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Localization and finemapping of huma...

Graham, Robert Royal.

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Localization and finemapping of human systemic lupus erythematosus susceptibility loci at chromosome 6p21.3 (the human leukocyte antigen region) and chromosome 1q41.

Record Type:	Electronic resources : Monograph/item
Title/Author:	Localization and finemapping of human systemic lupus erythematosus susceptibility loci at chromosome 6p21.3 (the human leukocyte antigen region) and chromosome 1q41./
Author:	Graham, Robert Royal.
Description:	132 p.
Notes:	Source: Dissertation Abstracts International, Volume: 63-10, Section: B, page: 4472.
Contained By:	Dissertation Abstracts International63-10B.
Subject:	Biology, Genetics. -
Online resource:	http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=3069193
ISBN:	0493888837

Localization and finemapping of human systemic lupus erythematosus susceptibility loci at chromosome 6p21.3 (the human leukocyte antigen region) and chromosome 1q41.
Graham, Robert Royal.

Localization and finemapping of human systemic lupus erythematosus susceptibility loci at chromosome 6p21.3 (the human leukocyte antigen region) and chromosome 1q41. - 132 p.

Source: Dissertation Abstracts International, Volume: 63-10, Section: B, page: 4472.

Thesis (Ph.D.)--University of Minnesota, 2002.

Systemic Lupus Erythematosus (SLE) is a multi-factorial disease caused by contributions from the environment, gender, and genes. The identification of SLE susceptibility genes will provide insight into the biological pathways that are dysfunctional and facilitate the development of novel therapies and interventions.

ISBN: 0493888837Subjects--Topical Terms:

1017730
Biology, Genetics.

Localization and finemapping of human systemic lupus erythematosus susceptibility loci at chromosome 6p21.3 (the human leukocyte antigen region) and chromosome 1q41.
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020 $a 0493888837
035 $a (UnM)AAI3069193
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040 $a UnM $c UnM
100 1 $a Graham, Robert Royal. $3 1940985
245 1 0 $a Localization and finemapping of human systemic lupus erythematosus susceptibility loci at chromosome 6p21.3 (the human leukocyte antigen region) and chromosome 1q41.
300 $a 132 p.
500 $a Source: Dissertation Abstracts International, Volume: 63-10, Section: B, page: 4472.
500 $a Adviser: Timothy W. Behrens.
502 $a Thesis (Ph.D.)--University of Minnesota, 2002.
520 $a Systemic Lupus Erythematosus (SLE) is a multi-factorial disease caused by contributions from the environment, gender, and genes. The identification of SLE susceptibility genes will provide insight into the biological pathways that are dysfunctional and facilitate the development of novel therapies and interventions.
520 $a Based on the initial genome screens conducted in SLE, we hypothesized that SLE susceptibility genes are located on the short arm of chromosome 6 (Human Leukocyte Antigen region, HLA) and at chromosome1q41. Using linkage and association mapping techniques, we sought to localize the susceptibility genes to defined intervals that contain a small number of candidate genes.
520 $a Finemapping of the short arm of chromosome 6 revealed the presence of linkage and association at the HLA (6p21.3). Three haplotypes account for the observed association at the HLA and were enriched in cases compared to controls. By visualizing the HLA Class II risk haplotypes the critical interval for each haplotype was determined. The critical interval for the HLA-DR2-DQ6 and DR8-D4 haplotypes were localized to an &sim;500 kb region and the critical interval for the DR3-DQ2 haplotype was localized to &sim;1 Mb region. The DR2-DQ6 and DR8-DQ4 haplotypes follow a recessive model of inheritance, while the DR3-DQ2 haplotype is consistent with an additive model of inheritance. Individuals carrying two copies of the risk haplotypes had an increase in antibodies specific for extractable nuclear antigens and an increase in the incidence of hematologic disorders.
520 $a Linkage and association at 1g41 was confirmed in the Minnesota SLE family collection. A &sim;1 Mb susceptibility interval centered on the 5<super>′ </super> region of the estrogen related receptor gamma (ESRRG) gene was identified based on the association of microsatellite alleles from seven closely linked markers. In addition, two haplotypes of ESRRG showed significant transmission distortion. The ESRRG is an intriguing candidate gene given that estrogens are known to modulate disease in mouse models and the peak incidence of SLE occurs when estrogens are expressed at their highest levels. A SNP map of the ESRRG gene was created that will assist in the identification of the polymorphisms that increase susceptibility to SLE.
590 $a School code: 0130.
650 4 $a Biology, Genetics. $3 1017730
690 $a 0369
710 2 0 $a University of Minnesota. $3 676231
773 0 $t Dissertation Abstracts International $g 63-10B.
790 1 0 $a Behrens, Timothy W., $e advisor
790 $a 0130
791 $a Ph.D.
792 $a 2002
856 4 0 $u http://pqdd.sinica.edu.tw/twdaoapp/servlet/advanced?query=3069193