Show simple item record

dc.contributor.authorStefansson, H
dc.contributor.authorEinarsdottir, A
dc.contributor.authorGeirsson, R T
dc.contributor.authorJonsdottir, K
dc.contributor.authorSverrisdottir, G
dc.contributor.authorGudnadottir, V G
dc.contributor.authorGunnarsdottir, S
dc.contributor.authorManolescu, A
dc.contributor.authorGulcher, J
dc.contributor.authorStefansson, K
dc.date.accessioned2010-11-09T13:27:56Z
dc.date.available2010-11-09T13:27:56Z
dc.date.issued2001-11
dc.date.submitted2010-11-09
dc.identifier.citationFertil. Steril. 2001, 76(5):1019-22en
dc.identifier.issn0015-0282
dc.identifier.pmid11704127
dc.identifier.doi10.1016/S0015-0282(01)02862-X
dc.identifier.urihttp://hdl.handle.net/2336/115148
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractOBJECTIVE: To investigate a possible association between the carrier frequency of the N314D mutation in the galactose-1-phosphate uridyl transferase (GALT) gene and endometriosis and linkage to the short arm of chromosome 9, where the GALT gene resides. DESIGN: Association and linkage study. SETTING: Population material collected for case and family studies in endometriosis. PATIENT(S): Women diagnosed with endometriosis by laparotomy or laparoscopy. INTERVENTION(S): Association with the GALT gene investigated by genotyping 85 affected women and 213 unrelated control women and a scan for linkage to chromosome 9 in 205 women from 64 families with endometriosis. MAIN OUTCOME MEASURE(S): Multipoint parametric lod scores and frequency of alleles. RESULT(S): There was no significant difference in allele frequency for the N314D polymorphism in patients compared with control subjects. No evidence for linkage was found to chromosome 9p, where the GALT gene resides. CONCLUSION(S): The experiments reported herein provide no evidence supporting involvement of the GALT locus in the development of endometriosis.
dc.language.isoenen
dc.publisherElsevier for the American Society for Reproductive Medicineen
dc.relation.urlhttp://dx.doi.org/10.1016/S0015-0282(01)02862-Xen
dc.subject.meshChromosome Mappingen
dc.subject.meshChromosomes, Human, Pair 9en
dc.subject.meshEndometriosisen
dc.subject.meshFemaleen
dc.subject.meshHeterozygoteen
dc.subject.meshHumansen
dc.subject.meshLinkage (Genetics)en
dc.subject.meshLod Scoreen
dc.subject.meshMicrosatellite Repeatsen
dc.subject.meshPolymorphism, Geneticen
dc.subject.meshReference Valuesen
dc.subject.meshUTP-Hexose-1-Phosphate Uridylyltransferaseen
dc.titleEndometriosis is not associated with or linked to the GALT geneen
dc.typeArticleen
dc.contributor.departmentdeCODE Genetics, Lynghals 1, 110 Reykjavik, Iceland. hreinn@decode.isen
dc.identifier.journalFertility and sterilityen
html.description.abstractOBJECTIVE: To investigate a possible association between the carrier frequency of the N314D mutation in the galactose-1-phosphate uridyl transferase (GALT) gene and endometriosis and linkage to the short arm of chromosome 9, where the GALT gene resides. DESIGN: Association and linkage study. SETTING: Population material collected for case and family studies in endometriosis. PATIENT(S): Women diagnosed with endometriosis by laparotomy or laparoscopy. INTERVENTION(S): Association with the GALT gene investigated by genotyping 85 affected women and 213 unrelated control women and a scan for linkage to chromosome 9 in 205 women from 64 families with endometriosis. MAIN OUTCOME MEASURE(S): Multipoint parametric lod scores and frequency of alleles. RESULT(S): There was no significant difference in allele frequency for the N314D polymorphism in patients compared with control subjects. No evidence for linkage was found to chromosome 9p, where the GALT gene resides. CONCLUSION(S): The experiments reported herein provide no evidence supporting involvement of the GALT locus in the development of endometriosis.


Files in this item

Thumbnail
Name:
Publisher version

This item appears in the following Collection(s)

Show simple item record