• PMID: 20823911
• Gene Name: DAZ1
• Condition: Infertility
• Association: The study provides evidence of association between the occurrence of subdeletions and male infertility as well as the severity of the spermatogenic failure
• Mutation: gr/gr, b1/b3, b2/b3, subdeletions. Haplogroups found in gr/gr deleted azoospermic men include C*, F*, J1, O3e, HG, J1, R2 Y, C*and R1a1
• Population size: 658
• Population details: 236 azoospermic, 182 oligospermic and 240 healthy normozoospermic men
• Sex: Male
• Infertility type: Male infertility
• Associated genes: RBMY, BPY2, CDY1, PRY, CSPG4LY, GOLGA2LY, TTTY3, TTTY4, TTTY5, TTTY6 and TTTY17
• Other associated phenotypes: Sertoli cell-only syndrome, Azoospermia, Oligozoospermia

Associations of Y-chromosome subdeletion gr/gr with the prevalence of Y-chromosome haplogroups in infertile patients

Shahid M, Dhillon VS, Khalil HS, Sexana A, Husain SA.

Microdeletions in azoospermia factor (AZF) region on distal Yq are associated with male infertility and spermatogenic failure due to intra-chromosomal homologous recombination between large nearly identical repeat amplicons and are found in ∼10% of azoospermic and severe oligozoospermic cases. Although AZFc is deleted in azoospermia or oligozoospermia, no definitive conclusion has been drawn for the role of partial AZFc deletions to spermatogenic failure. Therefore, this study is planned to investigate the role of gr/gr subdeletions in individuals with spermatogenic failure and to find its relationship with Y chromosome haplogroups (HGs) in infertile men from Indian population. It is a case-control study involving 236 azoospermic, 182 oligospermic and 240 healthy normozoospermic men. We found 18 gr/gr, 11 b1/b3 and 2 b2/b3 subdeletions in azoospermic patients and 12 gr/gr, 5 b1/b3 and 4 b2/b3 subdeletions in oligospermic patients. However, we also found seven gr/gr deletions in normozoospermic men. Seven patients each with spermatogenic arrest and oligospermia who carry gr/gr subdeletions have deleted DAZ3/DAZ4 genes. A total of 11 patients with sertoli cell-only syndrome (SCOS) and 5 oligospermic patients with gr/gr subdeletions also have DAZ1/DAZ2 genes deleted indicating that deletions of DAZ genes contributed differently to damage to spermatogenic process. L1 HG is found in patients showing b1/b3 subdeletions, whereas HG H1a2 and H1b were found in normozoospermic individuals with gr/gr subdeletions. Our results provide evidence of association between the occurrence of subdeletions and male infertility as well as the severity of the spermatogenic failure. FAU - Shahid, Mohammad AU - Shahid M AD - College of Dentistry, Alkharj University, Alkharj, Kingdom of Saudi Arabia, India. FAU - Dhillon, Varinderpal S AU - Dhillon VS FAU - Khalil, Hesham Saleh AU - Khalil HS FAU - Sexana, Anubha AU - Sexana A