The effects of genotype-dependent recombination, and transmission asymmetry, on linkage disequilibrium

被引:9
作者
Hellenthal, G
Pritchard, JK
Stephens, M
机构
[1] Univ Washington, Dept Stat, Seattle, WA 98195 USA
[2] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA
关键词
D O I
10.1534/genetics.104.039271
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A recent sperm-typing study by Jeffreys and Neumann suggested that recombination rates in different individuals at the DNA2 recombination hotspot appeared to be highly dependent on their genotype at a particular A/G SNP, FG11. Specifically, individuals who carried at least one copy of the A allele at this SNP exhibited rates of crossover considerably higher than those of individuals with no copies. Further, recombinant sperm from heterozygous individuals showed a preferential tendency to carry the G allele. We consider the effects of these phenomena on patterns of linkage disequilibrium and find them to be more subtle than might have been expected. In particular, our analysis suggest that, perhaps surprisingly, patterns of LD among chromosomes carrying the "hot" allele (in case, A) will typically be similar to those among chromosomes carrying the "cold" allele (G).
引用
收藏
页码:2001 / 2005
页数:5
相关论文
共 15 条
[1]  
[Anonymous], 1998, COMMUN STAT STOCH MO, DOI [10.1080/15326349808807471, DOI 10.1080/15326349808807471]
[2]   Evidence for substantial fine-scale variation in recombination rates across the human genome [J].
Crawford, DC ;
Bhangale, T ;
Li, N ;
Hellenthal, G ;
Rieder, MJ ;
Nickerson, DA ;
Stephens, M .
NATURE GENETICS, 2004, 36 (07) :700-706
[3]   Gene conversion and different population histories may explain the contrast between polymorphism and linkage disequilibrium levels [J].
Frisse, L ;
Hudson, RR ;
Bartoszewicz, A ;
Wall, JD ;
Donfack, J ;
Di Rienzo, A .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) :831-843
[4]   Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex [J].
Jeffreys, AJ ;
Kauppi, L ;
Neumann, R .
NATURE GENETICS, 2001, 29 (02) :217-222
[5]   Reciprocal crossover asymmetry and meiotic drive in a human recombination hot spot [J].
Jeffreys, AJ ;
Neumann, R .
NATURE GENETICS, 2002, 31 (03) :267-271
[6]   The fine-scale structure of recombination rate variation in the human genome [J].
McVean, GAT ;
Myers, SR ;
Hunt, S ;
Deloukas, P ;
Bentley, DR ;
Donnelly, P .
SCIENCE, 2004, 304 (5670) :581-584
[7]   Detecting recent positive selection in the human genome from haplotype structure [J].
Sabeti, PC ;
Reich, DE ;
Higgins, JM ;
Levine, HZP ;
Richter, DJ ;
Schaffner, SF ;
Gabriel, SB ;
Platko, JV ;
Patterson, NJ ;
McDonald, GJ ;
Ackerman, HC ;
Campbell, SJ ;
Altshuler, D ;
Cooper, R ;
Kwiatkowski, D ;
Ward, R ;
Lander, ES .
NATURE, 2002, 419 (6909) :832-837
[8]   Times on trees, and the age of an allele [J].
Stephens, M .
THEORETICAL POPULATION BIOLOGY, 2000, 57 (02) :109-119
[9]   Ancestral inference in population genetics models with selection [J].
Stephens, M ;
Donnelly, P .
AUSTRALIAN & NEW ZEALAND JOURNAL OF STATISTICS, 2003, 45 (04) :395-423
[10]   Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation [J].
Stephens, M ;
Scheet, P .
AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 76 (03) :449-462