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Spinal Muskuler Atrofili Olgularda Survival Motor Neuron Gen 1 (SMN1) Delesyon Sıklığı,

Year 2007, Volume: 21 Issue: 2, 71 - 74, 01.08.2007

E. Bora

Abstract

Keywords

-

References

  • 1. Talbot K. Progressive Spinal Muscular Atrophy. J Inher Metab Dis 1999;22: 545-554.
  • 2. McDonald CM. Neuromuscular diseases. In: Molnar GE; Alexander MA. eds. Pediatric Rehabilitation, Philadelphia, Hanley & Belfus, 1999:289-330.
  • 3. Strober JB, Tennekoon GI. Progressive muscular atrophies. J Child Neurol 1999;14: 691-695.
  • 4. Wirth B, Brichta L, Schrank B, et al. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet 2006; 119: 422-428.
  • 5. Zerres K, Rudnik-Schoneborn S, Forresy E, et al. A colloborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy: 569 patients. J Neurol Sci 1997; 146: 67-72.
  • 6. Erdem H, Pehlivan S, Topaloglu H, et al. Deletion analysis in Turkish patients with spinal muscular atrophy. Brain Dev 1999; 21:86-89.
  • 7. Dayangaç D, Erdem Yurter H. RNA “splicing” hataları sonucu ortaya çıkan kalıtsal hastalıklar. Hacettepe Tıp Dergisi 2005; 36:9-12
  • 8. Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of spinal muscular atrophy determining gene. Cell 1995;80: 155-165.
  • 9. Van der Steege G, Grootscholten PM, Van der Vlies P, et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995;345: 985-986.
  • 10. Covert DD, Le TT, McAndrew PE, et al. The survival motor neuron protein in spinal muscular atrophy. Hum Mol Gen 1997;6: 1205-1214.
  • 11. Liu Q, Dreyfuss GA. A novel nuclear structure containing the survival motor neuron protein. EMBO J 1996;15: 3555- 3565.
  • 12. Miller SA, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res 1988; 28: 1215.
  • 13. Van der Steege G, Grootscholten PM, Van der Vlies P, et al. PCR - based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995; 345: 985-986.
  • 14. Maniatis T, Fritsch EF, Sambrook F. Molecular Cloning a Laboratory Manuel, Cold Spring Harbor Laboratory; USA, 1983.
  • 15. Melki J, Sheth P, Abdelhak S, et al. Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12- q14. Lancet 1990; 336:271-273.
  • 16. Cartegni L, Krainer AR. Disruption of an SF2/ASFdependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet 2002;30:377-384.
  • 17. Christodoulou K, Kyriakides T, Hristova AH, et al. Mapping of distal form of spinal muscular atrophy with upper limb predomonance to chromosome 7p. Hum Mol Genet 1995; 4: 1629-1632.
  • 18. H.Erdem, S.Pehlivan, H.Topaloğlu, M.Özgüç. Deletion analysis in Turkish spinal muscular atrophy patients. Brain and Development 1999; 37: 167-170.
  • 19. Morrison KE. Advances in SMA research: Reviev of gene deletions. Neuromusc Disord 1996; 6: 397-408.
  • 20. Pehlivan S, Çankaya T, Özkınay F ve ark. Spinal musküler atrofi'de moleküler tanı: Ege bölgesinde bir referans merkezindeki uygulamalar. Ege Tıp Dergisi 2002;41: 7-10.
  • 21. Munsat TL. Workshop report international SMA collaboration. Neuromusc Disord 1991; 1: 81.
  • 22. Dubovvitz V. Chaos in classification of the spinal muscular atrophies in ohildhood. Neuromusc Disord 1991; 1: 77-78

Spinal Muskuler Atrofili Olgularda Survival Motor Neuron Gen 1 (SMN1) Delesyon Sıklığı

Year 2007, Volume: 21 Issue: 2, 71 - 74, 01.08.2007

E. Bora

Abstract

Amaç: Otozomal resesif bir nöromüsküler hastalık olan Spinal Muskuler Atrofi, proksimal
kaslarda ilerleyici tarzda güçsüzlük ve atrofi ile karakterizedir. Bu hastalık survival motor
neuron gen 1 (SMN1)’in homozigot kaybı sonucu meydana gelir. Bu çalışmada SMN1
geninde bulunan ekzon 7 ve 8’deki delesyonların sıklığı araştırılmıştır.
Gereç ve yöntem: Çalışmada SMA ön tanılı 42 olguda SMN1 geninde bulunan delesyonlar
moleküler genetik yöntemlerden Polimeraz Zincir Reaksiyonu - Restriksiyon
Fragmanların Uzunluk Polimorfizmleri kullanılarak analiz edilmiştir.
Bulgular: Olguların 28’ inde (%67) exon 7 ve 8’de delesyon saptanmıştır.
Sonuç: Çalışma grubunda ekzon 7 ve 8 için saptanan oran literatürdeki sonuçlardan daha
düşük bulunmuştur. Bu farklılığın oluşumunda tanı kriterlerinin rol oynayabileceği düşünülmektedir.

