This HTML5 document contains 42 embedded RDF statements represented using HTML+Microdata notation.

The embedded RDF content will be recognized by any processor of HTML5 Microdata.

Namespace Prefixes

PrefixIRI
n13http://www.guysandstthomas.nhs.uk/news/newsarchive/newsarticles/
dctermshttp://purl.org/dc/terms/
dbohttp://dbpedia.org/ontology/
foafhttp://xmlns.com/foaf/0.1/
n18https://global.dbpedia.org/id/
n8https://web.archive.org/web/20060930051138/http:/www.guysandstthomas.nhs.uk/news/newsarchive/newsarticles/
dbthttp://dbpedia.org/resource/Template:
rdfshttp://www.w3.org/2000/01/rdf-schema#
freebasehttp://rdf.freebase.com/ns/
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
wikipedia-enhttp://en.wikipedia.org/wiki/
dbphttp://dbpedia.org/property/
dbchttp://dbpedia.org/resource/Category:
provhttp://www.w3.org/ns/prov#
xsdhhttp://www.w3.org/2001/XMLSchema#
goldhttp://purl.org/linguistics/gold/
wikidatahttp://www.wikidata.org/entity/
dbrhttp://dbpedia.org/resource/

Statements

Subject Item
dbr:Preimplantation_genetic_haplotyping
rdf:type
dbo:Software
rdfs:label
Preimplantation genetic haplotyping
rdfs:comment
Preimplantation genetic haplotyping (PGH) is a clinical method of preimplantation genetic diagnosis (PGD) used to determine the presence of single gene disorders in offspring. PGH provides a more feasible method of gene location than whole-genome association experiments, which are expensive and time-consuming.
dcterms:subject
dbc:Medical_genetics dbc:Fertility_medicine
dbo:wikiPageID
5630419
dbo:wikiPageRevisionID
1078604425
dbo:wikiPageWikiLink
dbc:Fertility_medicine dbr:Sickle-cell_disease dbr:London dbr:Duchenne_muscular_dystrophy dbr:Guy's_Hospital dbr:Embryo dbr:Single-nucleotide_polymorphism dbr:Preimplantation_genetic_diagnosis dbc:Medical_genetics dbr:Alport's_syndrome dbr:Cystic_fibrosis dbr:Haplotype dbr:In_vitro dbr:Fluorescence_in_situ_hybridization dbr:Huntington's_disease dbr:Chromosomal_translocation dbr:Chromosome dbr:Amplified_fragment_length_polymorphism dbr:Spinal_muscular_atrophy dbr:Von_Hippel–Lindau_disease dbr:Polymerase_chain_reaction dbr:Short_tandem_repeats dbr:Hydatidiform_mole
dbo:wikiPageExternalLink
n8:pgd.aspx n13:pgd.aspx
owl:sameAs
freebase:m.0dx6wg wikidata:Q7239985 n18:4tVDs
dbp:wikiPageUsesTemplate
dbt:Reflist dbt:Cite_web
dbo:abstract
Preimplantation genetic haplotyping (PGH) is a clinical method of preimplantation genetic diagnosis (PGD) used to determine the presence of single gene disorders in offspring. PGH provides a more feasible method of gene location than whole-genome association experiments, which are expensive and time-consuming. PGH differs from common PGD methods such as fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) for two primary reasons. First, rather than focusing on the genetic makeup of an embryo PGH compares the genome of affected and unaffected members of previous generations. This examination of generational variation then allows for a haplotype of genetic markers statistically associated with the target disease to be identified, rather than searching merely for a mutation. PGH is often used to reinforce other methods of genetic testing, and is considered more accurate than certain more common PGD methods because it has been found to reduce risk of misdiagnoses. Studies have found that misdiagnoses due to allele dropout (ADO), one of the most common causes of interpretation error, can be almost eliminated through use of PGH. Further, in the case of mutation due to translocation, PGH is able to detect chromosome abnormality to its full extent by differentiating between embryos carrying balanced forms of a translocation versus those carrying the homologous normal chromosomes. This is an advantage because PGD methods such as FISH are able to reveal whether an embryo will express the phenotypic difference, but not whether an embryo may be a carrier. In 2015, PGH was used in conjunction with a whole-genome amplification (WGA) process to not only diagnose disease but also distinguish meiotic segregation errors from mitotic ones. Studies are being continually performed in an attempt to utilize and improve PGD methods since their initial invention. It has become increasingly popular because it grants individuals the option of detecting embryo abnormalities before implantation, rather than during the beginning weeks of pregnancy. The latter often results in embryo abortion, presenting an ethical dilemma for many that can now be avoided.
gold:hypernym
dbr:Method
prov:wasDerivedFrom
wikipedia-en:Preimplantation_genetic_haplotyping?oldid=1078604425&ns=0
dbo:wikiPageLength
8407
foaf:isPrimaryTopicOf
wikipedia-en:Preimplantation_genetic_haplotyping