This is a preview of subscription content, log in via an institution to check access.
References
Feldkötter M., Schwarzer V., Wirth R., Wienker T. and Wirth B. 2002 Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am. J. Hum. Genet. 70, 358–368.
Gerard B., Ginet N., Matthijs G., Evrard P., Baumann C., Da Silva F. et al. 2000 Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension. Hum. Mutat. 16, 253–263.
Lee T., Kim S., Lee K., Jin H., Koo S., Jo I. et al. 2004 Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR. J. Korean Med. Sci. 19, 870–873.
Lefebvre S., Burglen L., Reboullet S., Clermont O., Burlet P., Viollet L. et al. 1995 Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80, 155–165.
Martin Y., Valero A., del Castillo E., Pascual S. and Hernandez-Chico C. 2002 Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations. Hum. Genet. 110, 257–263.
McAndrew P., Parsons D., Simard L., Rochette C., Ray P. and Mendell J. 1997 Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am. J. Hum. Genet. 60, 1411–1422.
Miller S. A., Dykes D. D. and Polesky H. F. 1988 A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16, 1215.
Munsat T. and Davies K. 1992 Meeting report: International SMA consortium meeting. Neuromuscul. Disord. 2, 423–428.
Passon N., Pozzo F., Molinis C., Bregant E., Gellera C., Damante G. et al. 2009 A simple multiplex real-time PCR methodology for the SMN1 gene copy number quantification. Genet. Test. Mol. Biomarkers 13, 37–42.
Pearn J. 1980 Classification of spinal muscular atrophies. Lancet 1, 919–922.
Ruiz-Ponte C., Carracedo A. and Barros F. 2006 Duplication and deletion analysis by fluorescent real-time PCR-based genotyping. Clin. Chim. Acta 363, 138–146.
Scheffer H., Cobben J., Mensink R., Stulp R., Van der Steege G. and Buys C. 2000 SMA carrier testing–validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion. Eur. J. Hum. Genet. 8, 79–86.
Scheffer H., Cobben J., Matthijs G. and Wirth B. 2001 Best practice guidelines for molecular analysis in spinal muscular atrophy. Eur. J. Hum. Genet 9, 484–491.
Shadrina M. I., Semenova E. V., Slominsky P. A., Bagyeva G. H., Illarioshkin S. N., Ivanova S. II. et al. 2007 Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1–12 dosage. BMC Med. Genet. 8, 6.
Vaerman J., Saussoy P. and Ingargiola I. 2004 Evaluation of real-time PCR data. J. Biol. Regul. Homeost. Agents 18, 212–214.
Wirth B., Hahnen E., Morgan K., DiDonato C. J., Dadze A. and Rudnik-Schoneborn S. 1995 Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs. Hum. Mol. Genet. 4, 1273–1284.
Wirth B., Herz M., Wetter A., Moskau S., Hahnen E. and Rudnik-Schoneborn S. 1999 Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. Am. J. Hum. Genet. 64, 1340–1356.
Author information
Authors and Affiliations
Corresponding author
Additional information
[Akbari M. T., Noruzinia M., Mozdarani H. and Hamid M. 2011 Determination of exon 7 SMN1 deletion in Iranian patients and heterozygous carriers by quantitative real-time PCR. J. Genet. 90, 133–136]
Rights and permissions
About this article
Cite this article
AKBARI, M.T., NORUZINIA, M., MOZDARANI, H. et al. Determination of exon 7 SMN1 deletion in Iranian patients and heterozygous carriers by quantitative real-time PCR. J Genet 90, 133–136 (2011). https://doi.org/10.1007/s12041-011-0038-1
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12041-011-0038-1