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

Yıl 2007, Cilt: 21 Sayı: 2, 71 - 74, 01.08.2007

E. Bora

Öz

Anahtar Kelimeler

-

Kaynakça

  • 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

Yıl 2007, Cilt: 21 Sayı: 2, 71 - 74, 01.08.2007

E. Bora

Öz

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.

Anahtar Kelimeler

Spinal muskuler atrofi survival motor neuron gen 1

Kaynakça

  • 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
Toplam 22 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Makaleler
Yazarlar

E. Bora Bu kişi benim

Yayımlanma Tarihi 1 Ağustos 2007
Gönderilme Tarihi 11 Ağustos 2015
Yayımlandığı Sayı Yıl 2007 Cilt: 21 Sayı: 2

Kaynak Göster

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