In this PDF, there is a quick definition of haplotype blocks.

A haplotype block is a set of closely linked alleles/markers on a chromosome that, over evolutionary time, tend to be inherited together.

Also look at this definition:

We defined a haplotype block as a region over which a very small proportion (<5%) of comparisons among informative SNP pairs show strong evidence of historical recombination. [We allow for 5% because many forces other than recombination (both biological and artifactual) can disrupt haplotype patterns, such as recurrent mutation, gene conversion, or errors of genome assembly or genotyping.]

Although in the abstract they say:

haplotype blocks: sizable regions over which there is little evidence for historical recombination and within which only a few common haplotypes are observed.

But the first definition confuses me because it really looks like the definition of linkage disequilibrium:

linkage disequilibrium is the non-random association of alleles at different loci in a given population.

Which means that they are inherited together (non-randomly inherited). The other definitions don't seem to agree in the same paper...


  1. What is haplotypes blocks precisely and compared to LD?

  2. Why is this an important concept (what is it informing us, why would want to study that specifically)?

  3. What influences haplotypes blocks and how is it useful to get some information when doing genomic analysis (can we account for that)?

Here are 2 relevant resources on the subject:

  • Daly, M. J., J. D. Rioux, S. F. Schaffner, T. J. Hudson, and E. S. Lander. 2001. High-resolution haplotype structure in the human genome. Nature Genetics 29:229–232.
  • Patil, N., A. J. Berno, D. A. Hinds, W. A. Barrett, J. M. Doshi, C. R. Hacker, C. R. Kautzer, D. H. Lee, C. Marjoribanks, D. P. McDonough, B. T. N. Nguyen, M. C. Norris, J. B. Sheehan, N. Shen, D. Stern, R. P. Stokowski, D. J. Thomas, M. O. Trulson, K. R. Vyas, K. A. Frazer, S. P. A. Fodor, and D. R. Cox. 2001. Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science 294:1719–1723.

Your Answer

By clicking "Post Your Answer", you acknowledge that you have read our updated terms of service, privacy policy and cookie policy, and that your continued use of the website is subject to these policies.

Browse other questions tagged or ask your own question.