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1.
EMHJ-Eastern Mediterranean Health Journal. 2011; 17 (6): 536-545
em Inglês | IMEMR | ID: emr-159078

RESUMO

The aim of this study was to determine the attitude of Saudi Arabians to research involving storage and use of human tissues from which genetic information may be derived and to assess their willingness to donate tissue samples to biobanks. In a cross-sectional interview study of 1051 outpatients at a hospital in Riyadh city, 68.8% had a positive attitude towards biomedical research and 78.4% were willing to allow use of excess surgical tissues for research purposes. Participants were less willing to allow the use of tissue or organs from a deceased relative. Logistic regression analysis found that predictors for a positive attitude to biomedical research and to use of tissue in research were: female sex, higher level of education, previous experience of blood testing and previous participation in health-related research. The attitudes towards biomedical research among the participants were satisfactory and comparable to findings from other countries


Assuntos
Humanos , Masculino , Feminino , Atitude , Opinião Pública , Ambulatório Hospitalar , Estudos Transversais , Inquéritos e Questionários
2.
EMHJ-Eastern Mediterranean Health Journal. 1999; 5 (6): 1225-1229
em Inglês | IMEMR | ID: emr-156722

RESUMO

We examined the deletion of the survival motor neuron [SMN] and neuronal apoptosis inhibitory protein [NAIP] genes in patients with spinal muscular atrophy [SMA] using polymerase chain reaction followed by restriction site assay methods. The study included 16 Saudi patients [9 SMA type I and 7 SMA type II] and 6 healthy Saudi volunteers. The homozygous deletions of exons 7 and 8 of the telomeric SMN gene, and exon 5 of the NAIP gene were found in all SMA type I patients. Exons 7 and 8 of telomeric SMN were deleted in all SMA type II patients. However, exon 5 of NAIP was deleted in three of the seven cases. All control volunteers and all family members of the patients had normal SMN and NAIP. The incidence of NAIP deletion was higher in the more severe SMA cases and the dual deletion of the SMN and NAIP genes was more common in Saudi SMA type I patients compared with patients of other ethnic groups


Assuntos
Humanos , Proteína de Ligação ao Elemento de Resposta ao AMP Cíclico , Deleção de Genes , Homozigoto , Atrofia Muscular Espinal/classificação , Mutação/genética , Proteínas do Tecido Nervoso/genética , Reação em Cadeia da Polimerase/métodos , Mapeamento por Restrição/métodos , Índice de Gravidade de Doença
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