Among the first generation of these mouse pairs, the most severe AI appeared on the incisors of
hemizygous (AmelxX*/Y) mutant male mice.
According to these authors, if a resistance gene arises by mutation in a population, regardless of its intrinsic dominance or recessiveness, it can be exposed to selection from the outset in haploid males, as they are
hemizygous, then accelerating resistance development.
(Some among you may note there's another possibility,
hemizygous deletion.
Five patients from two different families had this mutation as homozygous and two patients from the same family had
hemizygous inheritance as a part of compound heterozygous mutation.
Hemizygous minipigs produced by random gene insertion and handmade cloning express the Alzheimer's disease-causing dominant mutation APPsw.
Molecular genetic analysis was performed for suspected MD and a
hemizygous mutation (p.
Its genetic etiology affects the expression of the Proteolipidic Protein type 1 (3,4), varying from
hemizygous mutations to gene dosage alterations of the PLP1 (Xq22).
Another advantage to this technique over polymerase chain reaction-based assays is the ability to identify homozygous and
hemizygous deletions.
The GLA gene, which encodes [alpha]-galA, is located on the X-chromosome (Xq22.1), whereby practically all men carrying a genetic mutation (
hemizygous) develop the disease, while women (heterozygotes) exhibit a wide variability in the severity of their phenotype, mainly due to the random X-chromosomes inactivation in each of their cells (Lyon hypothesis) [4].
Disease presentation of
hemizygous males occurs more often as the classical type early in childhood or adolescence with typical symptoms, while heterozygous females can be affected as classical types, although the range of symptoms varies widely [2, 4].
A
hemizygous c.31C>T(p.Arg11Ter) mutation was found in CD40LG gene.
Chen et al., "A severe case of hyperinsulinism due to
hemizygous activating mutation of glutamate dehydrogenase," Pediatric Diabetes, vol.