Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens (original) (raw)
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References
- Anguiano A, Oates RD, Amos JA, Dean M, Gerrard B, Stewart C, Maher TA, White MB, Milunsky A (1992) Congenital absence of the vas deferens: a primarily genital form of cystic fibrosis. JAMA 267:1794–1797
Google Scholar - Claustres M, Laussel M, Desgeorges M, Giansily M, Culard JF, Razakatsara G, Demaille J (1993) Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 92.1% of the mutant alleles in Southern France. Hum Mol Genet 2:1209–1213
Google Scholar - Cremonesi L, Ferrari M, Belloni E, Magnani C, Seia M, Ronchetto P, Rady M, Russo MP, Romeo G, Devoto M (1992) Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes. Hum Mutat 1:314–319
Google Scholar - Dumur V, Gervais R, Rigot JM, Lafitte JJ, Manouvrier S, Biserte J, Mazeman E, Roussel P (1990) Abnormal distribution of CF ΔF508 allele in azoospermic men with congenital aplasia of epdidymis and vas deferens. Lancet 336:512
Google Scholar - 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 junctions. Genomics 13:770–776
Google Scholar - Ferec C, Audrezet MP, Mercier B, Guillermit H, Mouiller P, Quere I, Verlingue C (1992) Detection of over 98% cystic fibrosis mutations in a Celtic population. Nature Genet 1:188–191
Google Scholar - Gasparini P, Nunes V, Savoia A, Dognini M, Morral N, Gaona A, Bonizzato A, Chillon M, Sangiuolo F, Novelli G, Dallapiccola B, Pignatti PF, Estivill X (1991) The search for Southern European cystic fibrosis mutations: identification of two new mutations, four variants, and intron sequences. Genomics 10:193–200
Google Scholar - Gervais R, Dumur V, Rigot JM, Lafitte JJ, Roussel P, Claustres M, Demaille J (1993) High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens. N Engl J Med 328:446–447
Google Scholar - Holsclaw DS, Perlmutter AD, Jockin H, Schwachman H (1971) Genital abnormalities in male patients with cystic fibrosis. J Urol 106:568–574
Google Scholar - Kerem B-S, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahav J, Kennedy D, Riordan JR, Collins FS, Rommens JM, Tsui L-C (1990) Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci USA 87:8447–8451
Google Scholar - Rommens J, Kerem BS, Gree W, Chang P, Tsui L-C, Ray P (1990) Rapid nonradioactive detection of the major CF mutation. Am J Hum Genet 46:395–396
Google Scholar - Silber SJ, Ord T, Balmaceda J, Patrizio P, Asch RH (1990) Congenital absence of the vas deferens -the fertilizing capacity of human epididymal sperm. N Engl J Med 323:1788–1792
Google Scholar - Tizzano EF, Chitayat D, Buchwald M (1993) Cell specific localization of CFTR mRNA shows developmentally-regulated expression in human fetal tissues. Hum Mol Genet 2:219–224
Google Scholar - Trezise AO, Linder CC, Grieger D, Thompson EW, Meunier H, Griswold MD, Buchwald M (1993) CFTR expression is regulated during both the cycle of the seminiferous epithelium and the oestrous cycle of rodents. Nature Genet 3:157–164
Google Scholar