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Quantitative trait linkage analysis ...

The Johns Hopkins University.

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Quantitative trait linkage analysis of ocular refraction in four populations.

Record Type:	Language materials, printed : Monograph/item
Title/Author:	Quantitative trait linkage analysis of ocular refraction in four populations./
Author:	Wojciechowski, Robert.
Description:	233 p.
Notes:	Advisers: Joan E. Bailey-Wilson; Terri Beaty.
Contained By:	Dissertation Abstracts International68-11B.
Subject:	Biology, Genetics. -
Online resource:	http://pqdd.sinica.edu.tw/twdaoeng/servlet/advanced?query=3288555
ISBN:	9780549314028

Quantitative trait linkage analysis of ocular refraction in four populations.
Wojciechowski, Robert.

Quantitative trait linkage analysis of ocular refraction in four populations. - 233 p.

Advisers: Joan E. Bailey-Wilson; Terri Beaty.

Thesis (Ph.D.)--The Johns Hopkins University, 2008.

Purpose. Refractive development is influenced by a host of environmental and genetic factors. Genetic studies have identified several loci putatively linked to refraction phenotypes, few of which have been reproduced in independent samples. We performed quantitative trait locus (QTL) linkage analyses in four populations to discover genomic regions responsible for mediating ocular refraction. We also performed genome-wide linkage meta-analyses in these populations to identify regions that may be linked to ocular refraction across populations.

ISBN: 9780549314028Subjects--Topical Terms:

1017730
Biology, Genetics.

Quantitative trait linkage analysis of ocular refraction in four populations.
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005 20100709
008 100709s2008 ||||||||||||||||| ||eng d
020 $a 9780549314028
035 $a (UMI)AAI3288555
035 $a AAI3288555
040 $a UMI $c UMI
100 1 $a Wojciechowski, Robert. $3 1023412
245 1 0 $a Quantitative trait linkage analysis of ocular refraction in four populations.
300 $a 233 p.
500 $a Advisers: Joan E. Bailey-Wilson; Terri Beaty.
500 $a Source: Dissertation Abstracts International, Volume: 68-11, Section: B, page: 7227.
502 $a Thesis (Ph.D.)--The Johns Hopkins University, 2008.
520 $a Purpose. Refractive development is influenced by a host of environmental and genetic factors. Genetic studies have identified several loci putatively linked to refraction phenotypes, few of which have been reproduced in independent samples. We performed quantitative trait locus (QTL) linkage analyses in four populations to discover genomic regions responsible for mediating ocular refraction. We also performed genome-wide linkage meta-analyses in these populations to identify regions that may be linked to ocular refraction across populations.
520 $a Methods. We recruited 242 extended families to participate in the Myopia Family Study including: 49 Ashkenazi Jewish (ASHK), 96 African American (AFRAM), 36 White/Caucasian (CAUC) and 61 Old Order Amish. A total of 1,308 individuals were genotyped with polymorphic microsatellite markers. Multipoint genomewide QTL linkage analyses were performed separately for each population using the extended regression-based method implemented in the program Merlin-regress. Empirical significance levels were determined via whole-genome gene-dropping simulations. Linkage meta-analyses were performed by combining P-values across populations at 2cM intervals and within 10 and 20cM bins. Meta-analysis P-values were obtained empirically.
520 $a Results. Two regions met genomewide (GW) significance criteria for linkage to ocular refraction: 1p36 in the ASHK (LOD=8.9, GW P<0.01) and 7p15 in the AFRAM (LOD=5.87, GW P=0.026) families. Suggestive evidence of linkage was found at 12824 (LOD=4.583, GW P=0.13) in the CAUC sample, and at 5qter (LOD=3.271, GW P=0.38) in the OOA. In addition to the population-specific linkage peaks, the meta-analysis revealed suggestive evidence of linkage to a region on chr. 4g21-22 (pointwise P=0.00214).
520 $a Conclusions. We identified several regions that may harbor genes that mediate ocular refraction in human populations. Our results also suggest considerable locus heterogeneity in the genetic etiology of ocular refraction, indicating that several, possibly interacting, genes likely play a role in refractive development.
590 $a School code: 0098.
650 4 $a Biology, Genetics. $3 1017730
650 4 $a Health Sciences, Epidemiology. $3 1019544
650 4 $a Health Sciences, Ophthalmology. $3 1019445
690 $a 0369
690 $a 0381
690 $a 0766
710 2 $a The Johns Hopkins University. $3 1017431
773 0 $t Dissertation Abstracts International $g 68-11B.
790 $a 0098
790 1 0 $a Bailey-Wilson, Joan E., $e advisor
790 1 0 $a Beaty, Terri, $e advisor
791 $a Ph.D.
792 $a 2008
856 4 0 $u http://pqdd.sinica.edu.tw/twdaoeng/servlet/advanced?query=3288555