Detection of polymorphism in the RING3 gene by high-throughput fluorescent SSCP analysis View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1999-03

AUTHORS

Karen L. Thorpe, Alan J. Schafer, Emmanuelle Génin, John Trowsdale, S. Beck

ABSTRACT

We describe the use of a high-throughput, fluorescent, polymorphism-detection system, based on single-strand conformation polymorphism to screen for polymorphism in the RING3 gene. This is the first extensive mutation screen of this major histocompatibility complex-linked gene, and the entire coding region and intron-exon junctions were examined by multiplexing over 3000 polymerase chain reaction products. These techniques should be applicable for analysis of variation in other human genes. Investigation of DNA from acute lymphoblastic leukemia (ALL) and chronic myeloid leukemia (CML) patients, as well as healthy individuals revealed low levels of polymorphism across the RING3 gene. Comparison of the distribution of genotypes at each polymorphic site between patients and healthy individuals revealed a single site which significantly deviates from Hardy-Weinberg proportions. More... »

PAGES

256-265

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s002510050491

DOI

http://dx.doi.org/10.1007/s002510050491

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1040103711

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/10079288


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