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Detection of CFTR gene mutations in azoospermia patients with congenital unilateral absence of the vas deferens

Yang, X.-j.; Yuan, P.; Wu, X.; Zhang, H.; He, Q.-q.; Zhang, Y.

Zhonghua Nan Ke Xue 21(3): 229-233

2015

ISSN/ISBN: 1009-3591
PMID: 25898554
Document Number: 683198
To discuss the results and significance of the detection of the CFTR gene mutation in azoospermia patients with congenital unilateral absence of the vas deferens (CUAVD). We collected peripheral blood samples from 6 azoospermia patients with CUAVD for detection of the CFTR gene mutations and single nucleotide polymorphisms. We analyzed the genome sequences of the CFTR gene in comparison with the website of the UCSC Genome Browser on Human Dec. 2013 Assembly. Missense mutation of c. 592G > C in exon 6 was found in 1 of the 6 azoospermia patients with CUAVD and splicing mutation of c. 1210-12T[5] was observed in the noncoding region before exon 10 in 2 of the patients, both with the V470 haplotype in exon 11. Mutations of the CFTR gene can be detected in azoospermia patients with CUAVD and the detection of the CFTR gene mutation is necessary for these patients.

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Slezak, R.; Szczepaniak, M.łg.; Pasińska, M.; Czemarmazowicz, H. 2007: The analysis of CFTR mutations in men with azoospermia, oligozoospermia and asthenozoospermia Ginekologia Polska 78(8): 605-610
Pruksananonda, K.; Suwajanakorn, S.; Ahnonkitpanich, V.; Boonkasemsanti, W.; Virutamasen, P. 1998: Successful pregnancy in a case of azoospermia from congenital bilateral absence of vas deferens (CBAVD) using percutaneous epididymal sperm aspiration (PESA) and intracytoplasmic sperm injection (ICSI) Journal of the Medical Association of Thailand 81(5): 379-384
Greil, I.; Wagner, K.; Eber, E.; Zach, M.; Rosenkranz, W. 1995: Molecular and clinical findings in Austrian cystic fibrosis patients with mutations in exon 11 of the CFTR gene Wiener Klinische Wochenschrift 107(15): 464-469
Dumur, V.; Gervais, R.; Rigot, J.M.; Delomel-Vinner, E.; Lafitte, J.J.; Roussel, P. 1995: Congenital bilateral absence of vas deferens in absence of cystic fibrosis Lancet 345(8943): 200-201
Qiao, D.; Wu, H. 2004: Congenital absence of the vas deferens Zhonghua Nan Ke Xue 10(10): 775-778; 780
Valle, E.P.; Burgos, R.I.; Valle, J.é R.én.; Egas Béjar, D.; Ruiz-Cabezas, J.-C. 2007: Analysis of CFTR gene mutations and cystic fibrosis incidence in the Ecuadorian population Investigacion Clinica 48(1): 91-98
Darewicz, J. 1970: Congenital bilateral absence of ductus deferens as a cause of infertility Wiadomosci Lekarskie 23(4): 327-329
Kravchenko, S.A.; Livshits, L.A. 1993: An analysis of mutations in the 7th, 10th and 11th exons and of the polymorphism of the 4 nucleotide tandem repeats from the 3' end of the 6th intron of the CFTR gene in families from Ukraine with a high risk of mucoviscidosis Tsitologiia i Genetika 27(4): 72-77
Yuan, B.-b.; Shan, Q.-j.; Yang, B.; Chen, M.-l.; Zou, J.-g.; Chen, C.; Xu, D.-j.; Cao, K.-j. 2008: Detection of gene mutations of SCN5A in 7 patients with Brugada syndrome Zhonghua Xin Xue Guan Bing Za Zhi 36(5): 404-407
De Smet, L. 2005: Unilateral congenital absence of the lunate and scaphoid Genetic Counseling 16(4): 413-415
Freiberger, T.; Kuhrová, V.; Kozák, L.; Soska, V.; Pekarík, V.; Mĕrínská, L.; Fajkusová, L.; Francová, H. 1998: Direct detection of mutations in the LDL receptor gene in patients with familial hypercholesterolemia Casopis Lekaru Ceskych 137(24): 750-752
Cremonesi, L.; Seia, M.; Magnani, C.; Ferrari, M. 1991: Rapid detection of 1717-1G----A mutation in CFTR gene by PCR-mediated site-directed mutagenesis Clinical Chemistry 37(11): 1967
Horovenko, N.H.; Ol'khovych, N.V.; Nedoboĭ, A.M.; Pichkur, N.O. 2007: Detection of the frequencies of GBA gene major mutations in patients with Gaucher disease in Ukraine Tsitologiia i Genetika 41(4): 41-47
Murua Escobar, H.; Günther, K.; Richter, A.; Soller, J.T.; Winkler, S.; Nolte, I.; Bullerdiek, Jörn. 2004: Absence of ras-gene hot-spot mutations in canine fibrosarcomas and melanomas Anticancer Research 24(5a): 3027-3028
Smagulova, F.O.; Morozov, I.V. 2000: Spectrum and methods of detection of mutations in a phenylalanine hydroxylase gene from patients with phenylketonuria from the Novosibirsk region Bioorganicheskaia Khimiia 26(11): 838-843
Mihic-Probst, D.; Perren, A.; Schmid, S.; Saremaslani, P.; Komminoth, P.; Heitz, P.U. 2004: Absence of BRAF gene mutations differentiates spitz nevi from malignant melanoma Anticancer Research 24(4): 2415-2418
Hogg, A.; Onadim, Z.; Baird, P.N.; Cowell, J.K. 1992: Detection of heterozygous mutations in the RB1 gene in retinoblastoma patients using single-strand conformation polymorphism analysis and polymerase chain reaction sequencing Oncogene 7(7): 1445-1451
Tada, M.; Omata, M.; Kawai, S.; Saisho, H.; Ohto, M.; Saiki, R.K.; Sninsky, J.J. 1993: Detection of ras gene mutations in pancreatic juice and peripheral blood of patients with pancreatic adenocarcinoma Cancer Research 53(11): 2472-2474
Eymard, B.; Ioos, C.; Barois, A.; Estournet, B.; Mayer, M.; Fournier, E.; Yasaki, E.; Prioleau, C.; Bauché, S.; Gaudon, K.; Leroy, J.P.; Koenig, J.; Richard, P.; Hantaï, D. 2004: Congenital myasthenic syndromes due to mutations in the rapsyn gene Revue Neurologique (Paris) 160(5 Part 2): S78-S84
Hoffmeister, A.; Keim, V. 1999: CFTR mutations and chronic pancreatitis Zeitschrift für Gastroenterologie 37(11): 1133-1135