RT Journal
A1 Twells, Rebecca C.J.
A1 Mein, Charles A.
A1 Phillips, Michael S.
A1 Hess, J. Fred
A1 Veijola, Riitta
A1 Gilbey, Matthew
A1 Bright, Matthew
A1 Metzker, Michael
A1 Lie, Benedicte A.
A1 Kingsnorth, Amanda
A1 Gregory, Edward
A1 Nakagawa, Yusuke
A1 Snook, Hywel
A1 Wang, William Y.S.
A1 Masters, Jennifer
A1 Johnson, Gillian
A1 Eaves, Iain
A1 Howson, Joanna M.M.
A1 Clayton, David
A1 Cordell, Heather J.
A1 Nutland, Sarah
A1 Rance, Helen
A1 Carr, Philippa
A1 Todd, John A.
T1 Haplotype Structure, LD Blocks, and Uneven Recombination Within the LRP5 Gene
JF Genome Research 
JO Genome Research 
YR 2003 
FD May 01 
VO 13 
IS 5 
SP 845 
OP 855 
DO 10.1101/gr.563703 
UL http://genome.cshlp.org/content/13/5/845.abstract 
AB 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 thelow-density lipoprotein-receptor-related protein 5(LRP5) gene. Here, we have extensively analysed bothLRP5 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. ForLRP5, 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.]