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

Rapid, efficient method for multiplex amplification from filter paper

M Caggana1, J M Conroy, K A Pass

  • 1Division of Genetic Disorders, New York State Department of Health, Albany 12201-0509, USA. caggana@wadsworth.org

Human Mutation
|May 26, 1998
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

Viewing the immune checkpoint VISTA: landscape and outcomes across cancers.

ESMO open·2024
Same author

Determining the Tsallis parameter via maximum entropy.

Physical review. E, Statistical, nonlinear, and soft matter physics·2015
Same author

Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines.

Molecular genetics and metabolism·2015
Same author

Evolution of an influenza pandemic in 13 countries from 5 continents monitored by protein microarray from neonatal screening bloodspots.

Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology·2014
Same author

Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards.

Molecular genetics and metabolism·2011
Same author

Newborn screening for Tyr-I: two years' experience of the New York State program.

Molecular genetics and metabolism·2011
Same journal

RETRACTION: "Differential Effects of AKT1(p.E17K) Expression on Human Mammary Luminal Epithelial and Myoepithelial Cells".

Human mutation·2026
Same journal

Diagnostic Yield of Genome Sequencing in an Iranian Exome-Negative Autosomal-Recessive Intellectual Disability Cohort.

Human mutation·2026
Same journal

Exploring the Functional Impact of Individual <i>DDX41</i> Variants With a Fast and Robust Cell-Based Method.

Human mutation·2026
Same journal

Modeling the Effects of Single Nucleotide Polymorphisms (SNPs) on the Structure and Function of the Human <i>RET</i> Gene: An In Silico Study.

Human mutation·2026
Same journal

Driver Mutation Subtypes Differentially Shape Immune Evasion Landscapes in Melanoma: An AI-Driven Inflammatory Pathway Model Implicating CCNE1.

Human mutation·2026
Same journal

Comment on "When the Outcome Contains the Exposure: Methodological Limits of a Genome-Wide Cross-Trait Analysis of Type 2 Diabetes and MASLD".

Human mutation·2026
See all related articles

This study presents a rapid, cost-effective method using Guthrie cards for multiplex gene amplification to detect public health mutations. The technique is automation-friendly and expands newborn screening capabilities for genetic diagnoses.

Area of Science:

  • Genetics
  • Molecular Biology
  • Public Health

Background:

  • Newborn screening programs are crucial for early detection of genetic disorders.
  • Current methods may have limitations in detecting a wide range of mutations efficiently.
  • Anonymous Guthrie card specimens offer a unique resource for developing new diagnostic assays.

Purpose of the Study:

  • To develop a rapid, economical method for amplifying multiple genes from Guthrie cards.
  • To enable the detection of mutations impacting public health.
  • To enhance the utility of existing newborn screening programs.

Main Methods:

  • Utilized anonymous Guthrie cards from the New York State Newborn Screening Program.
  • Developed a method for multiplex gene amplification from a 1 mm blood spot punch.

Related Experiment Videos

  • Assayed DNA from whole blood and lymphoblastoid cell lines.

    • Main Results:

    • Successfully amplified multiple gene fragments (at least four per reaction) from a single blood spot.
    • The method requires minimal sample manipulation and is amenable to automation.
    • Sufficient material remains for numerous amplification reactions, allowing for expanded diagnostic capabilities.

    Conclusions:

    • This cost-effective multiplex amplification method significantly enhances newborn screening by enabling DNA-based diagnosis of genetic disorders.
    • The assay is adaptable for various sample types, including adult blood and cell lines, and is ideal for population studies.
    • The technique offers a scalable solution for laboratories processing large sample volumes, improving diagnostic yield and public health outcomes.