title: Detection of Y chromosome microdeletions and mitochondrial DNA mutations  in  male infertility patients.
abstract: Infertility affects about 10-15% of all couples  attempting pregnancy with infertility attributed to the male partner in  approximately half of the cases. Proposed causes of male infertility include  sperm motility disturbances, Y chromosome microdeletions, chromosomal  abnormalities, single gene mutations, and sperm mitochondrial DNA (mtDNA)  rearrangements. To investigate the etiology of decreased sperm fertility and  motility of sperm and to develop an appropriate therapeutic strategy, the  molecular basis of these defects must be elucidated. In this study, we aimed to  reveal the relationships between the genetic factors including sperm mtDNA  mutations, Y chromosome microdeletions, and sperm parameters that can be  regarded as candidate factors for male infertility. Thirty men with a history  of infertility and 30 fertile men were recruited to the study. Y chromosome  microdeletions were analyzed by multiplex PCR. Mitochondrial genes ATPase6, Cytb, and ND1, were amplified by PCR and then analyzed by direct  sequencing. No Y chromosome microdeletions were detected in either group.  However, a total of 38 different nucleotide substitutions were identified in  the examined mitochondrial genes in both groups, all of which are statistically  non-significant. Fifteen substitutions caused an amino acid change and 12 were  considered novel mutations. As a conclusion, mtDNA mutations and Y chromosome  microdeletions in male infertility should be examined in larger numbers in  order to clarify the effect of genetic factors.
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Marmara University, Istanbul, Turkey. ilterg@hotmail.com
authors.forename: A I
authors.initials: AI
authors.lastname: Güney
authors.forename: D
authors.initials: D
authors.lastname: Javadova
authors.forename: D
authors.initials: D
authors.lastname: Kırac
authors.forename: K
authors.initials: K
authors.lastname: Ulucan
authors.forename: G
authors.initials: G
authors.lastname: Koc
authors.forename: D
authors.initials: D
authors.lastname: Ergec
authors.forename: H
authors.initials: H
authors.lastname: Tavukcu
authors.forename: T
authors.initials: T
authors.lastname: Tarcan
mesh_terms: D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y; D017931:DNA Primers; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; D004272:DNA, Mitochondrial