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

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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,...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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%...

You might also read

Related Articles

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

Sort by
Same author

Defining neonatal encephalopathy: an international real-time Delphi consensus process.

The Lancet. Child & adolescent health·2026
Same author

High folic acid supplementation is associated with vaginal bleeding in early pregnancy in a fetal sex-specific manner: findings from two prospective cohort studies.

Reproductive health·2026
Same author

Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohorts.

EBioMedicine·2026
Same author

The association between breastfeeding and prevalence of metabolic syndrome in women with a previous major pregnancy complication.

Frontiers in global women's health·2026
Same author

Systematic review of terminology, definitions, and eligibility criteria in trials of neonatal encephalopathy, hypoxic-ischemic encephalopathy, and perinatal asphyxia.

Pediatric research·2026
Same author

Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.

EBioMedicine·2025

Related Experiment Video

Updated: Jul 17, 2026

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats
07:36

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats

Published on: November 20, 2015

Genetic polymorphisms and spontaneous preterm birth.

Catherine S Gibson1, Alastair H MacLennan, Gustaaf A Dekker

  • 1School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, Australia.

Obstetrics and Gynecology
|February 3, 2007
PubMed
Summary

Genetic variants in newborns are linked to spontaneous preterm birth, with specific genes identified in infants with and without cerebral palsy. These findings may help predict and prevent premature births.

More Related Videos

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Related Experiment Videos

Last Updated: Jul 17, 2026

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats
07:36

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats

Published on: November 20, 2015

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Area of Science:

  • Genetics and Perinatal Medicine
  • Molecular Biology and Obstetrics

Background:

  • Spontaneous preterm birth is a major concern in infant health.
  • Cerebral palsy is a significant neurological condition in children.
  • Understanding genetic predispositions to preterm birth is crucial for prevention.

Purpose of the Study:

  • To investigate the association between infant genetic polymorphisms and spontaneous preterm birth.
  • To explore these associations in infants with and without cerebral palsy.

Main Methods:

  • An exploratory case-control study analyzed 31 single nucleotide polymorphisms from newborn bloodspots.
  • Data from 443 children with cerebral palsy and 549 control infants born in South Australia (1986-1999) were used.
  • Genotyping was performed using Taqman assays to examine gene variants.

Main Results:

  • In infants without cerebral palsy, preterm birth was associated with variants in ADRB2, NOS2A, and thrombomodulin genes.
  • In infants with cerebral palsy, preterm birth linked to polymorphisms in eNOS, plasminogen activator inhibitor-2, and ADD1 genes.

Conclusions:

  • Confirms associations between beta-adrenergic receptor and nitric oxide synthase gene variants with prematurity.
  • Suggests that genetic variants in plasminogen activator inhibitor-2, thrombomodulin, and alpha adducin may contribute to spontaneous preterm birth risk.