Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Human Genetics01:28

Human Genetics

1.5K
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
1.5K
Lumber Defects01:23

Lumber Defects

490
Lumber defects, which can affect both the appearance and structural integrity of wood, include a variety of growth and manufacturing flaws. Growth defects such as knots and knotholes occur where branches were once attached to the tree trunk, with knotholes forming when these knots fall out. Other natural defects include decay and insect damage, which compromise the wood's strength and durability.
Shakes are minor fractures that run along or across the wood's annual rings, while wane is...
490
Genetics of Speciation02:16

Genetics of Speciation

21.0K
Speciation is the evolutionary process resulting in the formation of new, distinct species—groups of reproductively isolated populations.
21.0K
What is Population Genetics?01:25

What is Population Genetics?

64.5K
A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
64.5K
What is Genetic Engineering?00:49

What is Genetic Engineering?

79.9K
Overview
79.9K
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

9.0K
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
9.0K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Male reproductive phenotype in cystic fibrosis: comparison of existing animal models.

Lab animal·2026
Same author

Transplacental transfer of osimertinib and alectinib using an ex vivo human placental perfusion model.

Placenta·2026
Same author

Supporting-like cells constitute an alternative steroidogenic lineage conserved in amniotes.

bioRxiv : the preprint server for biology·2026
Same author

Polymorphism and pelvic organ prolapse: combining strict inclusion criteria and environmental risk factors as a good standard for further studies.

Gynecology and pelvic medicine·2026
Same author

Implications of Structural Disorder for the Electrocatalytic Properties of MoS<sub>2</sub> Materials.

Journal of the American Chemical Society·2026
Same author

The Ovine Brain as a Model for Human Neurodevelopment: Immunohistochemical Profiling of Brain Maturation Markers in Preterm Lambs.

The Journal of comparative neurology·2026

Related Experiment Video

Updated: Jan 25, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.3K

Genetic defects in human azoospermia.

Farah Ghieh1, Valérie Mitchell2,3, Béatrice Mandon-Pepin4

  • 11EA7404-GIG, UFR des Sciences de la Santé Simone Veil, UVSQ, Montigny le Bretonneux, France.

Basic and Clinical Andrology
|April 27, 2019
PubMed
Summary
This summary is machine-generated.

Genetic testing for male infertility (azoospermia) has evolved from chromosome analysis to advanced genomic techniques. This review details genetic defects linked to azoospermia, offering clinical guidelines for diagnosis and management.

Keywords:
AzoospermiaChromosomeEpigeneticsGenetic defectsMutationsPolymorphisms

More Related Videos

Vessel-Sparing Microsurgical Longitudinal Intussusception Vasoepididymostomy to Treat Epididymal Obstructive Azoospermia
06:28

Vessel-Sparing Microsurgical Longitudinal Intussusception Vasoepididymostomy to Treat Epididymal Obstructive Azoospermia

Published on: May 27, 2022

4.3K
Genetic Studies of Human DNA Repair Proteins Using Yeast as a Model System
14:09

Genetic Studies of Human DNA Repair Proteins Using Yeast as a Model System

Published on: March 18, 2010

18.5K

Related Experiment Videos

Last Updated: Jan 25, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.3K
Vessel-Sparing Microsurgical Longitudinal Intussusception Vasoepididymostomy to Treat Epididymal Obstructive Azoospermia
06:28

Vessel-Sparing Microsurgical Longitudinal Intussusception Vasoepididymostomy to Treat Epididymal Obstructive Azoospermia

Published on: May 27, 2022

4.3K
Genetic Studies of Human DNA Repair Proteins Using Yeast as a Model System
14:09

Genetic Studies of Human DNA Repair Proteins Using Yeast as a Model System

Published on: March 18, 2010

18.5K

Area of Science:

  • Genetics
  • Reproductive Medicine
  • Molecular Biology

Background:

  • Genetic testing for human azoospermia has progressed significantly from karyotyping to molecular analyses.
  • Early genetic screening focused on Y chromosome microdeletions and the CFTR gene.
  • Recent advancements in whole-genome techniques have identified additional genetic causes of azoospermia.

Purpose of the Study:

  • To provide an updated overview of genetic defects associated with human azoospermia.
  • To offer clinical practice guidelines based on azoospermia phenotype.
  • To discuss homozygous mutations, polymorphisms, and epigenetic defects in azoospermia.

Main Methods:

  • Review of literature on genetic defects in human azoospermia.
  • Analysis of historical and current genetic testing methodologies.
  • Correlation of genetic findings with azoospermia phenotypes.

Main Results:

  • Identification of various genetic defects, including Y chromosome microdeletions and CFTR gene mutations.
  • Emergence of whole-genome techniques revealing new causal genes like TEX11 and ADGRG2.
  • Many identified causal gene defects are private, found in limited consanguineous families.

Conclusions:

  • Genetic defects are crucial in the etiology of human azoospermia.
  • Clinical guidelines are proposed based on genetic findings and azoospermia phenotype.
  • Further research is needed for genetic variations predisposing to azoospermia.