Affiliations 

  • 1 Universiti Sains Malaysia
MyJurnal

Abstract

Spinal Muscular Atrophy (SMA) is a heredity neuromuscular disorder and is one of the most common genetic causes of childhood fatality. SMA is classified into three groups based on age of onset and achieved motor milestone. Survival Motor Neuron (SMN) gene has been identified as the responsible gene for SMA. From August 2003 until Feb 2007 we have received 93 samples for SMN1 gene deletion analysis from various hospitals in Malaysia. All the patients except for 3 patients were Malaysian (71 Malays, 5 Indians, 9 Chinese and 5 patients are mixed ethnicity). DNA were extracted from blood samples using DNA extraction kit and subjected to SMN/ gene deletion analysis by PCR-RE. Forty nine out of 93 samples (20 type I, 21 type II, and 8 type III) were found to have homozygous deletion of at least exon 7 of the SMN1 gene. Twelve patients (7 type I, 4 type II, 1 type III) showed the presence of the SMN1 gene and the rest were excluded as they did not fulfill the criteria of International SMA Consortium. Deletion analysis of exon 7 of the SMN gene can be an alternative to the existing diagnostic modalities of SMA.