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

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

19.8K
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,...
19.8K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

16.6K
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...
16.6K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

19.2K
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%...
19.2K

You might also read

Related Articles

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

Sort by
Same author

Gold nanoparticle and carbon dot coated SnO2 nanocomposite with high photo-electronic catalytic activity for oxygen evolution reaction.

Dalton transactions (Cambridge, England : 2003)·2015
Same author

Biased signaling in naturally occurring mutations in human melanocortin-3 receptor gene.

International journal of biological sciences·2015
Same author

Improved Biofilm Antimicrobial Activity of Polyethylene Glycol Conjugated Tobramycin Compared to Tobramycin in Pseudomonas aeruginosa Biofilms.

Molecular pharmaceutics·2015
Same author

Preconditioning of model biocarriers by soluble pollutants: a QCM-D study.

ACS applied materials & interfaces·2015
Same author

Influence of mother-daughter attachment on substance use: a longitudinal study of a Latina community-based sample.

Journal of studies on alcohol and drugs·2015
Same author

STAT4 rs7574865 G/T and PTPN22 rs2488457 G/C polymorphisms influence the risk of developing juvenile idiopathic arthritis in Han Chinese patients.

PloS one·2015

Related Experiment Video

Updated: Mar 29, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

9.2K

Candidate single-nucleotide polymorphisms and cerebral palsy: A case-control study.

Xiao-Guang He1, Q I Peng1, Yan-Hua Chen2

  • 1Department of Pediatrics, Dongguan Children's Hospital, Dongguan, Guangdong 523325, P.R. China ; Dongguan Institute of Pediatrics, Dongguan, Guangdong 523325, P.R. China.

Biomedical Reports
|December 2, 2015
PubMed
Summary

Genetic variants in adrenergic receptor beta-2 (ADRB2) are linked to cerebral palsy risk in preterm infants. This study found no overall genetic association for cerebral palsy in the general infant population.

Keywords:
candidate genecase-controlcerebral palsysingle-nucleotide polymorphism association

More Related Videos

Enhancing the Development and Growth of Infant Cerebral Palsy Rats Using Selective Spinal Manipulations
05:04

Enhancing the Development and Growth of Infant Cerebral Palsy Rats Using Selective Spinal Manipulations

Published on: February 2, 2024

1.1K
Event-related Potentials During Target-response Tasks to Study Cognitive Processes of Upper Limb Use in Children with Unilateral Cerebral Palsy
08:26

Event-related Potentials During Target-response Tasks to Study Cognitive Processes of Upper Limb Use in Children with Unilateral Cerebral Palsy

Published on: January 11, 2016

12.7K

Related Experiment Videos

Last Updated: Mar 29, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

9.2K
Enhancing the Development and Growth of Infant Cerebral Palsy Rats Using Selective Spinal Manipulations
05:04

Enhancing the Development and Growth of Infant Cerebral Palsy Rats Using Selective Spinal Manipulations

Published on: February 2, 2024

1.1K
Event-related Potentials During Target-response Tasks to Study Cognitive Processes of Upper Limb Use in Children with Unilateral Cerebral Palsy
08:26

Event-related Potentials During Target-response Tasks to Study Cognitive Processes of Upper Limb Use in Children with Unilateral Cerebral Palsy

Published on: January 11, 2016

12.7K

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Genetic polymorphisms are implicated in cerebral palsy (CP) pathogenesis, particularly genes related to thrombophilia, inflammation, and preterm labor.
  • The precise genetic mechanisms underlying CP remain incompletely understood.

Purpose of the Study:

  • To investigate the association between specific single-nucleotide polymorphisms (SNPs) and the risk of cerebral palsy in infants.
  • To analyze these associations in the overall CP population and in subgroups based on gestational age.

Main Methods:

  • A case-control study design was employed.
  • Included 74 infants diagnosed with cerebral palsy (case group) and 99 healthy infants (control group).
  • Examined allele and genotype frequencies for eight selected SNPs, including in preterm and full-term subgroups.

Main Results:

  • The rs1042714 variant within the adrenergic receptor beta-2 (ADRB2) gene and ADRB2 heterozygosity showed a significant association with cerebral palsy risk specifically in preterm infants.
  • No significant differences in allele or genotype frequencies were found between the overall cerebral palsy patient group and controls for any of the eight investigated SNPs.

Conclusions:

  • Specific genetic variations in ADRB2 may contribute to cerebral palsy risk in preterm infants.
  • The investigated SNPs do not appear to be associated with cerebral palsy in the general infant population.