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 Experiment Videos

Dinucleotide repeat polymorphism in the proteolipoprotein (PLP) gene

C Mimault1, F Cailloux, G Giraud

  • 1INSERM U384, Faculté de Médecine, Clermont-Ferrand, France.

Human Genetics
|August 1, 1995
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Presence of the mouse mammary-tumor virus (mmtv) pol gene in breast-cancer.

International journal of oncology·2011
Same author

Isolation of free and membrane-bound polysomes and mRNA highly active in translation and reverse transcription from small discrete regions of rat brain.

Neurochemistry international·2010
Same author

Role of tissue specific factors in the translation of brain messenger ribonucleic acids in vitro.

Neurochemistry international·2010
Same author

[Present possibilities and future development of clinical proteomics].

Annales de biologie clinique·2007
Same author

[Evaluation of rapid, semi-quantitative assay of C-reactive protein in whole blood, Actim CRP].

Annales de biologie clinique·2005
Same author

Functional characteristics of a reverse transcriptase encoded by an endogenous retrovirus from Drosophila melanogaster.

Insect biochemistry and molecular biology·2005

Researchers identified a common genetic marker in the proteolipid protein (PLP) gene. This finding aids in diagnosing X-linked neurologic disorders like Pelizaeus-Merzbacher Disease (PMD) and Spastic Paraplegia (SPG2).

Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • X-linked neurologic disorders, including Pelizaeus-Merzbacher Disease (PMD) and Spastic Paraplegia (SPG2), are characterized by central nervous system dysmyelination.
  • Accurate molecular diagnosis is crucial for understanding and managing these conditions.

Purpose of the Study:

  • To identify and characterize a genetic marker within the proteolipid protein (PLP) gene.
  • To assess the utility of this marker for molecular analysis in families affected by specific X-linked neurologic disorders.

Main Methods:

  • Analysis of a dinucleotide polymorphism located in the first intron of the proteolipid protein (PLP) gene.
  • Determination of heterozygosity frequency for the identified polymorphism.

Related Experiment Videos

Main Results:

  • A dinucleotide polymorphism was identified in the first intron of the PLP gene.
  • The polymorphism exhibits a high heterozygosity frequency of 0.69.

Conclusions:

  • The identified PLP gene polymorphism is a valuable tool for molecular analysis in families with X-linked dysmyelinating disorders.
  • This marker can aid in the diagnosis and genetic counseling for Pelizaeus-Merzbacher Disease (PMD) and X-linked Spastic Paraplegia (SPG2).