Y chromosome microdeletions in infertile men: prevalence, phenotypes and screening markers for the Indian population

Abstract

Purpose Yq microdeletions are the leading genetic cause of male infertility and its detection is clinically relevant for appropriate genetic counseling. We aimed to determine the prevalence and type of Yq microdeletions, the associated seminal phenotypes and the STS markers that are relevant for its testing in Indian population. Methods Yq microdeletion analysis was carried out in 1,636 infertile cases in our centers. Additional data was collected from published studies in Indian population leading to a total of 3,647 cases. Results In our cohort, 3.4 % (56/1,636) of infertile men had Yq microdeletions. Combining the data from other published studies identified 215/3,647 (5.8 %) infertile individuals to harbor Yq microdeletions; with 6.4 % in azoopsermia, 5.8 % in oligozoospermia and 3.2 % in oligoasthenozoospermia and teratozoospermia cases. No significant differences in the deletion frequencies were observed between idiopathic vs non idiopathic cases (5.8 vs 8.6 % respectively). Deletions of AZFc were at highest frequency (46.6 %) with double deletions most commonly observed in azoospermic subjects. With respect to the STS markers, screening with the six European Academy of Andrology (EAA) markers would miss 3

Association of progesterone receptor gene polymorphism with male infertility and clinical outcome of ICSI

“…A p-value of <0.05 was considered as significant. The 95 % Confidence limits and the Standard Error of Proportion were calculated as described previously [35].…”

“…Testing for Yq microdeletions was done by PCR using six pairs of STS primers that span the azoospermic factor (AZFa, AZFb and AZFc) loci. The primers and the method for STS PCR has been detailed elsewhere [1,2,35]. Individuals with karyotype abnormalities or Yq microdeletions were excluded from the study.…”

“…Microdeletions on the long arm of the Y chromosome (Yq), encompassing critical genes involved in spermatogenesis, has been observed in 5-10 % of infertile men [1,14,26,35]. In addition, mutations/polymorphisms in several autosomal genes have been identified in a subset of individuals with male factor infertility [15,26].…”

Susceptibility of gr/gr rearrangements to azoospermia or oligozoospermia is dependent on DAZ and CDY1 gene copy deletions

“…A biplex PCR amplification using the standard sequence tagged site (STS) primer pair for sY1291/sY1191 along with SRY as the endogenous housekeeping control gene was performed. The amplification reactions were carried out using Red Amp (2X) PCR master mix (Sigma-Aldrich, St Louis., USA) for 35 cycles as detailed previously [2,4,6]. The primer sequences, optimized annealing temperatures and expected PCR product size are given in Supplementary Table. I.…”

“…Microdeletions involving the Azoospermia Factor loci (AZF) on the long arm of the Y chromosome (Yq) are a genetic cause of male infertility and the deletions of the AZFa, AZFb or AZFc loci alone or in combination occur in 2-10 % of men with abnormal seminogram [2][3][4][5][6]. Since Yq microdeletions can be vertically transmitted to the male offspring born after assisted reproduction [7,8], screening for these microdeletions has become a part of the routine diagnostic workup for men with azoospermia or oligozoospermia [5].…”