Correlation between Y chromosome microdeletion and male infertility

Abstract

ABSTRACT. Dyszoospermia due to genetic factors is the leading cause of male infertility. To explore the correlation between azoospermia factor (AZF) microdeletion of the Y chromosome and male infertility, we evaluated AZF microdeletion on the long arm of the Y chromosome in 166 infertile males and 50 fertile males using multiplex polymerase chain reactions amplification and gel electrophoresis. The results demonstrated that 28 individuals had varying degrees of microdeletion in the AZF region (16.90%); 12 out of the 76 males with azoospermia and 16 out of the 90 males with oligospermia had AZF microdeletion. AZF microdeletion was not observed in any of the healthy controls. In addition, 53.60% of the AZF microdeletions occurred in the AZFc region. It can be concluded that AZF microdeletion on the long arm of the Y chromosome can result in male spermatogenesis dysfunction. Detection of AZF microdeletion can provide a theoretical basis for genetic counseling, as well as improve the diagnosis and treatment of this disease.

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

“…Our results were confirmed. The frequency of microdeletions in AZFc sub‐region was higher than AZFa and AZFb as other studies declared (Liu, Hu et al., ; Liu, Wang et al., ). It should be noticed that in patients with AZFabc, AZFab, AZFb and AZFa microdeletions it is impossible to achieve pregnancy (Hopps et al., ; Kilic et al., ; Kleiman et al., ; Krausz et al., ).…”

“…Detection of these microdeletions on the Y chromosome helps to determine which factors may lead to infertility in men. Based on the location of the deleted sub‐regions, it would be helpful to predict the patients’ prognosis to treatment (Liu, Hu, Guo, & Sun, ). Nowadays, only infertile men with severe oligozoospermia or azoospermia are being studied for Y chromosome deletions.…”

An Efficient Access to Pyrimidine‐based Polyfunctional Heterocycles with Anticipated Antibacterial Activity

“…Interestingly, pyrimidines are not only revealing a profound antitumor activity but also acting as unique HIV reverse transcriptase inhibitors . Moreover, many pyrimidine derivatives are considered to be antibiotics, anticonvulsant, and calcium channel blockers . Clearly, pyrimidines owe their therapeutic applications to the fact that pyrimidine base is existing in uracil, thymine, and cytosine, which are crucial building units of the two essential nucleic acids, deoxyribonucleic acid, and ribonucleic acid.…”

Diagnosis of geneticforms of azoospermia

“…Male infertility is a polyetiological disease [1], which may be due to genetic factors. Genetic abnormalities are available azoospermia in 30-50% of patients [5,6,8].It is known that there are several genetic causes of male infertility: chromosomal disruptions (Robertson translocations, structural changes in the karyotype, inversions); abnormal number of chromosomes (chromosomal disomy, development of Klinefelter syndrome); the appearance of fallen chromosomal sites (deletions) in the AZF locus of the Y chromosome; microdeletions and point mutations in the androgen receptor (AR) gene; abnormalities in the structure of sex chromosomes (local mutations) [3,4].…”