health advisory >> medicine >> Why is the disease Phenylketonuria described as 鈥渞elatively common鈥

Why is the disease Phenylketonuria described as 鈥渞elatively common鈥

health advisory Hospital Doctor Yu 2007-11-8 19:09:54

I know 1 in 50 people carry the gene for this disease, but only 1 in 14000 people are born with it. Why is it then that the disease is described as 鈥渞elatively common鈥?given these frequencies?

Answers:

Population-genetically speaking, any gene which is present at greater than 1% (1 in 100) is considered to be relatively common. The fact that it is recessive, and that there seems to be some selection against it (1 in 50 in heterozygotes should give 1 in 2500 in homozygotes. the fact that it only appears 1 in 14,000 means that the others may not make it to birth) makes the homozygote data skewed.


one in fourteen thousand? Thats a pretty "common percentage" verses one in six billion..
1 in 14000 means 430,000 people are afflicted, probably not common but also not rare

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