed by means of the Dice coefficient, and dendrograms were developed by using the average linkage distance method. A cophenetic correlation coefficient was also calculated. The clustering techniques revealed a good adjustment between matrices, with correlation coefficients of 0.74 and 0.80, or lower (0.21) but still significant, between IRAP and REMAP-based techniques. Consistent clusters were found for Japanese genotypes, while a subgroup clustered the irrigated Brazilian genotypes.

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2 Journal of Applied Genetics

1 2007

1 2004

2 Oliveira C. A.

1 Alexandrino F.

1 Bernardes A.

1 Branco C. J. S.

1 Carvalho F. I. F.

1 Kopp M. M.

1 Maciel-Guerra A. T.

1 Malone E.

1 Malone G.

1 Mistura C. C.

1 Reis F. C.

1 Sartorato E. I.

1 Vieira E. A.

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Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness

IRAP and REMAP assessments of genetic similarity in rice