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
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.
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
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
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) .
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].
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.