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Obesity and variants of the GHRL (ghrelin) and BCHE (butyrylcholinesterase) genes Genet. Mol. Biol.
Dantas,Vitor G.L.; Furtado-Alle,Lupe; Souza,Ricardo L.R.; Chautard-Freire-Maia,Eleidi A..
Ghrelin coded by the GHRL gene is related to weight-gain, its deactivation possibly depending on its hydrolyzation by butyrylcholinesterase (BChE) encoded by the BCHE gene, an enzyme already associated with the body mass index (BMI). The aim was to search for relationships between SNPs of the GHRL and BCHE genes with BChE activity, BMI and obesity in 144 obese and 153 nonobese Euro-Brazilian male blood donors. In the obese individuals, a significant association with higher BChE activity, in the 72LM+72MM; -116GG genotype class (GHRL and BCHE genes, respectively) was noted. No significant differences were found otherwise, through comparisons between obese and control individuals, of genotype and allele frequencies in SNPs of the GHRL gene (Arg51Gln and...
Tipo: Info:eu-repo/semantics/article Palavras-chave: BCHE gene; Body-mass index; Butyrylcholinesterase; Ghrelin; GHRL gene; Obesity.
Ano: 2011 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000200006
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c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family Genet. Mol. Biol.
Dantas,Vitor G.L.; Lezirovitz,Karina; Yamamoto,Guilherme L.; Souza,Carolina Fischinger Moura de; Ferreira,Simone Gomes; Mingroni-Netto,Regina C..
We studied a family presenting 10 individuals affected by autosomal dominant deafness in all frequencies and three individuals affected by high frequency hearing loss. Genomic scanning using the 50k Affymetrix microarray technology yielded a Lod Score of 2.1 in chromosome 14 and a Lod Score of 1.9 in chromosome 22. Mapping refinement using microsatellites placed the chromosome 14 candidate region between markers D14S288 and D14S276 (8.85 cM) and the chromosome 22 near marker D22S283. Exome sequencing identified two candidate variants to explain hearing loss in chromosome 14 [PTGDR - c.G894A:p.R298R and PTGER2 - c.T247G:p.C83G], and one in chromosome 22 [MYH9, c.G2114A:p.R705H]. Pedigree segregation analysis allowed exclusion of the PTGDR and PTGER2...
Tipo: Info:eu-repo/semantics/article Palavras-chave: DFNA17; MYH9 gene; Hearing loss.
Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000500002
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