Detection of multiallele polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis

Val C Sheffield; John S Beck; Brian Nichols; Anthony Cousineau; Andrew  Lidral; Edwin M Stone

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Detection of multiallele polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis

Journal article

Peer reviewed

Detection of multiallele polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis

Val C Sheffield, John S Beck, Brian Nichols, Anthony Cousineau, Andrew Lidral and Edwin M Stone

American journal of human genetics, Vol.50(3), pp.567-575

03/1992

PMCID: PMC1684270

PMID: 1539594

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Abstract

The ability to efficiently detect DNA polymorphisms is essential for the completion of a high-resolution polymorphic linkage map of the human genome. Currently the most informative polymorphisms are the multiallelic dinucleotide repeat polymorphisms. However, many gene sequences lack an associated dinucleotide repeat sequence. We used GC-clamped denaturing gradient gel electrophoresis to screen for DNA polymorphisms in the following six gene sequences: MCC, p53, prealbumin (transthyretin), rhodopsin, S-antigen, and TGF-alpha. A single-base sequence polymorphism was identified in each of these gene sequences. Some of these polymorphisms were multiallelic and highly informative. Our results demonstrate the value of denaturing gradient gel electrophoresis for both identifying and analyzing human DNA polymorphisms. The ability to detect highly informative polymorphisms within gene sequences will greatly contribute to a gene-based polymorphic linkage map.

Polymerase Chain Reaction

Prealbumin - genetics

Humans

Genes, Tumor Suppressor - genetics

Molecular Sequence Data

Arrestin

Genes, p53 - genetics

Electrophoresis, Gel, Pulsed-Field

Transforming Growth Factor alpha - genetics

Proteins - genetics

Rhodopsin - genetics

DNA - analysis

Base Sequence

Chromosome Mapping - methods

Alleles

Polymorphism, Genetic - genetics

Eye Proteins - genetics

Genetic Linkage - genetics

Tumor Suppressor Proteins

Antigens - genetics

Details

Title: Subtitle: Detection of multiallele polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis
Creators: Val C Sheffield - Department of Pediatrics University of Iowa, Iowa City
John S Beck
Brian Nichols
Anthony Cousineau
Andrew Lidral
Edwin M Stone
Resource Type: Journal article
Publication Details: American journal of human genetics, Vol.50(3), pp.567-575
PMID: 1539594
PMCID: PMC1684270
NLM abbreviation: Am J Hum Genet
ISSN: 0002-9297
eISSN: 1537-6605
Publisher: United States
Grant note: P30H027748 / PHS HHS HG00457 / NHGRI NIH HHS EY08426 / NEI NIH HHS
Language: English
Date published: 03/1992
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983979909102771

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