Screening for AZFc Partial Deletions in Dravidian Men with Nonobstructive Azoospermia and Oligozoospermia

Abstract

Context: Dravidians are the predominant population residing in South India with a diverse genetic structure. Considering various genetic discoveries taking place today, it is evident that deletions in the AZFc region are the most common cause of severe spermatogenic failure (SSF) in various populations studied. However, it is significant to note that there is a paucity of scientific literature on AZFc subdeletion screening among the Dravidian population. Objective: To investigate the prevalence and association of AZFc subdeletion patterns among Dravidian men with nonobstructive azoospermia (NOA) and oligozoospermia. Methods: A population of 354 subjects, including 120 patients with NOA, 109 with oligozoospermia, and 125 normal male controls, were screened using locus-specific sequence tag site markers. Results: We found 21 (9.17%) patients with classical AZF deletion, while no deletions were observed in controls. After excluding the samples with AZF deletions, the remaining 208 infertile and 125 control samples were screened for partial AZFc deletions using a standardized multiplex polymerase chain reaction and on analysis revealed that 13 (6.25%) of the infertile samples possessed gr/gr subdeletions and 15 (7.21%) of the infertile samples possessed b2/b3 subdeletions. Six (4.8%) of the normal samples were found to carry gr/gr subdeletions and two (1.6%) had b2/b3 deletions. The b1/b3 deletion was not observed in any of the patient and control samples screened. Conclusion: Our finding shows that there is a strong association between b2/b3 subdeletion and SSF in the Dravidian population (odds ratio, 4.78; 95% confidence interval 1.07-21.26) ( p = 0.018). Further studies, including gene copy typing for DAZ and CDY genes and a comprehensive haplogrouping analysis, are recommended in a large and wellselected patient group to elude the genetic mechanism behind this association.

Development and implementation of a novel panel consisting 20 markers for the detection of genetic causes of male infertility

“…Obtaining 4.72% rate of azoospermia factor, microdeletions of the Y chromosome in severe oligozoospermic men and azoospermic infertile men support this hypothesis that AZFa, b, d and c sub‐regions of the Y chromosome are critical for spermatogenesis. Although this estimation was lower than the previously reported data, this deduction was mentioned in other studies (Ambulkar et al., ; Omrani, Samadzadae, Bagheri, & Attar, ; Totonchi et al., ; Vijesh, Nambiar, Mohammed, Sukumaran, & Suganthi, ; Zaimy et al., ). Testicular sperm extraction (TESE) is not advisable on azoospermic carriers of AZFa, AZFabc, AZFbc and AZFb microdeletions.…”

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

“…The involvement of b1/b3 is yet controversial. In the present study and that reported recently [35], b1/b3 deletions were not found to be associated with male infertility; however, Shahid et al [34] found a significantly higher numbers of infertile subjects with b1/b3 deletions. At present, the reason for such discrepant findings is unknown; to rule out an effect of sample numbers, we pooled the data from all the three studies and analysed the data statistically.…”

“…To strengthen the statistical analysis we pooled the data derived from this study and also reported earlier in the Indian population [34,35]. The results revealed that the gr/ gr deletions were significantly higher in azoospermic and oligozoospermic men.…”

“…In one study [34], gr/gr and b1/b3 but not b2/b3 deletions are associated with male infertility. However, in another study, only b2/b3 deletions were found to be associated with male infertility [35]. Thus more studies are required to determine the association of AZFc subdeletions and male infertility in Asian population.…”

Molecular Genetic and Laboratory Findings in Infertile Men With Non-Obstructive Azoospermia

“…This was higher than previously reported in Germany (1%) (20) , South Iran (1.25%) (21) , and India (0.97%) (22) . However; This prevalencewas Ashraf A. Abd El-Latif.et al 132 less than previous studies on Egyptian azoospermic men; 5% (16) , and 9.2% (18) ; and also patients from other countries; 7.4 in a Han-Chinese population (23) , and 9.17% in Dravidian-Indian (24) .…”