Screening of Y chromosome microdeletion which contains AZF regions in 71 Turkish azoospermic men


Okutman-Emonts O., PEHLİVAN S., Tavmergen E., Tavmergen-Goker E., Ozkinay F.

GENETIC COUNSELING, vol.15, no.2, pp.199-205, 2004 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 15 Issue: 2
  • Publication Date: 2004
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.199-205
  • Keywords: azoospermia factor (AZF), azoospermic men, microdeletion, Y chromosome, INTRACYTOPLASMIC SPERM INJECTION, MALE-INFERTILITY, LONG ARM, SEVERE OLIGOZOOSPERMIA, DAZ GENE, DELETIONS, TRANSMISSION, FERTILITY, FATHER, MALES
  • Istanbul University Affiliated: No

Abstract

Screening of Y chromosome microdeletion which contains AZF regions in 71 turkish azoospermic men: In 71 Turkish men Y chromosome microdeletions have been studied before intracytoplasmic sperm injection (ICSI). DNA samples were amplified with 18 STS primers of the azoospermia factor (AZF) region on the Y chromosome by using multiplex polymerase chain reaction (PCR). Microdeletions were detected in 4 azoospermic men (5.6%); one with a deletion in the AZFb region, while the 3 others had a large deletion extending over multiple chromosomal regions (AZFb+c+d and AZFa+b+c+d). In the patients with microdeletion, no spermatogenetic activity could be detected in testis biopsies. This result confirms the idea that Y chromosome microdeletion analysis is important in investigating the possibility of finding sperm in testicular sperm extraction (TESE). Therefore, we point out the importance of genetic testing and counselling regarding Y chromosome microdeletion for couples requesting ICSI.