NORMAL / CLEAR - homozygotes with two
normal copies of the gene do not develop NAD and can only transmit the normal gene to its offspring.
Not exact matches
Both mouse and human males typically die early from the mutation in Mecp2, because their Y chromosome
does not supply a
normal copy of the
gene.
The reason has been a mystery, but some researchers suspect it has to
do with one or more
of the
genes on chromosome 21, which people with Down syndrome have three
copies of instead
of the
normal two.
The Ionis ASO doesn't distinguish between RNA coming from the
normal and mutant
copy of the
gene, so it lowers the amount
of both the
normal and mutant protein.
Meanwhile, the
normal copy of the
gene produces a protein that
does useful stuff and doesn't cause harm.
In case
of SMA, carriers
do not show any symptoms
of SMA and have one
normal copy of SMN1
gene and one mutated, or defective,
copy.
CARRIERS - heterozygotes with one
copy of the mutation and one
copy of the
normal gene do not develop NAD but they can transmit the PLA2G6 mutation to progeny.