Molecular diagnosis of spinal muscular atrophy in Egyptians
(East. Mediterr. health j).
in English
| WHO IRIS
| ID: who-119012
Responsible library:
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
Full text:
Available
Collection:
Databases of international organizations
Database:
WHO IRIS
Main subject:
Phenotype
/
Chromosomes, Human, Pair 5
/
DNA Mutational Analysis
/
Muscular Atrophy, Spinal
/
Case-Control Studies
/
Gene Deletion
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Age of Onset
/
Disease Progression
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Heterozygote
/
Homozygote
Language:
English
Journal:
East. Mediterr. health j
Year:
2001