Involvement of CFTR gene alterations in obstructive and nonobstructive infertility in men.
作者： M Ravnik-Glavač , N Svetina , B Zorn , B Peterlin , D Glavač
DOI: 10.1089/10906570152742308
关键词:
摘要: There have not been many studies concerning CFTR gene alterations in nonobstructive causes of male infertility and subfertility, those that published, the results reported are concordant. Therefore, we proposed to determine, a representative unselected sample men who were sent for microsurgical epididymal sperm aspiration, if different types impaired fertility associated with alterations. We screened 80 idiopathic azoospermia, 50 severe oligozoospermia, 70 oligoasthenoteratozoospermia, 7 congenital bilateral absence vas deferens (CBAVD), as well 95 controls from Slovenia, mutations 10 exons include majority most common cystic fibrosis (CF) disease causing mutations. also wanted evaluate risk CF children born after intracytoplasmic injection (ICSI) method vitro fertilization (IVF). No tested individual had both all...
liebertonline.com参考文章(31)
Miny, Schloo, Sterility – a genetic burden? Therapeutische Umschau. ,vol. 56, pp. 265- 270 ,(1999) , 10.1024/0040-5930.56.5.265
E Nash, C Graham, B J Rosenstein, A Hill, I Lerer, S M Curristin, D Abeliovich, G R Cutting, Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians. American Journal of Human Genetics. ,vol. 50, pp. 1185- 1194 ,(1992)
Metka Ravnik-Glavač, Michael Dean, Damjan Glavač, Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens Pflügers Archiv: European Journal of Physiology. ,vol. 439, ,(2000) , 10.1007/S004240000089
T. Casals, L. Bassas, J. Ruiz-Romero, M. Chill�n, J. Gim�nez, M.D. Ramos, G. Tapia, H. Narv�ez, V. Nunes, X. Estivill, Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected. Human Genetics. ,vol. 95, pp. 205- 211 ,(1995) , 10.1007/BF00209403
Mireille Claustres, Caroline Guittard, Dominique Bozon, Fran�oise Chevalier, Claudine Verlingue, Claude Ferec, Emanuelle Girodon, C�cile Cazeneuve, Thierry Bienvenu, Guy Lalau, Viviane Dumur, Delphine Feldmann, Eric Bieth, Martine Blayau, Christine Clavel, Isabelle Creveaux, Marie-Claire Malinge, Nicole Monnier, Perrine Malzac, Herv� Mittre, Jean-Claude Chomel, Jean-Paul Bonnefont, Albert Iron, Mich�le Chery, Marie Des Georges, Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Human Mutation. ,vol. 16, pp. 143- 156 ,(2000) , 10.1002/1098-1004(200008)16:2<143::AID-HUMU7>3.0.CO;2-J
C. Quinzii, C. Castellani, The cystic fibrosis transmembrane regulator gene and male infertility Journal of Endocrinological Investigation. ,vol. 23, pp. 684- 689 ,(2000) , 10.1007/BF03343794
Arturo Anguiano, Congenital Bilateral Absence of the Vas Deferens JAMA. ,vol. 267, pp. 1794- 1797 ,(1992) , 10.1001/JAMA.1992.03480130110034
T. Dörk, Bernd Dworniczak, Christa Aulehla-Scholz, Dagmar Wieczorek, Ingolf Böhm, Antonia Mayerova, Hans H. Seydewitz, Eberhard Nieschlag, Dieter Meschede, Jürgen Horst, Hans-Jürgen Pander, Herbert Sperling, Felix Ratjen, Eberhard Passarge, Jörg Schmidtke, Manfred Stuhrmann, Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens Human Genetics. ,vol. 100, pp. 365- 377 ,(1997) , 10.1007/S004390050518
Harry Cuppens, Hui Teng, Peter Raeymaekers, Christine De Boeck, Jean-Jacques Casslman, CFTR haplotype backgrounds on normal and mutant CFTR genes Human Molecular Genetics. ,vol. 3, pp. 607- 614 ,(1994) , 10.1093/HMG/3.4.607
Julian Zielenski, Richard Rozmahel, Dominique Bozon, Bat-sheva Kerem, Zbyszko Grzelczak, John R. Riordan, Johanna Rommens, Lap-Chee Tsui, Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics. ,vol. 10, pp. 214- 228 ,(1991) , 10.1016/0888-7543(91)90503-7