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

Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

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...

You might also read

Related Articles

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

Sort by
Same author

Lessons learnt from a genetic disease registry in Hong Kong.

Hong Kong medical journal = Xianggang yi xue za zhi·2021
Same author

DNA sequence patterns in human major histocompatibility complex region in southern Chinese.

Hong Kong medical journal = Xianggang yi xue za zhi·2019
Same author

Novel structural co-expression analysis linking the NPM1-associated ribosomal biogenesis network to chronic myelogenous leukemia.

Scientific reports·2015
Same author

Coexpression Pattern Analysis of NPM1-Associated Genes in Chronic Myelogenous Leukemia.

BioMed research international·2015
Same author

Autophagic adaptation is associated with exercise-induced fibre-type shifting in skeletal muscle.

Acta physiologica (Oxford, England)·2015
Same author

Gene network exploration of crosstalk between apoptosis and autophagy in chronic myelogenous leukemia.

BioMed research international·2015

Related Experiment Video

Updated: Jul 27, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

Identification and characterisation of polymorphisms in human phosphoglucomutase (PGM1).

S P Yip1, W Putt, D A Hopkinson

  • 1MRC Human Biochemical Genetics Unit, Galton Laboratory, University College London, U.K.

Annals of Human Genetics
|March 30, 2000
PubMed
Summary

Researchers mapped genetic variation in the human phosphoglucomutase (PGM1) gene using single nucleotide polymorphism (SNP) screening. This study identified common and rare alleles, aiding in understanding human genetic diversity.

More Related Videos

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
06:21

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

Published on: May 10, 2024

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

Related Experiment Videos

Last Updated: Jul 27, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
06:21

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

Published on: May 10, 2024

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

Area of Science:

  • Human Genetics
  • Molecular Biology
  • Population Genetics

Background:

  • The human phosphoglucomutase (PGM1) gene plays a crucial role in cellular metabolism.
  • Understanding genetic variation within the PGM1 gene is essential for population genetics studies and disease association.
  • Previous studies have identified some polymorphic sites, but a comprehensive map was lacking.

Purpose of the Study:

  • To map recombination hotspots and identify novel polymorphic sites within specific regions of the human PGM1 gene.
  • To characterize the allelic diversity of these new markers across diverse human populations.
  • To assess the efficiency of single-stranded conformation polymorphism (SSCP) analysis for SNP discovery in the PGM1 gene.

Main Methods:

  • Screening of 22 PCR-amplified fragments (5.2 kb total) for single nucleotide polymorphisms (SNPs) using non-isotopic single-stranded conformation polymorphism (SSCP) analysis.
  • Allelic association analysis with known PGM1 isozyme polymorphisms to guide marker selection.
  • Typing of seven polymorphic markers in Caucasian, Chinese, Vietnamese, and New Guinean populations, followed by direct sequencing and family studies for inheritance patterns.

Main Results:

  • Identified 14 variable fragments, with seven showing common polymorphism, including SNPs and two insertion/deletion mutations.
  • Characterized 2-4 common alleles and several rare alleles for each marker across the four populations studied.
  • Demonstrated co-dominant inheritance patterns through family studies and confirmed high efficiency of SSCP for SNP detection.

Conclusions:

  • Successfully mapped novel polymorphic sites in the human PGM1 gene, expanding the available genetic markers.
  • Provided insights into the allelic diversity and population structure related to the PGM1 gene.
  • Validated SSCP as an efficient method for high-throughput SNP screening in large genomic regions.