Keywords

Spinal muskuler atrofi survival motor neuron gen 1

References

  • 1. Talbot K. Progressive Spinal Muscular Atrophy. J Inher Metab Dis 1999;22: 545-554.
  • 2. McDonald CM. Neuromuscular diseases. In: Molnar GE; Alexander MA. eds. Pediatric Rehabilitation, Philadelphia, Hanley & Belfus, 1999:289-330.
  • 3. Strober JB, Tennekoon GI. Progressive muscular atrophies. J Child Neurol 1999;14: 691-695.
  • 4. Wirth B, Brichta L, Schrank B, et al. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet 2006; 119: 422-428.
  • 5. Zerres K, Rudnik-Schoneborn S, Forresy E, et al. A colloborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy: 569 patients. J Neurol Sci 1997; 146: 67-72.
  • 6. Erdem H, Pehlivan S, Topaloglu H, et al. Deletion analysis in Turkish patients with spinal muscular atrophy. Brain Dev 1999; 21:86-89.
  • 7. Dayangaç D, Erdem Yurter H. RNA “splicing” hataları sonucu ortaya çıkan kalıtsal hastalıklar. Hacettepe Tıp Dergisi 2005; 36:9-12
  • 8. Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of spinal muscular atrophy determining gene. Cell 1995;80: 155-165.
  • 9. Van der Steege G, Grootscholten PM, Van der Vlies P, et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995;345: 985-986.
  • 10. Covert DD, Le TT, McAndrew PE, et al. The survival motor neuron protein in spinal muscular atrophy. Hum Mol Gen 1997;6: 1205-1214.
  • 11. Liu Q, Dreyfuss GA. A novel nuclear structure containing the survival motor neuron protein. EMBO J 1996;15: 3555- 3565.
  • 12. Miller SA, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res 1988; 28: 1215.
  • 13. Van der Steege G, Grootscholten PM, Van der Vlies P, et al. PCR - based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995; 345: 985-986.
  • 14. Maniatis T, Fritsch EF, Sambrook F. Molecular Cloning a Laboratory Manuel, Cold Spring Harbor Laboratory; USA, 1983.
  • 15. Melki J, Sheth P, Abdelhak S, et al. Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12- q14. Lancet 1990; 336:271-273.
  • 16. Cartegni L, Krainer AR. Disruption of an SF2/ASFdependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet 2002;30:377-384.
  • 17. Christodoulou K, Kyriakides T, Hristova AH, et al. Mapping of distal form of spinal muscular atrophy with upper limb predomonance to chromosome 7p. Hum Mol Genet 1995; 4: 1629-1632.
  • 18. H.Erdem, S.Pehlivan, H.Topaloğlu, M.Özgüç. Deletion analysis in Turkish spinal muscular atrophy patients. Brain and Development 1999; 37: 167-170.
  • 19. Morrison KE. Advances in SMA research: Reviev of gene deletions. Neuromusc Disord 1996; 6: 397-408.
  • 20. Pehlivan S, Çankaya T, Özkınay F ve ark. Spinal musküler atrofi'de moleküler tanı: Ege bölgesinde bir referans merkezindeki uygulamalar. Ege Tıp Dergisi 2002;41: 7-10.
  • 21. Munsat TL. Workshop report international SMA collaboration. Neuromusc Disord 1991; 1: 81.
  • 22. Dubovvitz V. Chaos in classification of the spinal muscular atrophies in ohildhood. Neuromusc Disord 1991; 1: 77-78
There are 22 citations in total.

Details

Primary Language Turkish
Journal Section Articles
Authors

E. Bora This is me

Publication Date August 1, 2007
Submission Date August 11, 2015
Published in Issue Year 2007 Volume: 21 Issue: 2

Cite

Vancouver Bora E. Spinal Muskuler Atrofili Olgularda Survival Motor Neuron Gen 1 (SMN1) Delesyon Sıklığı. J DEU Med. 2007;21(2):71-4.