Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28

Patricia Taillon-Miller, Irma Bauer-Sardiña, Nancy L. Saccone, Jenna Putzel, Tarja Laitinen, Antonio Cao, Juha Kere, Giuseppe Pilia, John P. Rice, Pui Yan Kwok

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219 Scopus citations


Linkage disequilibrium (LD), or the non-random association of alleles, is poorly understood in the human genome. Population genetic theory suggests that LD is determined by the age of the markers, population history, recombination rate, selection and genetic drift. Despite the uncertainties in determining the relative contributions of these factors, some groups have argued that LD is a simple function of distance between markers. Disease-gene mapping studies and a simulation study gave differing predictions on the degree of LD in isolated and general populations. In view of the discrepancies between theory and experimental observations, we constructed a high-density SNP map of the Xq25-Xq28 region and analysed the male genotypes and haplotypes across this region for LD in three populations. The populations included an outbred European sample (CEPH males) and isolated population samples from Finland and Sardinia. We found two extended regions of strong LD bracketed by regions with no evidence for LD in all three samples. Haplotype analysis showed a paucity of haplotypes in regions of strong LD. Our results suggest that, in this region of the X chromosome, LD is not a monotonic function of the distance between markers, but is more a property of the particular location in the human genome.

Original languageEnglish
Pages (from-to)324-328
Number of pages5
JournalNature Genetics
Issue number3
StatePublished - Jul 2000


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