Global survey of haplotype frequencies and linkage disequilibrium at the RET locus View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2003-10

AUTHORS

Pratima Chattopadhyay, Andrew J Pakstis, Namita Mukherjee, Sudha Iyengar, Adekunle Odunsi, Friday Okonofua, Batsheva Bonne-Tamir, William Speed, Judith R Kidd, Kenneth K Kidd

ABSTRACT

We have constructed haplotypes based on normal variation at six polymorphic sites-five single nucleotide polymorphisms (SNPs) and one short tandem repeat polymorphism (STRP)-at the RET locus for samples of normal individuals from 32 populations distributed across the major continental regions of the world. The haplotyped system spans 41.6 kilobases and encompasses most of the coding region of the gene. All of the markers are polymorphic in all regions of the world and in most individual populations. Expected heterozygosities for the six-site haplotypes range from 82 to 94% for all populations studied except for two Amerindian groups from the Amazon basin at 61 and 76%. Individual populations had from four to eight haplotypes with frequencies exceeding 5%. In general, African, southwest Asian and European groups have the highest numbers of total and of commonly occurring haplotypes; the lowest numbers are observed in Amerindian populations. Overall linkage disequilibrium (LD) for the five SNP sites was very significant (P More... »

PAGES

760

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201036

DOI

http://dx.doi.org/10.1038/sj.ejhg.5201036

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1004562037

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/14512966


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JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201036'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201036'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201036'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201036'


 

This table displays all metadata directly associated to this object as RDF triples.

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336 schema:name Department of Gynecological Oncology, Roswell Park Cancer Institute, Buffalo, NY, USA
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344 https://www.grid.ac/institutes/grid.67105.35 schema:alternateName Case Western Reserve University
345 schema:name Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA
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