Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population

Prenatal Diagnosis

Volumn 16, Issue 3, 1996, Pages 215-222

  Casals, Teresa ^a   Gimenez, Javier ^a   Ramos, Maria D ^a   Nunes, Virginia ^a   Estivill, Xavier ^a  

^a HOSPITAL DURAN I REYNALS   (Spain)

Author keywords

CF; CFTR; cystic fibrosis; heterogeneity; mutation analysis

Indexed keywords

ARTICLE; CYSTIC FIBROSIS; FAMILY STUDY; FETUS; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HUMAN; MAJOR CLINICAL STUDY; MUTANT; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SPAIN;

AMNIOTIC FLUID; CHORIONIC VILLI; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA, SATELLITE; FEMALE; FETAL DISEASES; GENES, RECESSIVE; GENETICS, POPULATION; GENOTYPE; HETEROZYGOTE; HUMANS; PEDIGREE; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PREGNANCY TRIMESTER, SECOND; PRENATAL DIAGNOSIS; SPAIN;

EID: 0029872807     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199603)16:3<215::AID-PD838>3.0.CO;2-7     Document Type: Article

References (34)

1. Baranov, V.S., Gorbunova, V.N., Ivaschenko, T.E., Shwed, N.Y., Osinovskaya, N.S., Kascheeva, T.K., Lebedev, V.M., Mikhailov, A.V., Vakharlovsky, V.G., Kuznetzova, T.V. (1992). Five years' experience of prenatal diagnosis of cystic fibrosis in the former U.S.S.R., Prenat. Diagn., 12, 575-586.
2. Beaudet, A.L., Feldman, G.L., Fernbach, S.D., Buffone, G.J., O'Brien, W.E. (1989). Linkage disequilibrium, cystic fibrosis, and genetic counselling, Am. J. Hum. Genet., 44, 319-326.
3. Boat, T.F., Welsh, M.J., Beaudet, A.L. (1989). Cystic fibrosis. In: Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D. (Eds). The Metabolic Basis of Inherited Disease, 6th edn, New York: McGraw-Hill, 2649-2680.
4. Bonizzato, A., Bisceglia, L., Marigo, C., Nicolis, E., Bombieri, C., Castellani, C., Borgo, G., Zelante, L., Mastella, G., Cabrini, G., Gasparini, P., Pignatti, P.F. (1995). Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from northeastern Italy: identification of 90% of the mutations, Hum. Genet., 95, 397-402.
5. Boué, A., Muller, F., Nézelof, F., Boué, J. (1986). Prenatal diagnosis in 200 pregnancies with 1/4 risk of cystic fibrosis, Hum. Genet., 74, 288-297.
6. Brambati, B., Simoni, G., Travi, M., Danesino, C., Tului, L., Privitera, O., Stioui, S., Tedeschi, S., Russo, S , Primignani, P. (1992). Genetic diagnosis by chorionic villus sampling before 8 gestational weeks: efficiency, reliability, and risks on 317 completed pregnancies, Prenat. Diagn., 12, 789-799.
7. Brock, D.J.H. (1983). Amniotic fluid alkaline phosphatase isoenzymes in early prenatal diagnosis of cystic fibrosis, Lancet, ii, 941-943.
8. Casals, T., Nunes, V., Gimenez, J., Parra, J., Estivill, X. (1990). Diagnostico prenatal de fibrosis quistica en familias espanolas utilizando marcadores del DNA: nuestra experiencia en 1987-1989, An. Esp. Pediatr., 4, 287-292.
9. Casals, T., Nunes, V., Lazaro, C., Gimenez, J., Girbau, E., Volpini, V., Estivill, X. (1991). Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families, J. Med. Genet., 28, 771-776.
10. Chevalier-Porst, F., Bonardot, A.M., Gilly, R., Chazalette, J.P., Mathieu, M., Bozon, D. (1994). Mutation analysis in 600 French cystic fibrosis patients, J. Med. Genet., 31, 541-544.
11. Chilien, M., Casals, T., Giménez, J., Ramos, M.D., Palacio, A., Morral, N., Estivill, X., Nunes, V. (1994a). Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes, Hum. Genet., 93, 447-451.
12. Chillón, M., Casals, T., Giménez, J., Nunes, V., Estivill, X. (1994b). Analysis of the CFTR gene in the Spanish population: SSCP screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1G→A and 3667del4), Hum. Mutat., 3, 223-230.
13. Claustres, M., Laussei, M., Desgeorges, M., Giansily, M., Culard, J.F., Razakatsara, G., Demaille, J. (1993). Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91-2% of the mutant alleles in southern France, Hum. Mol. Genet., 8, 1209-1213.
14. Estivill, X., Mortal, N., Casals, T., Nunes, V. (1991). Prenatal diagnosis of cystic fibrosis by multiplex PCR of mutation and microsatellite alleles, Lancet, 338, 458.
