Molecular diagnosis of spinal muscular atrophy in Egyptians
(East. Mediterr. health j).
em En
| WHOLIS
| ID: who-119012
Biblioteca responsável:
CH1.1
ABSTRACT
This study was carried out with 33 spinal muscular atrophy [SMA] patients. DNA molecular studies of the SMA gene on the long arm of chromosome 5 [5q11.2q13.3] revealed homozygous deletion of exon 7 in 55% of cases, 36% of whom also had a homozygous delition of exon 8. The adult patients were heterozygous for an abnormal size exon 8. The remaining patients had either compound heterozygote deletion of exons 7 and 8 or were normal for both. There may therefore be 5q-unlinked SMA or SMA due to other mutations. Detection of deletions of SMA exons 7 and 8 is a powerful diagnostic test in patients with SMA, but other mutations among Egyptians must also be sought
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Texto completo:
1
Coleções:
04-international_org
Base de dados:
WHOLIS
Assunto principal:
Fenótipo
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Cromossomos Humanos Par 5
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Análise Mutacional de DNA
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Atrofia Muscular Espinal
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Estudos de Casos e Controles
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Deleção de Genes
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Idade de Início
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Progressão da Doença
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Heterozigoto
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Homozigoto
Idioma:
En
Revista:
East. Mediterr. health j
Ano de publicação:
2001