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Analysis of Deletions in SMN1, SMN2, and NAIPGenes in Spinal Muscular Atrophy Patients from the Northwestern Region of Russia

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Abstract

Polymerase chain reaction with subsequent SSCP (single-strand DNA conformational polymorphism) and restriction (BselI restriction endonuclease) analyses were used to type the DNA samples of affected individuals and their relatives from 23 Russian families with high risk of spinal muscular atrophy (SMA) residing in the northwestern region of Russia. Deletions of exon 7 of the SMN1gene were found in 96% of the individuals examined. The frequency of homozygous deletion of exons 7 and 8 of the SMN1gene was 65%. The frequency of homozygous isolated deletion of the SMN1gene exon 7 among the SMA patients was 4.3%. Homozygous deletion of exon 5 of the NAIPgene was found in 22% of SMA patients. In SMA patients, a total of seven deletion types involving the SMN1, NAIP, and SMN2genes were detected. Deletion of exons 7 and 8 of the SMN1gene was the most common mutation associated with SMA in patients from the northwestern Russia.

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REFERENCES

  1. Emery, A.E.H., The Nosology of the Spinal Muscular Atrophies, Med. Genet., 1971, vol. 8, pp. 481-495.

    Google Scholar 

  2. Biros, I. and Forrest, S., Spinal Muscular Atrophy: Untangling the Knot?, Med. Genet., 1999, vol. 36, pp. 1-8.

    Google Scholar 

  3. Roy, N., Mahadevan, M.S., McLean, M.D., et al., The Gene for Neuronal Apoptosis Inhibitory Protein Is Partially Deleted in Individuals with Spinal Muscular Atrophy, Cell (Cambridge, Mass.), 1995, vol. 80, pp. 167-178.

    Google Scholar 

  4. Lefebvre, S., Burglen, L., Reboullet, S., et al., Identification and Characterization of a Spinal Muscular Atrophy-Different allelic variants revealed in the SMA patients from the northwestern region of Russia Type of the allelic variant Determining Gene, Cell (Cambridge, Mass.), 1995, vol. 80, pp. 155-165.

    Google Scholar 

  5. Burglen, L., Lefebvre, S., Clermont, O., et al., Structure and Organization of the Human Survival Motor Neuron (SMN) Gene, Genomics, 1996, vol. 32, pp. 479-482.

    Google Scholar 

  6. Chen, Q., Baird, S.D., Mahadevan, M., et al., Sequence of a 131-kb Region of 5q13.1 Containing the Spinal Muscular Atrophy Candidate Genes SMN and NAIP, Genomics, 1998, vol. 48, pp. 121-127.

    Google Scholar 

  7. Velasco, E., Valero, C., Valero, A., et al., Molecular Analysis of the SMN and NAIP Genes in Spanish Spinal Muscular Atrophy (SMA) Families and Correlation between Number of Copies of cBCD541 and SMA Phenotype, Hum. Mol. Genet., 1996, vol. 5, pp. 257-263.

    Google Scholar 

  8. Rodrigues, N.R., Owen, N., Talbot, K., et al., Deletions in the Survival Motor Neuron Gene on 5q13 in Autosomal Recessive Spinal Muscular Atrophy, Hum. Mol. Genet., 1995, vol. 4, pp. 631-634.

    Google Scholar 

  9. Hahnen, E., Forkert, R., and Marke, C., Molecular Analysis of Candidate Genes on Chromosome 5q13 in Autosomal Recessive Spinal Muscular Atrophy: Evidence of Homozygous Deletions of the SMN Gene in Unaffected Individuals, Hum. Mol. Genet., 1995, vol. 4, pp. 1927-1933.

    Google Scholar 

  10. Somerville, M.J., Hunter, A.G., Aubry, H.L., et al., Clinical Application of the Molecular Diagnosis of Spinal Muscular Atrophy: Deletions of Neuronal Apoptosis Inhibitor Protein and Survival Motor Neuron Genes, Am. J. Med. Genet., 1997, vol. 69, pp. 159-165.

    Google Scholar 

  11. Zhivotovsky, L.A., Populyatsionnaya biometriya (Population Biometry), Moscow: Nauka, 1991.

    Google Scholar 

  12. Ekshiyan, A.Yu., Analysis of Mutations of the SMN and NAIP Genes in Families with High Risk of Spinal Muscular Atrophy, Cand. Sci. (Biol.) Dissertation, Kiev: Inst. Mol. Biol. Genet., 1999.

    Google Scholar 

  13. Jordanova, A., Stoyanova, V., Bochukova, E., et al., SMN and NAIP Deletion Analysis for Diagnostic of Spinal Muscular Atrophy in Bulgarian Families, Bal. J. Med.Genet., 1998, vol. 1, no. 1, pp. 13-17.

    Google Scholar 

  14. Samilchuk, E., D'Souza, B., Bastaki, L., and Awadi, Al., Deletion Analysis of the SMN and NAIP Genes in Kuwaiti Patients with Spinal Muscular Atrophy, Hum.Genet., 1996, vol. 98, pp. 524-527.

    Google Scholar 

  15. Stevens, G., Yawitch, T., Rodda, J., et al., Different Molecular Basis for Spinal Muscular Atrophy in South African Black Patients, Am. J. Med. Genet., 1999, vol. 86, pp. 420-426.

    Google Scholar 

  16. Yang, T., Yuan, L., Liu, T., et al., Detection of SMN Gene Deletions in Spinal Muscular Atrophy, Chung. Hua. I. Hsueh. I. Chuan. Hsueh. Tsa. Chin., 1998, vol. 15, pp. 95-97.

    Google Scholar 

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Authors and Affiliations

  1. Ott Institute of Obstetrics and Gynecology, Russian Academy of Medical Sciences, St. Petersburg, 199034 Russia

    A. S. Glotov, A. V. Kiselev, T. E. Ivaschenko & V. S. Baranov

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  1. A. S. Glotov
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  2. A. V. Kiselev
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  3. T. E. Ivaschenko
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  4. V. S. Baranov
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Glotov, A.S., Kiselev, A.V., Ivaschenko, T.E. et al. Analysis of Deletions in SMN1, SMN2, and NAIPGenes in Spinal Muscular Atrophy Patients from the Northwestern Region of Russia. Russian Journal of Genetics 37, 968–971 (2001). https://doi.org/10.1023/A:1016794120171

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