نتایج جستجو برای: azfa
تعداد نتایج: 158 فیلتر نتایج به سال:
In a large collaborative screening project, 370 men with idiopathic azoospermia or severe oligozoospermia were analysed for deletions of 76 DNA loci in Yq11. In 12 individuals, we observed de novo microdeletions involving several DNA loci, while an additional patient had an inherited deletion. They were mapped to three different subregions in Yq11. One subregion coincides to the AZF region defi...
UNLABELLED Recent advances in DNA technology have revolutionized forensic identification procedures. Teeth dentin and pulp are rich sources of DNA material, which can be successfully extracted and it provides us with valuable information on individuals, systemic health including fertility status. AIM OF STUDY The aim of this study was to use DNA material extracted from human teeth pulp for de...
Gene conversion between paralogs can alter their patterns of sequence identity, thus obscuring their evolutionary relationships and affecting their propensity to sponsor genomic rearrangements. The details of this important process are poorly understood in the human genome because allelic diversity complicates the interpretation of interparalog sequence differences. Here we exploit the haploid ...
XX maleness is a rare syndrome with a frequency of 1 in 20,000-25,000 males. XX males exist in different clinical categories with ambiguous genitalia or partially to fully mature male genitalia, in combination with complete or incomplete masculinization. In this study, we report a case of SRY-negative XX male with complete masculinization but infertility. The patient had fully mature male genit...
A 15-year-old boy was referred due to gynecomastia and short stature. He was overweight and showed the knuckle-dimple sign on the left hand, a short fourth toe on the left foot, and male external genitalia with a small phallus. His levels of estradiol and follicle-stimulating hormone were increased, and his testosterone concentration was normal. Other hormonal tests were within the normal range...
Recent studies have shown Y chromosome microdeletions associated with male infertility. The factors responsible for Y chromosome microdeletions in spermatozoa remain unresolved. However, the environmental pollutants are known to damage DNA in differentiating and maturing germ cells in the male reproductive tract. Therefore, the aim of this study was to investigate the effects of seminal hexachl...
The Y chromosome carries several genes involved in spermatogenesis, which are distributed in three regions in the euchromatic part of the long arm, called AZFa (azoospermia factor a), AZFb, and AZFc. Microdeletions in these regions have been seen in 10-15% of sterile males with azoospermia or severe oligozoospermia. The relatively high de novo occurrence of these microdeletion events might be d...
AIM To illustrate the importance of genetic screening in the assessment of fertility and the correct diagnosis in patients with azoospermia or severe oligospermia. MATERIALS AND METHODS This study examined 500 patients with reproductive failure, having fewer than 5 million sperm/mL detected in at least 2 consecutive spermiograms, who presented at a medical genetics polyclinic between 2008 and...
We determined the prevalence of Y chromosome deletions in a population of 60 Brazilian nonobstructive azoospermic and severely oligozoospermic men. PCR-based screening of microdeletions was performed on lymphocyte DNA for the presence of 14 sequence-tagged sites (STS) located in the azoospermic factor (AZF) on the Yq chromosome. All STS were amplified efficiently in samples from 12 fertile men ...
BACKGROUND In some cases infertile men showed small deletions of specific genes in the Y chromosome. It had been confirmed, these deleted genes are greatly associated with spermatogenic failure. However, the frequency and the patterns of such microdeletions among infertile men are not clearly clarified. OBJECTIVE We sought to determine the frequency and the patterns of Y chromosome microdelet...
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