Question describes the genetic concept of uniparental disomy ( inheriting both genes/ alleles from one parent )
Most cases of uniparental disomy will give a normal phenotype but in cases when imprinting is involved ( natural silencing of genes ) , abnormalities may occur .
* Take for example the two most commonly cited examples of this situation
Prader -Willi and Angelman syndrome
In Prader Willi - normally the gene derived from mother(at that specific locus ) is silenced and it is the paternal allele which is functional. If the paternal gene becomes deleted , all you end up with a is the mothers silenced/nonfunctional allele . Alternatively if both genes are maternally derived ( Uniparental Disomy ) , you end up with 2 nonfunctional/silenced genes
The same thing occurs for angelman just vice-versa
submitted by โandro(269)
Question describes the genetic concept of uniparental disomy ( inheriting both genes/ alleles from one parent )
Most cases of uniparental disomy will give a normal phenotype but in cases when imprinting is involved ( natural silencing of genes ) , abnormalities may occur . * Take for example the two most commonly cited examples of this situation
Prader -Willi and Angelman syndrome
In Prader Willi - normally the gene derived from mother(at that specific locus ) is silenced and it is the paternal allele which is functional. If the paternal gene becomes deleted , all you end up with a is the mothers silenced/nonfunctional allele . Alternatively if both genes are maternally derived ( Uniparental Disomy ) , you end up with 2 nonfunctional/silenced genes
The same thing occurs for angelman just vice-versa