Clinical and prognostic importance of chromosomal abnormalities, Y chromosome microdeletions, and CFTR gene mutations in individuals with azoospermia or severe oligospermia

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dc.authorid0000-0002-4313-8478
dc.contributor.authorOcak, Zeynep
dc.contributor.authorÜyetürk, Uğur
dc.contributor.authorDinçer, Muhammet Murat
dc.date.accessioned2021-06-23T19:36:58Z
dc.date.available2021-06-23T19:36:58Z
dc.date.issued2014
dc.departmentBAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractAim: To illustrate the importance of genetic screening in the assessment of fertility and the correct diagnosis in patients with azoospermia or severe oligospermia. Materials and methods: This study examined 500 patients with reproductive failure, having fewer than 5 million sperm/mL detected in at least 2 consecutive spermiograms, who presented at a medical genetics polyclinic between 2008 and 2012. Metaphase preparations obtained from cell cultures were stained by trypsin-Giemsa banding. After DNA isolation, Y chromosome loci, including AZFa (SY84, SY86), AZFb (SY127, SY134), AZFc (SY254 SY255), and AZFd, were amplified by polymerase chain reaction using specific primers. Thirty-five patients with congenital unilateral absence of the vas deferens or congenital bilateral absence of the vas deferens (CBAVD) and a positive cystic fibrosis family history were evaluated for cystic fibrosis transmembrane conductance regulator gene mutations. Results: No chromosomal abnormalities were noted in 440 (88%) of the 500 patients, whereas structural or numerical chromosomal abnormalities were detected in 60 patients (12%). Individuals with Y deletions made up 5.6% (n = 28) of the study sample. Three patients with no AZF deletion or chromosomal abnormality, but with CBAVD, were heterozygous for I148T, G1130A, or IVS3 406-3T> C mutations. Conclusion: This study shows that genetic testing can make an important contribution to the treatment of patients planning in vitro fertilization due to azoospermia or severe oligospermia.en_US
dc.identifier.doi10.3906/sag-1301-67
dc.identifier.endpage351en_US
dc.identifier.issn1300-0144
dc.identifier.issn1303-6165
dc.identifier.issue2en_US
dc.identifier.pmid25536748en_US
dc.identifier.scopus2-s2.0-84892424133en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage347en_US
dc.identifier.trdizinid213069en_US
dc.identifier.urihttps://doi.org/10.3906/sag-1301-67
dc.identifier.urihttps://hdl.handle.net/20.500.12491/8085
dc.identifier.volume44en_US
dc.identifier.wosWOS:000329790100029en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorOcak, Zeynep
dc.institutionauthorÜyetürk, Uğur
dc.language.isoenen_US
dc.publisherTubitak Scientific & Technical Research Council Turkeyen_US
dc.relation.ispartofTurkish Journal Of Medical Sciencesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectInfertilityen_US
dc.subjectY chromosome Microdeletionen_US
dc.subjectCystic Fibrosis Transmembrane Conductance Regulatoren_US
dc.titleClinical and prognostic importance of chromosomal abnormalities, Y chromosome microdeletions, and CFTR gene mutations in individuals with azoospermia or severe oligospermiaen_US
dc.typeArticleen_US

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