AZF microdeletions on the Y chromosome of infertile men from Turkey.
Intervals V and VI of Yq11.23 regions contain responsible genes for spermatogenesis, and are named as "azoospermia factor locus" (AZF). Deletions in these genes are thought to be pathogenetically involved in some cases of male infertility associated with azoospermia or oligozoospermia. The aim of this study was to establish the prevalence of microdeletions on the Y chromosome in infertile Turkish males with azoospermia or oligozoospermia. We applied multiplex polymerase chain reaction (PCR) using several sequence-tagged site (STS) primer sets, in order to determine Y chromosome microdeletions. In this study, 61 infertile males were enrolled for the molecular AZF screening program. In this cohort, one infertile male had 46,XX karyotype and the remaining had 46,XY karyotypes. Forty-eight patients had a diagnosis of azoospermia and 13 had oligozoospermia. Microdeletions in AZFa, AZFb and AZFc (DAZ gene) regions were detected in two of the 60 (3.3%) idiopathic infertile males with normal karyotypes and a SRY translocation was determined on 46,XX male. Our findings suggest that genetic screening should be advised to infertile men before starting assisted reproductive treatments.
Sargin
Canan Figen
CF
Department of Medical Genetics, School of Medicine, Akdeniz University, Antalya 07070, Turkey. figensargin@yahoo.co.uk
Berker-Karaüzüm
Sibel
S
Manguoğlu
Esra
E
Erdoğru
Tibet
T
Karaveli
Seyda
S
Gülkesen
Kemal Hakan
KH
Baykara
Mehmet
M
Lüleci
Güven
G
D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y; D015331:Cohort Studies; D005260:Female; D056426:Genetic Loci; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D029589:Seminal Plasma Proteins / Q000235:genetics*; D016324:Sequence Tagged Sites; D012729:Sex Chromosome Aberrations; D014421:Turkey
D029589:Seminal Plasma Proteins