Banca de QUALIFICAÇÃO: RIGOBERTO GADELHA CHAVES

Uma banca de QUALIFICAÇÃO de DOUTORADO foi cadastrada pelo programa.
DISCENTE: RIGOBERTO GADELHA CHAVES
DATA: 06/03/2015
HORA: 09:00
LOCAL: SALA DE AULA 01 - PPGCSA
TÍTULO:

Consanguinity and founder effect for Gaucher disease mutation G377S in a population from Tabuleiro do Norte, Northeastern Brazil


PALAVRAS-CHAVES:

Gaucher disease; G377SMutation; Consanguinity


PÁGINAS: 20
GRANDE ÁREA: Ciências da Saúde
ÁREA: Medicina
RESUMO:

Gaucher’s disease (GD) is caused by a β-glucocerebrosidase deficiency, leading to the accumulation of glucocerebroside in the reticuloendothelial system. The prevalence of GD in Tabuleiro do Norte (TN) (1:4000) is the highest in Brazil. The purpose of this study was to present evidence of consanguinity and founder effect for the G377S mutation (c.1246G>A) among GD patients in TN based on enzyme, molecular and genealogical studies. Between March 2009 and December 2010, 131 subjects at risk for GD (GC in dried blood ≤2.19 nmol/h/ml) and 5 confirmed GD patients from the same community were submitted for molecular analysis to characterize the genetic profile of the population. Based on the enzymatic and molecular analysis, the subjects were classified into three categories: affected (n=5), carrier (n=20) and non-carrier (n=111). All carriers were (G377S/wt). Affected subjects were homozygous (G377S/G377S). The identification of a single mutation in carriers and homozygotes from different generations, the history of the community and the genealogy study suggest that the high prevalence of GD in this population may be due to a combination of consanguinity and founder effect for the G377S mutation.


MEMBROS DA BANCA:
Externo ao Programa - 1375489 - ANA CLAUDIA GALVAO FREIRE GOUVEIA
Presidente - 6349161 - GERALDO BARROSO CAVALCANTI JUNIOR
Externo ao Programa - 346993 - MARIA ZELIA FERNANDES
Notícia cadastrada em: 03/03/2015 14:49
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