[Genetic aspects of male infertility].
We examined 118 men with infertility. Among them we identified phenotypic syndromes associated with infertility in 4 and chromosomal abnormalities in 16. Further molecular genetic study of 98 infertile men found that microdeletions in AZFc-locus had 3, pathological AR allele had 2, CFTR gene mutation had 4 of them. In 37 infertile men an increased DNA fragmentation index (>20%) was found.
D002869:Chromosome Aberrations; D041322:Chromosomes, Human, Y / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D053938:DNA Fragmentation; D005260:Female; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D007619:Kartagener Syndrome / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009154:Mutation; D009845:Oligospermia / Q000235:genetics; D010375:Pedigree; D011944:Receptors, Androgen / Q000235:genetics
C410798:AR protein, human; C505032:CFTR protein, human; D011944:Receptors, Androgen; D019005:Cystic Fibrosis Transmembrane Conductance Regulator