Heterogeneity

What are Mucopolysaccharidoses, i.e. MPS?

A group of disorders characterized by similar findings: organomegaly of liver and spleen,

In PKU, most affected individuals are compound heterozygotes. What does this mean?

Compound heterozygosity in medical genetics is the condition of having two heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state. I.e. an organism is a comp het when it has two recessive alleles for the same gene, but with those two alleles being different from each other, e.g. both alleles might be mutated but at different locations

What is allelic heterogeneity?

Different mutations at the same locus. E.g. PKU has over 300 known mutations in phenylalanine hydroxylase known. Some ethnic-specific mutations but not as much as seen in CF.

What is non-allelic, i.e. locus, heterogeneity?

Mutations in different genes cause the same phenotype describes non-allelic heterogeneity

What are the 2 types of heterogeneity?

non-allelic, i.e. locus heterogeneity. And Allelic heterogeneity