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1992 | 39 | 3 |

Tytuł artykułu

The frequency of mutations in Exon 11 of the CF gene in Polish cystic fibrosis patients

Warianty tytułu

Języki publikacji

EN

Abstrakty

EN
Results of mutation analysis in exon II of the CF gene have been presented. Using the SSCI' technique 18 mutations (of four different types) were detected in cystic fibrosis patients of Polish origin. Thus, we were able to detect in exon 11 about 10% of all CF mutations occuring in the affected population examined.

Słowa kluczowe

Wydawca

-

Rocznik

Tom

39

Numer

3

Opis fizyczny

p.245-249

Twórcy

autor
  • National Research Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
autor
autor

Bibliografia

  • 1. Ronunens, J. M, Iannuz/.i, M. G, Kerciu, B., Druinni, M. I... Meliner, G.. Dean, M., Rozmaliel, R., Cole, J. L, Kennedy, D., Mulaka, N ,'Zsiga, M . Buchwald. M., Rioran, J. R.'lsui. LC. & Collins. F. S. (1989) Identification of the cystic fibrosis gone: chromosome walking and jumping. Science. 245. 1059 - 1065.
  • 2. Riordan. J. R.. Ronunens, J. M. Kercni. B., Alon. N., Rozinaliel, R., Grzelczak,'/.., Zieliński, I.., I.ok. S., Plavsic, N„ Clu>u, J.-!.., Dniinm, M l... lannuzzi, M C, Collins, F. S. & Tsui, L.-C. (1989) Identification of tin; cystic fibrosis gene: cloning and charac­terization of complementary DNA. Science, 245, 1066 - 1073.
  • 3. Kerem, R., Rommenes, J M., Ruelianan. J. A., Markiewicz, D., Cox, 'l'. K., Chakravan, A , Buchwald. M & Tsui. L.-C. (1989) Identification of the cystic fibrosis gene: geneue analysis. Science. 245. 1073 - 1080
  • 4. Zieliński. J.. Rozmahcl, R.. ttozon. D.. Kcrem. B.. Grzelczak, Z.. Riordan, J. R.. Rommens, J. & Tsui, L.-C. (1991) Genomic DNA sequence of the cystic fibrosis trans­membrane conductance regulator (CFT"R) gene. Genomics, 10, 214 - 228.
  • 5. Anderson. M. P., Ihompson, S., Souza, D. W., Paul. S.. Mulligan. R. C, Smith. A. li. & Welsh. M. J. (1991) Demonstration that CFI'R is a chloride channel by alteration of its anion selectivity. Science. 253. 202 - 205.
  • 6. Rich, D. P., Gregory, R. J.. Anderson. M. P.. Manavalon. P.. Smith. A. E. & Welsh. M. J. (1991) Effect of deleting the R domain on CFIR-gcncrated chloride channels. Science. 253, 205 - 207.
  • 7. European Working Group onCF Genetics (1990) Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. Hum. Genet., 85, 436 - 445.
  • 8. Cutting, G. R., Kasch, L. M., Roscnstein, B. J., Zieliński, J., Tsui. L.-C., Antonarakis, S. E. & Kazazian, H. H., Jr. (1990) A cluster of cystic fibrosis mutations in the first nucleotidc-binding fold of the cystic fibrosis conductance regulator protein. Nature (London), 346. 366 - 369.
  • 9. Estivill, X., Scamblcr, P. J.. Wainwright, B. J., Hawley, K. M., Frederick. P. A.. Schw;irtz, M„ Baigel, M., Kere, J., Williamson, R. & Farall, M. (1987) Patterns of polymorphism and linkage disequilibrium of cystic fibrosis. Genomics, 1, 257 - 263.
  • 10. Plieth. J., Rininsland, F, Schbsser, M , Cooper, D N. & Reiss J. (1992) Single strand conformation polymorphism (SSCP) analysis of exon 11 of the CFI'R gene reliably detects more than one third of non AF508 mutation in German cystic fibrosis patients. Hum Genet.. 88, 283 - 287.
  • 11. Wagner, M., Schloesser, M. & Reiss, J. (1990) Direct gene diagnosis of cyslic fibrosis by allele-specifie polymerase clian reactions. Moi. Biol. Med., 7, 359 - 364.
  • 12. Bal, J., Rininsland, F., Osborne, L. & Reiss, J. (1992) Simple non-radioactive detection of the CFTR mutation N1303K by artificial creation of a restriction site. Mol. Cell Probes, 6,9-11.
  • 13. Nuncs, V., Gasparini, P., Novelli, G., Gaona, A., Boni/.zato. A.. S;mgiuolo, F.. Balassopoulou, A., Girnenez, F. 1, Dognini, M., Ravnik-Glavjie, M.. Cikuli, M.. Mokini, V.. Kornel. R , Dallapiccola, B.. hgnatti, P. F, Loukopoulos, I)., Casals, 'l' A Estevill, X (1991) Analysis of 14 cystic fibrosis mutations in five Soutli European populations. Hum Genet.. 87,737 - 738.
  • 14. Kerem, B., Zieliński, J., Markiewicz, D., Bozon, D., Gazit. li., Yaliav. J.. Kennedy. D., Riordan, J. R., Collins, F. S., Ronunens, J. M. & Tsui, L.-C. (1990) Identification of mutations in regions corresponding to llie two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc. Nail. Acad. ScL, U.S.A., 87. 8447 - 8451.
  • 15. Simon-Bouy, B„ Momet. E.,Scrrc, J. L, Tai Handier, A., Boue, 1. & Boue, A. (1991) Nine mutations in the cystic fibrosis (CIO gene account for 80% of the CF chromosomes in French patients. Clin. Genet., 40, 218 - 224.
  • 16. Guilleniul, H., Fanen. P. & Ferec, C. (1990) A 3' splice site consensus sequence mutation in the cystic fibrosis gene. Hum. Genet., 85,450 - 453.
  • 17. Osborne. I.., Knight, R., Santis, G. & Ihxlson, M. (1990) A mutation in the second nucleotide binding fold of the cystic fibrosis gene. Am ./. Hum. Genet., 48.608 - 612.

Typ dokumentu

Bibliografia

Identyfikatory

Identyfikator YADDA

bwmeta1.element.agro-article-61143b28-3bf9-42b6-9fe6-449f610b2afd
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