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Genotype-Phenotype correlation of SMN locus genes in spinal muscular atrophy patients from India
Akanchha Kesari,M Mohammed Idris,Giri Raj Chandak,Balraj Mittal 생화학분자생물학회 2005 Experimental and molecular medicine Vol.37 No.3
Spinal muscular atrophy has been classified into four groups based on the age of onset and clinical severity of the disease. Homozygous deletion in SMN1 gene causes the disease but the clinical severity may be modified by copy number of homologous gene SMN2 as wel as the extent of deletion at SMN locus. In the view of scarcity of genotype and phenotype corela-tion data from India, this study has been under-taken to determine that corelation in SMA pa-SMN and NAIP genes and two polymorphic markers C212 and C272 located in this region. Two to four aleles of the markers C212 and C272 were observed in normal indivi-duals. However, majority of Type I patients show-ed only one alele from both markers whereas in Type II and II patients, 2-3 alleles were observed. The SMN2 copy number in our type II patients showed that patients cary 3-5 copies of SMN2 gene. Our results sugest that extent of deletions encompassing H4F5, SMN1, NAIP and copy num-ber of SMN2 gene can modify the SMA pheno-type, thus acounting for the diferent clinical subtypes of the disease.
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