McSA1 immunoreactivity remained limited to the intracellular compartment
in heterozygote animals.
Of the genotyped Icelanders, 7.7 % are homozygotes or compound
heterozygotes for loss - of - function mutations with a minor allele frequency (MAF) below 2 % in 1,171 genes (complete knockouts).
Of course, to detect LOH, one needs a variant that's heterozygous in the Normal, and to precisely define the region of LOH, one needs a dense set
of heterozygotes.
These divergences are particularly strong when comparing the communication of
FOXP2 heterozygotes and wildtype males while in the presence of active female mice.
Non-transgenic and
transgenic heterozygote rats exhibited high freezing responses (~ 70 % and ~ 60 % freezing, respectively)(Figure 6e).
There was a mild learning response in
heterozygote animals (F2, 14 = 4.95; p < 0.05) with respect to their baseline freezing behavior.
The latter fact can cast doubt on the calling of male
heterozygotes by this method and could possibly lead to the results shown in studies testing the mode of inheritance of ridgelessness.
In this context, the wildtype males were 3 times as likely
as heterozygotes to produce the most complex syllable types and sequences available for review.
At this early time - point, transgenic homozygotes and
heterozygote rats had comparable fear conditioning responses throughout all test phases.
Two elderly family members are unaffected despite having a compound
heterozygote genotype with the pathogenic R304 * mutation and the A299V variant on two different alleles (6).
The breed suffers greatly from allergies, immunodeficiency, and a number of autoimmune disorders, which may be a reflection of loss of balanced selection and
heterozygote advantage in the DLA region.
(B — C) aplnrA; aplnrB
double heterozygote parents were incrossed and their progeny examined by in situ hybridization at 50 % epiboly.
(B) Representative images of Nodal target gene expression in offspring from aplnrA; aplnrB double
heterozygote parents.
Rescue of sun sensitivity and premature aging by embryonic lethal Xpd alleles in compound
heterozygote mice suggests new thinking about recessive disorders in humans (see Mitchell et al.).
A method is described which permits rapid phenotypic diagnosis of the Lesch -
Nyhan heterozygote by direct assay of hypoxanthine guanine phosphori - bosyltransferase activity in single hair follicles obtained from the scalp.
The genetic map of the coffee tree studied, produced in the 1980s by IRD in Cote d'Ivoire, also had the advantage of being a homozygous plant (two identical sets of eleven chromosomes), which is easier to analyse than
natural heterozygotes.
But the blood test that was used, the Sickledex test, could not tell people with the sickle - cell trait, called
genetic heterozygotes, apart from those with sickle - cell disease, the homozygotes.
The importance of CCR5 for HIV - 1 pathogenesis is shown by the fact that individuals who are homozygous for an inactivating 32 base pair deletion in ccr5 (ccr5Δ32) are highly resistant to HIV infection [2], [3],
while heterozygotes typically live longer after HIV infection due to reduced CCR5 expression levels [4], [5].
Although phenotypic consequences, referred to here as biallelic effects, resulting from two different mutant alleles in compound
heterozygote patients have been postulated, such effects have historically been difficult to distinguish from the influence of environment and genetic background.
In addition, it has been reported that median lifespan extension in
CR heterozygote SIRT1 (±) mice was identical (51 %) to that observed in wild - type mice, but SIRT1 (±) mice displayed a higher frequency of certain pathologies 13 highlighting its important role in age - related diseases.
To obtain fat bodies, we also used carefully staged 24 h AL3E w1118, gbp1, gbp2
ex67 heterozygote, and gbp1, gbp2 ex67 homozygote larvae.
Huttenlocher
J Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease.
Psoriasis patients who are homozygous for the HLA - Cw * 0602 allele have a 2.5-fold increased risk of developing psoriasis compared with
Cw6 heterozygotes.
This element, referred to as the peel - 1 / zeel - 1 element, is polymorphic within the species, and when animals carrying the peel - 1 / zeel - 1 element are crossed to animals lacking it, the peel - 1 / zeel - 1 element acts in the
F1 heterozygote via paternal effect to kill F2 or backcross embryos not inheriting it.
So far we have tested 1690 dogs, 53 % were negative, 41 % were
positive heterozygotes and 6 % were positive homozygotes.
All 20 affected dogs were homozygous for the mutation; five control dogs were carriers (dogs 7, 9, 10, 12, and 13 in Appendix 1, of which 10 and 13 were
obligate heterozygotes because they produced affected dogs); and 16 controls were homozygous normal.
The results showed that the
FOXP2 heterozygotes have difficulty producing the complex vocal communication patterns that wildtype mice can create with ease — as measured both by syllable length and the number of unique syllables produced over time.
The 3 - month old group consisted of:
transgenic heterozygote (n = 7) and homozygote (n = 7) rats and non-transgenic (n = 10) littermates.
By default lines are archived
as heterozygotes and a minimum of 5 males is required.
Homozygote and
heterozygote genotypes were accepted for each SNP and each individual if the total effective sequence coverage was equal to or higher than 8X and genotype quality equal to or higher than 20, otherwise that specific genotype was coded as missing data.
Pupae shortly before eclosion (I) and 1 - d - old female adults (J) of mutant and
heterozygote animals were photographed.