title: Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots.
abstract: Recent studies of human populations suggest that the genome consists of chromosome segments that are ancestrally conserved ('haplotype blocks'; refs. 1-3) and have discrete boundaries defined by recombination hot spots. Using publicly available genetic markers, we have constructed a first-generation haplotype map of chromosome 19. As expected for this marker density, approximately one-third of the chromosome is encompassed within haplotype blocks. Evolutionary modeling of the data indicates that recombination hot spots are not required to explain most of the observed blocks, providing that marker ascertainment and the observed marker spacing are considered. In contrast, several long blocks are inconsistent with our evolutionary models, and different mechanisms could explain their origins.
authors.affiliation: Orchid Biosciences Inc., 303A College Road East, Princeton, New Jersey 08540, USA.
authors.forename: M S
authors.initials: MS
authors.lastname: Phillips
authors.forename: R
authors.initials: R
authors.lastname: Lawrence
authors.forename: R
authors.initials: R
authors.lastname: Sachidanandam
authors.forename: A P
authors.initials: AP
authors.lastname: Morris
authors.forename: D J
authors.initials: DJ
authors.lastname: Balding
authors.forename: M A
authors.initials: MA
authors.lastname: Donaldson
authors.forename: J F
authors.initials: JF
authors.lastname: Studebaker
authors.forename: W M
authors.initials: WM
authors.lastname: Ankener
authors.forename: S V
authors.initials: SV
authors.lastname: Alfisi
authors.forename: F-S
authors.initials: FS
authors.lastname: Kuo
authors.forename: A L
authors.initials: AL
authors.lastname: Camisa
authors.forename: V
authors.initials: V
authors.lastname: Pazorov
authors.forename: K E
authors.initials: KE
authors.lastname: Scott
authors.forename: B J
authors.initials: BJ
authors.lastname: Carey
authors.forename: J
authors.initials: J
authors.lastname: Faith
authors.forename: G
authors.initials: G
authors.lastname: Katari
authors.forename: H A
authors.initials: HA
authors.lastname: Bhatti
authors.forename: J M
authors.initials: JM
authors.lastname: Cyr
authors.forename: V
authors.initials: V
authors.lastname: Derohannessian
authors.forename: C
authors.initials: C
authors.lastname: Elosua
authors.forename: A M
authors.initials: AM
authors.lastname: Forman
authors.forename: N M
authors.initials: NM
authors.lastname: Grecco
authors.forename: C R
authors.initials: CR
authors.lastname: Hock
authors.forename: J M
authors.initials: JM
authors.lastname: Kuebler
authors.forename: J A
authors.initials: JA
authors.lastname: Lathrop
authors.forename: M A
authors.initials: MA
authors.lastname: Mockler
authors.forename: E P
authors.initials: EP
authors.lastname: Nachtman
authors.forename: S L
authors.initials: SL
authors.lastname: Restine
authors.forename: S A
authors.initials: SA
authors.lastname: Varde
authors.forename: M J
authors.initials: MJ
authors.lastname: Hozza
authors.forename: C A
authors.initials: CA
authors.lastname: Gelfand
authors.forename: J
authors.initials: J
authors.lastname: Broxholme
authors.forename: G R
authors.initials: GR
authors.lastname: Abecasis
authors.forename: M T
authors.initials: MT
authors.lastname: Boyce-Jacino
authors.forename: L R
authors.initials: LR
authors.lastname: Cardon
mesh_terms: D000483:Alleles; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D004247:DNA / Q000235:genetics; D019143:Evolution, Molecular; D005787:Gene Frequency; D005819:Genetic Markers; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium; D008957:Models, Genetic; D020641:Polymorphism, Single Nucleotide; D011995:Recombination, Genetic
chemical_list: D005819:Genetic Markers; D004247:DNA