• PMID: 14517364
• Gene Name: DAZ1
• Condition: Infertility
• Association: The frequency of Y-chromosome microdeletion in this study samples (~ 5%) was much lower than the frequency (~ 10%) reported globally and the two previous reports from India. The authors conclude that the frequency may be affected by population structures
• Mutation: Y chromosome microdeletions
• Population size: 180
• Population details: 180 infertile
• Age: 22-40
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Azoospermia, Oligoasthenospermia, Klinefelter syndrome

Idiopathic cases of male infertility from a region in India show low incidence of Y-chromosome microdeletion

Ambasudhan R, Singh K, Agarwal JK, Singh SK, Khanna A, Sah RK, Singh I, Raman R.

Chromosomal and Y-chromosomal microdeletion analysis has been done in cases of idiopathic infertility with the objective of evaluating the frequency of chromosomal and molecular anomaly as the causal factor of infertility. Barring a few cases of Klinefelter syndrome (XXY or XY/XXY mosaics), no chromosomal anomaly was encountered. Y-microdeletion was analysed by PCR-screening of STSs from different regions of the AZF (AZFa, AZFb, AZFc) on the long arm of the Y, as well as by using DNA probes of the genes RBM, DAZ (Yq), DAZLA (an autosomal homologue of DAZ) and SRY (Yp; sex determining gene). Out of 177 cases examined, 9 (azoospermia - 8 and oligoasthenospermia - 1) showed partial deletion of AZF. The size of deletion varied among patients but AZFc was either totally or partially removed in all of them. In contrast, no deletion was detected in AZFa. Testis biopsy done on a limited number of cases (50) showed diverse stages of spermatogenic arrest with no specific correlation with the genotype. The frequency of Y-chromosome microdeletion in our samples (approximately 5%) is much lower than the frequency (approximately 10%) reported globally and the two previous reports from India. We contend that the frequency may be affected by population structures in different geographical regions. FAU - Ambasudhan, R AU - Ambasudhan R AD - Department of Zoology, Banaras Hindu University, Varanasi 221 005, India. FAU - Singh, K AU - Singh K FAU - Agarwal, J K AU - Agarwal JK FAU - Singh, S K AU - Singh SK FAU - Khanna, A AU - Khanna A FAU - Sah, R K AU - Sah RK FAU - Singh, I AU - Singh I