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Пульмонология

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Корреляция генотипа с фенотипом у больных муковисцидозом

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Об авторах

L. Romano
Cystic Fibrosis Centre – Gaslini Institute
Италия

Genoa



N. Kapranov
Научно-клинический отдел муковисцидоза МГНЦ РАМН
Россия

Москва



N. Kashirskaya
Научно-клинический отдел муковисцидоза МГНЦ РАМН
Россия

Москва



O. Zegarra-Moran
Molecular Genetics Laboratory – Gaslini Institute
Италия

Genoa



L.J.V. Galietta
Molecular Genetics Laboratory – Gaslini Institute
Италия

Genoa



Список литературы

1. Welsh M.J., Tsui L.-C., Boat T.F., Beaudet A.L. Cystic fibrosis. In: Scriver C.L. et ai., eds. The Metabolic basis of inherited disease. 7th ed. New York: McGraw-Hill; 1995. 3799—3876.

2. Rommens J.M., Iannuz zi M.C., Kerem B. et al. Identification of the cystic fibrosis gene: Chromosome walking and jumping. Science 1989; 245: 1059—1065.

3. Riordan J.R., Rommens J.M., Kerem B. et al. Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA. Ibid. 1066—1072.

4. Kerem B., Rommens J.M., Buchanan J.A. Identification of the cystic fibrosis gene: Genetic analysis. Ibid. 245: 1073—1080.

5. Gaskin K.J., Gurwitz D., Durie P. et al. Improved respiratory prognosis in patients with cystic fibrosis with normal fat absorption. J. Pediatr. 1982; 100: 857—862.

6. Gaskin K.J., Durie P.R., Lee L. et al. Colipase and lipase secretion in childhood-onset pancreatic insufficiency: delineation of patients with steatorrhea secondary to relative colipase deficiency. Gastroenterology 1984; 86: 1—7.

7. Corey М., Gaskin K.J., Durie P. et al. Improved prognosis in patients with normall fat absorption. J. Pediatr. Gastroenterol. 3. 1984; (su p l.l): S 99—S105.

8. Anguiano A., Oates R.D., Amos J.A. et al. Congenital bilateral absence of the vas deferens: a primary genital form of cystic fibrosis. J.A.M.A. 1992; 267: 1794—1797.

9. Osborne L.R., Lynch М., Middleton P.G. et al. Nasal epithelial ion tran sp o rt an genetic analysis in infertile men with congenital absence of the vas deferens. Hum. Mol. Genet. 1993; 2: 1605—1609.

10. Oates R.D., Amos J.A. The genetic basis of congenital absence of the vas deferens and cystic fibrosis. J. Androl. 1994; 15: 1—8.

11. Chillon М., Casals Т., Mercier B. et al. Muta tio n s in the cystic fibrosis gene in pa tien ts with congenital absence of the vas deferens. N. Engl. J. Med. 1995; 332: 1475—1480.

12. Mercier B., Verlingue C., Lissens W. et al. Is congenital bilateral absence of the vas deferens a primary form of cystic fibrosis? Analyses of the Cftr gene in 67 patients . Am. J. Hum. Genet. 1995; 56: 272—277.

13. Cystic Fibros is Genetic Analys is Consortium. http://www.genet.sickkids.on.ca/cftr.

14. Corey M ., Durie P., Moore D. et al. Familial concordance of pancreatic status in cystic fibrosis. J. Pediatr. 1989; 115: 274—277.

15. Keretn B., Buchanan J.A., Durie P. et al. DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis. Am. J. Gum. Genet. 1989; 44: 827—834.

16. Ferrari М., Antonelli М., Bellini F. et al. Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency. Hum. Genet. 1990; 84: 435—438.

17. Kerem E., Corey M., Keretn B. et al. The relationship between genotype and phenotype in cystic fibrosis: analysis of the most common mutation (DF508). N. Engl. J. Med. 1990;323: 1517—1522.

18. The Cystic Fibrosis Genotype-Phenotype Consortium. Correlation between genotype and phenotype in patients with cystic fibrosis. Ibid. 1993; 329: 1308—1313.

19. Chiba-Falek O., Parad R.B., Kerem E., Kerem B. Variable levels of normal RNA in different fetal organs c arrying a cystic fibrosis transmembrane conductance regulator splicing mutation. Am. J. Respir. Crit. Care Med. 1999; 159: 1998—2002.

20. Chiba-Falek O., Kerem E., Shoshani T. et al. The molecular basis of disease variability among cystic fibrosis pa tien ts carrying the 3849+10 kb C—>T mutation. Genomics 1998; 53: 276—283.

21. Veeze H.J., Hailey D.J., Bijman J. et al. Determinants of mild clinical symptoms in cystic fibrosis patients. Residual chloride secretion measured.in rectal biopsies in relation to the genotype. J. Clin. Invest. 1994; 93: 46 1—466.

22. Ho L.P., Samways J.M., Porteous D.J. et al. Correlation between nasal potential difference m easurements, genotype and clinical condition in pa tien ts with cystic fibrosis. Eur. Respir. J. 1997; 10: 2018—2022.

23. Zielenski J., Corey M., Rozmahel R. et al. Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q 13. Nat. Genet. 1999; 22: 128—129.


Рецензия

Для цитирования:


Romano L., Kapranov N., Kashirskaya N., Zegarra-Moran O., Galietta L. Корреляция генотипа с фенотипом у больных муковисцидозом. Пульмонология. 2001;(3):115-120.

For citation:


Romano L., Kapranov N., Kashirskaya N., Zegarra-Moran O., Galietta L. Genotype-phenotype correlation in cystic fibrosis patients. PULMONOLOGIYA. 2001;(3):115-120. (In Russ.)

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