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

Incomplete Dominance01:43

Incomplete Dominance

28.2K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
28.2K
Pleiotropy01:33

Pleiotropy

41.8K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
41.8K
Genetic Lingo01:11

Genetic Lingo

108.5K
Overview
108.5K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

14.8K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
14.8K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

18.2K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
18.2K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

17.1K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
17.1K

You might also read

Related Articles

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

Sort by
Same author

Complimentary Episignature Testing for Variant Reclassification: Case Reports with Variant Classification Guideline Consideration.

Molecular syndromology·2026
Same author

Long-Term Outcomes of Enzyme Replacement Therapy in Indian Patients with Gaucher Disease - A Multicentric Study.

Indian journal of pediatrics·2026
Same author

Uniparental Disomy: A Scoping Review of Diagnostic Challenges, Clinical Spectrum, and Counselling Implications.

Current pediatric reviews·2026
Same author

Novel Homozygous Exonic Deletion of the TMEM17 Gene Associated With Meckel-Gruber Syndrome Phenotype.

American journal of medical genetics. Part A·2026
Same author

Tobacco-specific nitrosamine '4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK)': toxicological mechanisms, carcinogenicity, and chemopreventive approaches.

Toxicology mechanisms and methods·2026
Same author

Fusarium oxysporum induced pathogenesis in ginger (Zingiber officinale) associated with oxidative stress responses, antioxidant defense mechanisms and mycotoxin profiling.

Scientific reports·2026

Related Experiment Video

Updated: Oct 29, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.9K

Single gene variants causing deafness in Asian Indians.

Inusha Panigrahi1, Divya Kumari, B N Anil Kumar

  • 1Genetic Metabolic Unit, Department of Pediatrics, APC, Post Graduate Institute of Medical Education and Research, Chandigarh 160 012, India. inupan@yahoo.com.

Journal of Genetics
|July 9, 2021
PubMed
Summary

Genetic variants in genes like GJB2 cause congenital deafness, a common hereditary disorder. This study identified novel pathogenic variants in multiple deafness genes, enabling potential prenatal diagnosis for affected families.

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.2K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.1K

Related Experiment Videos

Last Updated: Oct 29, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.9K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.2K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.1K

Area of Science:

  • Genetics
  • Otolaryngology
  • Medical Diagnostics

Background:

  • Congenital deafness affects 1 in 1000 children, with 50% being hereditary.
  • The GJB2 gene is a major cause of non-syndromic recessive deafness globally, varying by population.
  • Understanding genetic causes is crucial for diagnosis and management of hearing loss.

Purpose of the Study:

  • To identify genetic variants associated with congenital deafness in the studied population.
  • To investigate the role of specific genes, including GJB2, in hereditary hearing loss.
  • To explore the potential for prenatal diagnosis in families with severe prelingual deafness.

Main Methods:

  • DNA extraction from blood samples.
  • Targeted gene capture using a custom kit.
  • Next-generation sequencing (NGS) of multiple deafness-related genes with high coverage (>80-100x).

Main Results:

  • Identified variants in several genes: GJB2, WFS1, FGF3, EYA4, MYO7A, and CHD7.
  • A significant proportion of the identified variants were novel and pathogenic.
  • Autosomal recessive genes may play a role in severe, early-onset deafness.

Conclusions:

  • Novel pathogenic variants in multiple genes contribute to congenital deafness.
  • Genetic testing can identify causative mutations for hereditary hearing loss.
  • Prenatal diagnosis is feasible for families with severe prelingual deafness.