Throughout Southeast Asia, GLA IVS4+919G>A mutation is
found in high prevalence in patients with hypertrophic cardiomyopathy. This x-linked
mutation is the cause of Fabry disease. Liang and others sampled 33 male patients
with the mutation from throughout Southeast Asia to identify its age and origins.
The mutation was found to be associated with a specific haplotype, not shared
by 15 healthy people. Based on this finding, they suggest that there was a
single founder for the GLA IVS4 mutation. They estimated the age of the haplotype
using linkage-disequilibrium decay theory and found an estimated date between 800
and a 1000 years ago.
Joshua Porter – Journal of Human Genetics Update 3
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