In:
Genome Research, Cold Spring Harbor Laboratory, Vol. 13, No. 5 ( 2003-05-01), p. 845-855
Abstract:
Patterns of linkage disequilibrium (LD) in the human genome are beginning to be characterized, with a paucity of haplotype diversity in “LD blocks,” interspersed by apparent “hot spots” of recombination. Previously, we cloned and physically characterized the low-density lipoprotein-receptor-related protein 5 ( LRP5 ) gene. Here, we have extensively analysed both LRP5 and its flanking three genes, spanning 269 kb, for single nucleotide polymorphisms (SNPs), and we present a comprehensive SNP map comprising 95 polymorphisms. Analysis revealed high levels of recombination across LRP5 , including a hot-spot region from intron 1 to intron 7 of LRP5 , where there are 109 recombinants/Mb (4882 meioses), in contrast to flanking regions of 14.6 recombinants/Mb. This region of high recombination could be delineated into three to four hot spots, one within a 601-bp interval. For LRP5 , three haplotype blocks were identified, flanked by the hot spots. Each LD block comprised over 80% common haplotypes, concurring with a previous study of 14 genes that showed that common haplotypes account for at least 80% of all haplotypes. The identification of hot spots in between these LD blocks provides additional evidence that LD blocks are separated by areas of higher recombination. [Supplementary material: primers are available from our Web site: http://www-gene.cimr.cam.ac.uk/todd/human_data.shtml .]
Type of Medium:
Online Resource
ISSN:
1088-9051
,
1549-5469
Language:
English
Publisher:
Cold Spring Harbor Laboratory
Publication Date:
2003
detail.hit.zdb_id:
1483456-X
SSG:
12
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