15. European Working Group on Cystic Fibrosis (EWGCFG) (1990). Gradient of distribution in Europe of the major CF mutation and of its associated haplotype, Hum. Genet., 85, 436-445.
16. Fanen, P., Ghanem, N., Vidaud, M., Besmond, C., Martin, J., Costes, B., Plassa, F., Goossens, M. (1992). Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions, Genomics, 13, 770-776.
17. Farrall, M., Estivill, X., Williamson, R. (1987). Cystic fibrosis: indirect carrier detection, Lancet, 2, 156-157.
18. Grompe, M. (1993). The rapid detection of unknown mutations in nucleic acids, Nature Genet., 5, 111-117.
19. Kanavakis, E., Tzetis, M., Antoniadi, Th., Traeger-Synodinos, J., Doudounakis, S., Adam, G., Matsaniotis, N., Kattamis, C. (1995). Mutation analysis of 10 exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74-5% of CF alleles including 1 novel mutation, Hum. Genet., 96, 364-366.
20. Kerem, B.-S., Rommens, J.M., Buchanan, J.A., Markiewicz, D., Cox, T.K., Chakravarti, A., Buchwald, M., Tsui, L.-C. (1989). Identification of the cystic fibrosis gene: genetic analysis, Science, 245, 1073-1080.
21. Kunkel, L.M., Smith, K.D., Boyer, S.H., Borgaonkar, D.S., Watchel, S.S., Miller, O.J., Breg, W.R., Jone, H.W., Rary, J.M. (1977). Analysis of human chromosome specific reiterated DNA in chromosome variants, Proc. Natl. Acad. Sci. USA, 74, 1245-1249.
22. McIntosh, I., Raeburn, J.A., Curtis, A., Brock, D.J.H. (1989). First-trimester prenatal diagnosis of cystic fibrosis by direct gene probing, Lancet, ii, 972-973.
23. Miller, S.A., Dykes, D.D., Polesky, H.F. (1988). A simple salting out procedure for extracting DNA from human nucleated cells, Nucleic Acids Res., 16, 1215.
24. Morral, N., Estivill, X. (1992). Multiplex PCR amplification of three microsatellites within the CFTR gene, Genomics, 13, 1362-1364.
25. Morral, N., Nunes, V., Casals, T., Chillón, M., Giménez, J., Bertranpetit, J., Estivill, X. (1993). Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers, Hum. Mol. Genet., 2, 1015-1022.
26. Morral, N., Dörk, T., Llevadot, R., Dziadek, V., Mercier, B., Fèrec, C., Costes, B., Girodon, E., Zielenski, J., Tsui, L.-C., Tümmler, B., Estivill, X. (1996). Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers, Hum. Mutat., in press.
27. Novelli, G., Sangiuolo, F., Dallapiccola, B., Gasparini, P., Savoia, A., Pignatti, P.F., Fernández, E., Benitez, J., Casals, T., Nunes, V., Mañá, P., Estivill, X. (1990). Δ508 gene deletion and prenatal diagnosis of cystic fibrosis in Italian and Spanish families, Prenat. Diagn., 10, 413-416.
28. Nunes, V., Gaona, A., Chillón, M., Mañá, P., Casals, T., Cutting, G., Estivill, X. (1991). Prenatal diagnosis of cystic fibrosis by simultaneous analysis of two different mutations, Prenat. Diagn., 11, 671-672.
29. Rebello, M.T., Abas, A., Nicolaides, K., Coleman, D.V. (1994). Maternal contamination of amniotic fluid demonstrated by DNA analysis, Prenat. Diagn., 14, 109-112.
30. Rommens, J.M., Iannuzi, M.C., Kerem, B.-S., Drumm, M.L., Melmer, G., Dean, M., Rozmahel, R., Cole, J.L., Kennedy, D., Hidaka, N., Zsiga, M., Buchwald, M., Riordan, J.R., Tsui, L.-C., Collins, F.S. (1989). Identification of the cystic fibrosis gene: chromosome walking and jumping, Science, 245, 1059-1065.
31. Savov, A., Mercier, B., Kalaydjieva, L., Férec, C. (1994). Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the 27 exons and exon/intron boundaries using DGGE and direct DNA sequencing, Hum. Mol. Genet, 3, 57-60.
32. Strain, L., Curtis, A., Mennie, M., Holloway, S., Brock, D.J.H. (1988). Use of linkage disequilibrium data in prenatal diagnosis of cystic fibrosis, Hum. Genet., 80, 75-77.
33. The Cystic Fibrosis Genetic Analysis Consortium (CFGAC) (1994). Population variation of common cystic fibrosis mutations, Hum. Mutat., 4, 167-177.
34. Tsui, L.-C. (1992). Mutations and sequence variations detected in the cystic fibrosis conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium, Hum. Mutat., 1, 197-203.