SRY and AZF gene variation in male infertility: a cytogenetic and molecular approach

Küçük Resim Yok

Tarih

2007

Yazarlar

Ozdemir, Ozturk
Gul, Eylem
Kilicarslan, Hakan
Gokce, Goekhan
Beyaztas, Fatma Y.
Ayan, Semih
Sezgi, Ihan

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

SPRINGER

Erişim Hakkı

info:eu-repo/semantics/closedAccess

Özet

Aim 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.

Açıklama

Anahtar Kelimeler

SSCP analysis, AZF gene, men infertility

Kaynak

INTERNATIONAL UROLOGY AND NEPHROLOGY

WoS Q Değeri

Q4

Scopus Q Değeri

Q2

Cilt

39

Sayı

4

Künye