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

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

954
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
954
Sex-linked Disorders01:43

Sex-linked Disorders

109.8K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
109.8K
Infertility in Males01:23

Infertility in Males

624
Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...
624
Mutations01:39

Mutations

95.1K
Overview
95.1K
The Y Chromosome Determines Maleness02:19

The Y Chromosome Determines Maleness

8.6K
The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
8.6K
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

53
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
53

You might also read

Related Articles

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

Sort by
Same author

Harnessing tumor-associated exosomal aminopeptidase N as a dual-function tool for monitoring and tackling chemoresistance in gastric cancer.

Cell communication and signaling : CCS·2026
Same author

A Hybrid Ensemble System for Time-Series Anomaly Detection in Automated Quality Control of Medical Equipment.

Diagnostics (Basel, Switzerland)·2026
Same author

NKD1 promotes the progression and 5-FU resistance of colorectal cancer via the Wnt/β-catenin signaling.

Cell death & disease·2026
Same author

Variants in ZZS Complex-Associated Genes TEX11 and M1AP Are Responsible for Male Infertility and Nonobstructive Azoospermia.

Andrology·2026
Same author

Age-Related Dynamics of Typical Bioessential Elements in Mouse Sperm at Single-Cell Resolution.

Analytical chemistry·2026
Same author

HucMSC-mediated stromal metabolic reprogramming in reactivating aged ovaries: a single-cell transcriptomic perspective.

Cellular & molecular biology letters·2026

Related Experiment Video

Updated: Mar 3, 2026

Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients
07:04

Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients

Published on: February 11, 2017

20.2K

CFTR gene mutations and polymorphism are associated with non-obstructive azoospermia: From case-control study.

Lingying Jiang1, Jiamin Jin1, Shasha Wang1

  • 1Department of Gynecology and Obstetrics, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, No.3 Qingchun East Road, Jianggan District, Hangzhou, 310016, China.

Gene
|May 1, 2017
PubMed
Summary

The cystic fibrosis transmembrane conductance regulator (CFTR) T5 allele and TG12-T5-V470 genotype are linked to non-obstructive azoospermia (NOA) risk. Common CFTR mutations F508del and R117H showed no association with NOA in this study.

Keywords:
F508delIVS8 poly-TM470VNon-obstructive azoospermiaR117HTG repeats

More Related Videos

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

8.5K
Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization
11:08

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization

Published on: April 7, 2023

1.5K

Related Experiment Videos

Last Updated: Mar 3, 2026

Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients
07:04

Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients

Published on: February 11, 2017

20.2K
A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

8.5K
Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization
11:08

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization

Published on: April 7, 2023

1.5K

Area of Science:

  • Genetics
  • Reproductive Biology
  • Molecular Medicine

Background:

  • The cystic fibrosis transmembrane conductance regulator (CFTR) protein is implicated in spermatogenesis.
  • The specific role of CFTR gene mutations in non-obstructive azoospermia (NOA) remains unclear.

Purpose of the Study:

  • To investigate the association between CFTR gene mutations and NOA.
  • To identify common CFTR mutations and polymorphisms in NOA patients.

Main Methods:

  • A systematic review of PubMed and Embase databases (pre-May 2016) identified common CFTR mutations.
  • A case-control study (100 NOA patients, 100 fertile controls) analyzed CFTR gene mutations (IVS8 poly-T, TG repeats, F508del, R117H, M470V) via PCR and direct sequencing.
  • Haplotype analysis was performed on identified CFTR variants.

Main Results:

  • The T5 allele of CFTR was significantly more frequent in NOA patients (5.00%) than controls (0.00%), increasing NOA risk (OR 2.05).
  • The T5 allele was consistently associated with TG12 repeats, forming the TG12T5 haplotype.
  • The TG12T5-V470 haplotype also elevated NOA risk (OR 2.04); F508del and R117H mutations were not detected in either group.

Conclusions:

  • Polyvariant CFTR mutations, specifically the T5 allele and the TG12-T5-V470 genotype, are correlated with an increased risk of non-obstructive azoospermia.
  • The common CFTR mutations F508del and R117H appear to have a low probability of association with NOA.