Open AccessMolecular diagnosis of spinal muscular atrophy in Egyptians
Author(s) -
RM Shawky,
Abd el-Aleem K,
Rifaat Mm,
A Moustafa
Publication year - 2001
Publication title -
eastern mediterranean health journal/eastern mediterranean health journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.442
H-Index - 47
eISSN - 1687-1634
pISSN - 1020-3397
DOI - 10.26719/2001.7.1-2.229
Subject(s) - spinal muscular atrophy , sma* , exon , heterozygote advantage , genetics , gene , mutation , chromosome , compound heterozygosity , medicine , biology , allele , mathematics , combinatorics
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.