[A cytogenetic and molecular genetic study on microdeletion of AZF region on Y chromosome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi

Laboratory of Genetics, Reproductive Medical Center, Shenzhen Hospital of Beijing University, Shenzhen, Gungdong, 518036 PR China.

Published: June 2004

Objective: To study the morphology of Y chromosome and microdeletion of the correlated specific azoospermia factor(AZF) region on Y chromosome in cases of azoospermia and to identify the genetic diagnosis made for male infertility patients.

Methods: Peripheral blood samples were taken from two patients with azoospermia, and then were examined by use of G banding, C banding cytogenetic analysis and multiplex polymerase chain reaction (PCR) microdeletion analysis.

Results: The karyotypes of the two cases were 45, X, -Y, -22, +der(Y)t(Y;22)(q11.2;q11.2) and 46, XY, del(Y)(q11.2) respectively. In 12 sequence-tagged sites(STS) of AZFa, AZFb, AZFd, AZFc, only one was detected in the first case and two were detected in the other case.

Conclusion: The cytogenetic analysis and the detection of AZF microdeletion on Y chromosome are essential to the final genetic diagnosis to be made for male infertility patients.

Download full-text PDF

Source

Publication Analysis

Top Keywords

genetic diagnosis
8
diagnosis male
8
male infertility
8
cytogenetic analysis
8
cytogenetic molecular
4
molecular genetic
4
genetic study
4
microdeletion
4
study microdeletion
4
microdeletion azf
4

Similar Publications

Long-term epidemiological trends in (primary) pediatric central nervous system tumors: a 25-year cohort analysis in Western Mexico.

Childs Nerv Syst

January 2025

Ph.D. Human Genetics Program, Molecular Biology and Genomics Department, Human Genetics Institute "Dr. Enrique Corona-Rivera", University Center of Health Sciences, University of Guadalajara, Guadalajara, Mexico.

Background: Central nervous system tumors (CNSTs) represent a significant oncological challenge in pediatric populations, particularly in developing regions where access to diagnostic and therapeutic resources is limited.

Methods: This research investigates the epidemiology, histological classifications, and survival outcomes of CNST in a cohort of pediatric patients aged 0 to 19 years within a 25-year retrospective study at the Civil Hospital of Guadalajara, Mexico, from 1999 to 2024.

Results: Data was analyzed from 273 patients who met inclusion criteria, revealing a higher incidence in males (51.

View Article and Find Full Text PDF

Are there atypical sites of IgG4 related disease in head and neck region? Personal experience and literature review.

Eur Arch Otorhinolaryngol

January 2025

Department of Otolaryngology and Head and Neck Surgery, IRCSS AOU San Martino, University of Genoa, Largo Rosanna Benzi 10, 16132, Genoa, Italy.

Purpose: Immunoglobulin G4-related disease (IgG4-RD) is a complex systemic fibroinflammatory condition with different clinical manifestations affecting multiple organ systems. Despite its rarity, the disease presents diagnostic and therapeutic challenges due to its mimicry of malignancies and other immune-mediated disorders. The 2019 American College of Rheumatology/European League Against Rheumatism Classification Criteria for IgG4-Related Disease is the current state of art to confirm the diagnosis of IgG4-RD even in the absence of histological analysis.

View Article and Find Full Text PDF

Unraveling the potential mechanism and prognostic value of pentose phosphate pathway in hepatocellular carcinoma: a comprehensive analysis integrating bulk transcriptomics and single-cell sequencing data.

Funct Integr Genomics

January 2025

Institute of Infectious Diseases, Guangdong Province, Guangzhou Eighth People's Hospital, Guangzhou Medical University, 8 Huaying Road, Baiyun District, Guangzhou, 510440, China.

Hepatocellular carcinoma (HCC) remains a malignant and life-threatening tumor with an extremely poor prognosis, posing a significant global health challenge. Despite the continuous emergence of novel therapeutic agents, patients exhibit substantial heterogeneity in their responses to anti-tumor drugs and overall prognosis. The pentose phosphate pathway (PPP) is highly activated in various tumor cells and plays a pivotal role in tumor metabolic reprogramming.

View Article and Find Full Text PDF

Phenomic selection based on parental spectra can be used to predict GCA and SCA in a sparse factorial design. Prediction approaches such as genomic selection can be game changers in hybrid breeding. They allow predicting the genetic values of hybrids without the need for their physical production.

View Article and Find Full Text PDF

A complete set of monosomic alien addition lines of Radish-Brassica oleracea exhibiting extensive variations was generated and well characterized for their chromosome behaviors and phenotypic characteristics. Monosomic alien addition lines (MAALs) are developed through interspecific hybridization, where an alien chromosome from a relative species is introduced into the genome of the recipient plant, serving as valuable genetic resources. In this study, an allotetraploid Raphanobrassica (RRCC, 2n = 36) was created from the interspecific hybridization between radish (Raphanus sativus, RR, 2n = 18) and Brassica oleracea (CC, 2n = 18).

View Article and Find Full Text PDF

Want 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!