Background & Objective: Analysis of the microdeletions in the azoospermia factor (AZF) region of Y chromosome by PCR is an important screening tool in the work-up of infertile males opting for assisted reproductive techniques. In the present study, the Y chromosome microdeletions were analyzed by PCR using primers corresponding to 16 sequence tagged sites (STS) and three genes of the AZF region in infertile Indian men. Feasibility of developing a simplified multiplex PCR for screening of the Y chromosome microdeletions has been explored.
Methods: A total of 271 male subjects were analyzed, of which, 170 were infertile patients (51 oligospermic and 119 azoospermic) and 101 were fertile controls. Subjects showing normal karyotype only were included in the study. The semen analysis was done and plasma follicle stimulating hormone (FSH) concentrations were determined by radioimmunoassay. Testicular histopathology was analyzed by fine needle aspiration cytology (FNAC).
Results: Y chromosome microdeletions were observed in nine out of 170 (5.29%) infertile males all of whom were azoospermic. Of the nine subjects, two had deletions in AZFa, one in AZFb, three in AZFc and three in AZFb+c regions. No deletions were observed in the infertile severe oligospermic men (< 5 million sperm/ml semen) and fertile controls. No difference in the FSH concentrations of infertile patients with and without deletions (18.36 and 18.10 mIU/ml respectively) was observed. A clear relationship between Y chromosome microdeletions and testicular phenotypes could not be established. Two multiplex PCRs were designed using 7 STSs markers, which could detect Y chromosome microdeletions in infertile male subjects as efficiently as PCR based on larger number of PCR reactions.
Interpretation & Conclusion: The multiplex PCRs described in the present study may be a suitable, cost-effective and less time consuming method for screening the Y chromosome deletions in infertile males in routine clinical diagnosis and counselling prior to assisted reproduction.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Development of Speech and Communication in Polish Children with 22q11.2 Deletion Syndrome: A Cross-Sectional Study.
Brain Sci
December 2024
Faculty of Biomedical Engineering, Department of Medical Informatics and Aritificial Intelligence, Silesian University of Technology, Roosevelta 40, 41-800 Zabrze, Poland.
Background/objectives: 22q11.2 microdeletion syndrome (22q11DS) is a genetic disease caused by aberration of chromosome 22 that results in some phenotypic features and developmental disorders. This paper presents a cross-sectional study on speech and communication of Polish children with 22q11DS.
View Article and Find Full Text PDFA family with normal sperm motility carrying a sY86 deletion in AZFa region and partial deletion in AZFc region.
Front Genet
January 2025
The Affiliated Women's and Children's Hospital of Chengdu Medical College, Sichuan Provincial Woman's and Children's Hospital, Chengdu, China.
Introduction: Usually, patients with sY84 or sY86 deficiency present with azoospermia, but recent studies have shown that some males with partial AZFa deletions, including sY84 or sY86, exhibit normal fertility. Here, we reported a rare case of AZF deletion in a family, where both father and son exhibited a deletion at the sY86 site in the AZFa region and a partial deletion in the AZFc region.
Methods And Results: Detection was performed using classical multiplex polymerase chain reaction and the "Male AZF Full-region Detection" Panel, revealing specific deletions in AZFa: Yq11.
A 1.5 to 3 Mb microdeletion of chromosome 22q11.2 with loss of multiple genes including histone cell cycle regulator (HIRA) causes 22q11.
View Article and Find Full Text PDFMolecular cytogenetic study of the fetal genome in idiopathic recurrent pregnancy loss.
Int J Gynaecol Obstet
January 2025
Scientific Centre of Obstetrics, Gynecology and Perinatology, Almaty, Republic of Kazakhstan.
Objective: Despite numerous studies on the causes of recurrent pregnancy loss (RPL), nearly half of cases remain unidentified, which determines the research relevance. This study aims to investigate microchromosomal variations in the fetal genome associated with the development of idiopathic RPL.
Methods: The research was supported by the Centre for Molecular Medicine and the Research Institute of Obstetrics, Gynecology and Perinatology and conducted over a period of 2 years.
Identification of a cryptic unbalanced translocation Der(22)t(12;22)(q24.33;q13.33) in a large Chinese family with Phelan-McDermid syndrome by nanopore sequencing.
Sci Rep
January 2025
Reproductive Medicine Center, Jiangxi Maternal and Child Health Hospital, 318 Bayi Avenue, Nanchang, 330006, China.
To explore the genetic cause of a four-generation severe intellectual disability in a Chinese family using nanopore sequencing and to provide genetic counseling and reproductive guidance for family members. Multiple genetic analyses of the proband and family members were performed, including chromosome karyotype analysis, whole exome sequencing, nanopore sequencing, PCR amplification, and Sanger sequencing. The results of G-binding karyotyping, CGG repeats for FMR1, GGC repeats for NOTCH2NCL, and trio-whole-exome sequencing were negative for the proband and his parents.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!