Strip Assay Metodu Kullanılarak “Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)” Geni Mutasyonlarının Analizi,

Öz

Anahtar Kelimeler

• -

Strip Assay Metodu Kullanılarak “Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)” Geni Mutasyonlarının Analizi,

Öz

Amaç: Türk Populasyonu’ndaki CFTR gen mutasyonlarının bildirilmesi. Gereç ve yöntem: Çalışma da; 36 CFTR geni mutasyonunu tek bir çalışmada analiz eden Strip Assay Metodu ile, Kistik Fibrozis (KF)’li veya Konjenital olarak bilateral vas deferens aplazisi (CBAVD) bulunan toplam 254 örnek analiz edildi. Bulgular: Çalışılan 254 DNA örneğinde on farklı mutasyon saptandı. delF508 sıklığı %4, mutasyonlar açısından genel olarak bilgi vericilik oranı % 6,8 olarak bulundu. Sonuç: CFTR geni mutasyonlarının rutin saptanması açısından strip assay tekniği hızlı ve bilgi verici bulundu

Anahtar Kelimeler

• Kistik fibroz, CFTR, Strip assay

Kaynakça

1. National Center for Biotedınology Information (NCBI); On line Mendelian Inheritance in Man (OMIM); HYPERLINK http://www.ncbi.nlm.nih.gov/htbin-post/Omim/disp- mim219700.
2. Riordan JR, Rommens JM, Kerem B et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989; 245:1066.1072.
3. Rommens JM, Iannuzzi MC, Kerem B et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989; 245:1059-1065.
4. Cyctic f'ibrosis Mutation Database at HYPERLINK http://www.genet.sickkids.on.ca/cftr/
5. Yılmaz E, Erdem H, Özgüç et al. Study of 12 mutations in Turkish cystic fibrosis patients. Hum Hered.1995; 45: 175-177.
6. Onay T, Topaloglu O, Zielenski J et al. Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I). Hum Genet, 1998; 102: 224-230.
7. Lissens W, Liebaers I. The genetics of male infertility in re- lation to cystic fibrosis. Baillieres Clin Obstet Gynaecol, 1997; 11: 797-817.
8. Costes B, Girodon E, Ghanem N et al. Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congeni- tal bilateral absence of the vas deferens. EurJ Hum Genet, 1995; 3: 285-293.

9. Schulz S, Jakubiczka S, Kropf S, Nickel I, Muschke P, Kleinstein J. Increased frequency of cystic fibrosis transmembrane conductance regulator gene mutations in infertile males. Fertil Steril, 2006; 85: 135-138.
10. Başak AN. Moleküler Hematoloji ve Sitogenetik Alt Komi- tesi Temel moleküler hematoloji kursu. 2005; 99-106.
11. Miller SA, Dykens DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
12. Zielenski J, Tsui L-C. Cystic fibrosis: genotypic and phenotypic variations.Annu Rev Genet. 1994; 29:777- 807.
13. Messaoud T, Verlingue C, Denamur E et al. Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations. Eur J Hum Genet 1996;4: 20-24.
14. Köprübasi FF, Malik N, Bösch-al-Jadooa N, Alkan M, Tanac R, Bühler E. Molecular genetic analysis of Turkish cystic fibrosis patients. Ann Genet 1993;36:1449.
15. Ülgenalp A, Uzuner N, Giray Ö, Bora E, Erçal D. Türk Kistik Fibrozisli Hastalarda 14 Yaygın Mutasyonun Ta- ranması. İzmir Göğüs Hastalıkları ve Hastanesi Eğitim Hastanesi Dergisi, 2000;14:1-4.
16. Onay T, Zielenski J, Topaloglu O et al. Cystic fibrosis mutations as associated haplotypes in Turkish cystic fibrosis patients. Hum Biology 2001; 73:191-203.
17. Estivill X, Bancells C, Ramos C. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. Hum Mutat 1997; 10: 135-154.
18. Kilinç MO, Ninis VN, Dağli E et al. Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients. Am J Med Genet 2002; 113: 250-257.
19. Inal TC, Yuregir G, Ozer G, Yuksel G. Detection of F508 mutation in the Cukurova Region. Turk J Med Sci 2000; 30: 605-607.
20. Kosava B, Eroğlu Z, Yılmaz B ve ark. F508, I507 ve F508C kistik fibroz mutasyonlarının gerçek-zamanlı multipleks PCR ile hızlı analizleri. Ege Journal of Medicine, 2008; 47: 103 -109.
21. Chillon M, Casals T, Mercier B et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995; 332:1475-1480.
22. Dayangaç D, Erdem H, Yilmaz E et al. Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens. Hum Reprod 2004;19: 1094-1100.