Sunday, April 12, 2009

Haplotypes resulting from polymorphic restriction sites in the !-globin gene cluster

From the presence or absence of recognition
sites of a number of restriction enzymes (restriction
fragment length polymorphism, RFLP),
different haplotypes can be distinguished in the
"-globin-like gene region ("-globin gene
cluster). Each haplotype is characterized by the
presence or absence of several polymorphic restriction
sites. By establishing the haplotypes of
the affected and unaffected individuals within a
family, the mutation-carrying haplotype can be
identified (indirect genotype analysis). Different
mutations have occurred on the background
of different haplotypes. Frequently, a
particular mutation is linked to a distinct haplotype
(linkage disequilibrium). This reflects the
time elapsed since the mutation first occurred
in the population, where it has been maintained
by selection.

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