Q: haplotype vs genotype

Gerard Tromp tromp at sanger.med.wayne.edu
Tue Oct 20 17:17:46 EST 1998


Chi-Hse Teng wrote:
> 
> Could someone please explain what are the difference between haplotype
> and alleles or genotype?   Thanks.
> 

A brief synopsis:

An allele is a particular variant of a locus, where the variant is
frequently a DNA sequence variant but can be an abstract concept. The
genotype of an individual is the combination of variants at a particular
locus that are present in that individual. In  the population there are
theoretically k*(k+1)/2 genotypes for k alleles at a particular locus. A
haplotype is the ordered array of allelotypes in a contiguous piece of
DNA (is of little significance over large distances where recombination
will almost certainly rearrange it). There are n1*n2* .. *nx possible
haplotypes for x loci with n1 alleles at locus 1, n2 alleles at locus 2
.. and so on. 

Gerard
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Gerard Tromp, Ph.D.
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