• PMID: 16123079
• Gene Name: DAZ1
• Condition: Infertility
• Association: The studies suggest that gr/gr deletions are significantly associated with infertility in australian population. The data suggest that testing for gr/gr deletions should be considered in the routine genetic assessment of men with idiopathic infertility
• PMID: 16123079
• Gene Name: DAZ1
• Condition: Male infertility
• Association: These data show that gr/grdeletions are significantly associated with infertility in the Australian population (P = 0.0015) but not exclusively with reduced sperm density suggesting a complex interaction with other factors important for male fertility. Ve
• Mutation: AZFc deletions
• Population size: 833
• Population details: 833 (234 control men, 599 consecutive men presenting for assisted reproductive technologies)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility

The Y chromosome gr/gr subdeletion is associated with male infertility

Lynch M, Cram DS, Reilly A, O'Bryan MK, Baker HW, de Kretser DM, McLachlan RI.

Men with Y chromosome (Yq) AZFc deletions lack all copies of the DAZ gene and have severe spermatogenic failure. A recently described gr/gr subdeletion of AZFc removes two of four copies of DAZ. To better understand the relative frequencies of AZFc and gr/gr deletions and their associated phenotypes, we analysed two large groups of infertile men. A total of 788 men from the Monash Male Infertility (MMI) database with a range of fertility disorders showed similar overall prevalences of AZFc (2.5%) and gr/gr deletions (3.4%). There was no association of gr/gr deletions with sperm density. In 234 control men of known or presumed fertility, only one gr/gr deletion was found. In a further 599 consecutive men presenting for assisted reproductive technologies, we detected 13 (2.2%) AZFc deletions and 28 (4.7%) gr/gr deletions. All AZFc deletions were seen with sperm densities <5 million/ml but again the gr/gr deletion occurred with similar frequency across all sperm density categories. These data show that gr/gr deletions are significantly associated with infertility in the Australian population (P = 0.0015) but not exclusively with reduced sperm density suggesting a complex interaction with other factors important for male fertility. Vertical transmission of gr/gr deletions from father to son by ICSI was demonstrated in four cases. Analysis of 130 ICSI-conceived sons revealed no de novo gr/gr deletions indicating that ICSI is not a risk factor. The data suggest that testing for gr/gr deletions should be considered in the routine genetic assessment of men with idiopathic infertility. FAU - Lynch, M AU - Lynch M AD - Prince Henry's Institute of Medical Research, Monash University, Monash Medical Centre, Clayton, Victoria, Australia. FAU - Cram, D S AU - Cram DS FAU - Reilly, A AU - Reilly A FAU - O'Bryan, M K AU - O'Bryan MK FAU - Baker, H W G AU - Baker HW FAU - de Kretser, D M AU - de Kretser DM