AZF deletions are genomic deletions in the euchromatic part of the long arm of the human Y chromosome (Yq11) associated with azoospermia or severe oligozoospermia. Consequently, it can be assumed that these deletions remove Y chromosomal genes required for spermatogenesis. However, these 'classical' or 'complete' AZF deletions, AZFa, AZFb and AZFc, represent only a subset of rearrangements in Y...

Background: Microdeletions of the long arm of the chromosome Y are the most common molecular genetic cause of severe infertility in men which affect three regions of AZFa, AZFb and AZFc (Azoospermia factor). These regions contain various genes involved in spermatogenesis. The effect of ethnicity on the patterns of Y chromosome microdeletions has not been extensively studied, particulary in Iran...

Genetic factors cause about 15% of male infertility and microdeletions of Y chromosome is one of the genetic causes in idiopathic infertile men. Azoospermia factors (AZFa, AZFb, and AZFc) on Yq long arm are most important for spermatogenesis. For analysis of microdeletions in the AZF regions by sequence-tagged-site (STS) PCR is important screening method for infertility. An attempt has been mad...

Để nhận biết các đặc điểm lâm sàng, cận sàng và xác định bất thường di truyền liên quan đến tình trạng OAT, chúng tôi tiến hành nghiên cứu trên 253 bệnh nhân nam vô sinh mắc hội chứng OAT. Kết quả cho thấy tuổi trung bình của trong là 29,3 ± 6,04 tuổi. Tiền sử viêm tinh hoàn do quai bị, giãn tĩnh mạch chiếm tỉ lệ khá cao, lần lượt 12,65% 23,32%. Nồng độ hormon FSH, LH, Testosterone huyết thanh ...

Deletion of the AZFc region of the Y chromosome is the most frequent molecularly defined cause of spermatogenic failure. We report three unrelated men in whom azoospermia or severe oligozoospermia was caused by de-novo AZFc deletions, and who produced sons by intracytoplasmic sperm injection (ICSI). We employed polymerase chain reaction (PCR) assays to examine the Y chromosomes of their four in...

Microdeletions in Yq are associated with defects in spermatogenesis, while those in the AZF region are considered critical for germ cell development. We examined microdeletions in the Y chromosomes of patients attended at the Laboratory of Human Reproduction of the Clinical Hospital of the Federal University of Goiás as part of a screening of patients who plan to undergo assisted reproduction. ...

Y chromosome microdeletions can cause male infertility and are classified as natural transmission and de novo mutations. To examine the source of these deletions in Chinese men and to provide a theoretical and laboratory basis for genetic counseling, patients from Northeast China with primary male infertility (N = 22) and their fathers were investigated. Karyotype analysis was performed on peri...

Microdeletions of the azoospermia factor (AZF) regions in the Y chromosome are a well-known genetic cause of male infertility, resulting in impairment of spermatogenesis. However, the partial deletions of AZFc region related to spermatogenetic impairment are controversial. We investigated partial deletion of AZFc region and DAZ copy number in a population of Iranian infertile men and normozoosp...

AZFc deletions cause a significant phenotypic heterogeneity with respect to spermatogenesis; however, the reason for this is poorly understood. Recently, testis-specific protein Y-encoded 1 (TSPY1) copy number variation (CNV) was determined to be a potential genetic modifier of spermatogenesis. We performed a large-scale cohort study to investigate the effect of TSPY1 CNV on spermatogenesis and...