SRY and AZF gene variation in male infertility: a cytogenetic and molecular approach.
OBJECTIVE
The aim of this study was to identify the genetic effects of Y chromosome and azoospermia factor (AZF) gene variation in men with infertility and to elucidate the molecular mechanism responsible for the identified point mutation.


METHODS
Chromosome analysis was performed according to standard methods on lymphocyte cultured cells and genomic DNA was extracted from the peripheral blood. Three sets of primers were used encompassing the AZFb, AZFc and SRY14 gene regions. Products were genotyped with single-strand comformational polymorphisim (SSCP) analysis.


RESULTS
The profiles of the mutated genes were detected in five of three azoospermic and two oligoasthenozoospermic infertile males. The SSCP variability of the AZFc gene was detected in all of the cases, while sex-determining region Y (SRY) gene variation was detected in two of the current cases. Three cases with oligoasthenozoospermia showed mutated SSCP profiles in both their SRY and AZFc gene regions. No AZFb variation was detected in the presented cases.


CONCLUSIONS
The AZF locus is assumed to contain the genes responsible for spermatogenesis in human. Deletions in these genes are thought to be involved in male infertility associated with azoospermia, oligozoospermia and/or both. AZF microdeletions and variations that are seen in infertile males suggest the need for molecular screening of such cases. Advance studies are also needed to detect of these variations and their relevance to male infertility before using assisted reproduction techniques in such cases.
Ozdemir
Ozturk
O
Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University, Sivas, 58140, Turkey. ozdemiro@cumhuriyet.edu.tr
Gul
Eylem
E
Kilicarslan
Hakan
H
Gokce
Gökhan
G
Beyaztas
Fatma Y
FY
Ayan
Semih
S
Sezgin
Ihan
I
D041322:Chromosomes, Human, Y; D004587:Electrophoresis, Agar Gel; D056426:Genetic Loci; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D029589:Seminal Plasma Proteins / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D051876:Sex-Determining Region Y Protein / Q000235:genetics*; D014421:Turkey
D029589:Seminal Plasma Proteins; D051876:Sex-Determining Region Y Protein