title: TTY2 genes deletions as genetic risk factor of male infertility.
abstract: Y chromosome has a number of genes that are expressed in testis and have a role in spermatogenesis. TTY2L12A and TTY2L2A are the members of testis transcript Y2 (TTY2) that are Y linked multi-copy gene families, located on Yp11 and Yq11 loci respectively. The aim of this study was to investigate frequency of TTY2L12A and TTY2L2A deletions in azoospermic patients compared with fertile males. This study was performed on 45 infertile males with idiopathic azoospermia without any AZF micro deletions (group A), 33 infertile males with azoospermia which do not screened for AZF micro deletions (group B) and 65 fertile males (group C), from October 2013 to April 2015 in west of Iran. Polymerase chain reaction (PCR) method was used for detection of TTY2L12A and TTY2L2A gene deletions in studied groups. No deletions were detected in normal fertile males of group C. 1 out of 45 azoospermic males of group A (2.22%) and 3 out of 33 azoospermic males of group B (9.09%) had TTY2L2A deletion (p= 0.409 and p= 0.036 respectively), also 1 out of 45 azoospermic males of group A (2.22%) and 4 out of 33 azoospermic males of group B (12.12%) had TTY2L12A deletion (p= 0.409 and p= 0.011 respectively).  None of azoospermic males in Group A and B had deletions in both genes. Our data showed significant correlation between non-obstructive azoospermia and TTY2L12A and TTY2L2A deletions. Thus, it seems that TTY2L12A and TTY2L2A deletions can consider as one of the genetic risk factors for non-obstructive azoospermia.
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: F
authors.initials: F
authors.lastname: Shaveisi-Zadeh
authors.affiliation: Department of Biochemistry, School of Medicine, Kermanshah University of Medical Sciences, Kermanshah, Iran.
authors.forename: R
authors.initials: R
authors.lastname: Alibakhshi
authors.affiliation: Medical Biology Research Center, Kermanshah University of Medical Sciences, Kermanshah, Iran.
authors.forename: R
authors.initials: R
authors.lastname: Asgari
authors.affiliation: Molecular Pathology Research Center, Imam Reza Hospital, Kermanshah University of Medical sciences, Kermanshah, Iran.
authors.forename: Z
authors.initials: Z
authors.lastname: Rostami-Far
authors.affiliation: Department of Anatomical Sciences and Biology, Faculty of Medicine, Kermanshah University of Medical Sciences, Kermanshah, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Bakhtiari
authors.affiliation: Department of Urology, School of Medicine, Kermanshah University of Medical Sciences, Kermanshah, Iran.
authors.forename: H
authors.initials: H
authors.lastname: Abdi
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: A
authors.initials: A
authors.lastname: Movafagh
authors.affiliation: Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: R
authors.initials: R
authors.lastname: Mirfakhraie
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000235:genetics; D016022:Case-Control Studies; D041322:Chromosomes, Human, Y / Q000235:genetics; D017353:Gene Deletion; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D007492:Iran; D008297:Male; D016133:Polymerase Chain Reaction; D012307:Risk Factors; D029589:Seminal Plasma Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: D029589:Seminal Plasma Proteins; C497750:TTTY2 protein, human
keywords: Deletion.; Male infertility; TTY2; zoospermia