Homozygous heterozygote. Medical search. Frequent questions

Some of the stronger mutations cause a dominant white phenotype which is lethal in the homozygous condition. (creation.com)
Surprisingly, the sequence analysis of PCR product also revealed the presence of two previously unknown homozygous mutations (TG→CT) at nucleotide positions 554 and 555 in addition to the previously reported heterozygous mutation at position 559. (researchgate.net)
To the our best of knowledge, this is the first study to report the existence of homozygous and heterozygous mutations at positions 554, 555 and 559 in exon 4 of SLC35A3 gene in Indian Holstein cattle. (researchgate.net)
However, it is surprising that no phenotypic effects were observed in the carrier bull, necessitating further studies to fully elucidate the effects of these novel homozygous mutations. (researchgate.net)
The increase in resting metabolic rate in patients homozygous for mutations involving a nucleotide-binding fold, which may result from a disruptive effect on ATP binding, indicates a practical implication of genotype identification with the need for effective nutritional intervention and support in this patient subgroup. (portlandpress.com)
Homozygous H63D mutations occur rarely and have the same phenotype as homozygous C282y cases. (msdmanuals.com)
With the exception of the extremely a computer simulation, we investigated rare mutations, only those individuals the effect on the population disease born to 2 gene carriers (heterozygotes or gene frequency and the frequencies of homozygotes) may develop thalassaemia heterozygous and homozygous individuals major. (who.int)

It is caused by a homozygous autosomal recessive mutation in the gene for microsomal triglyceride transfer protein (MTP). (medscape.com)
Tjernberg P, Castaman G, Vos HL, Bertina RM, Eikenboom JCJ: Homozygous C2362F von Willebrand factor induces intracellular retention of mutant von Willebrand factor resulting in autosomal recessive severe von Willebrand disease. (karger.com)
Inherited factor X deficiency is autosomal recessive, with heterozygotes most often remaining asymptomatic. (medscape.com)
The disorder is autosomal recessive, with a homozygous frequency of 1:200 and a heterozygous frequency of 1:8 in people of northern European ancestry. (msdmanuals.com)

If an allele makes one of these genes nonfunctional, or causes it to take on an abnormal, harmful activity, it may be impossible to get a living organism with a homozygous (or, in some cases, even a heterozygous) genotype. (khanacademy.org)
The underlying defect is a GAA trinucleotide repeat expansion in the X25 gene on chromosome 9 with 90% of those studied being homozygous for expanded alleles and over half of the remaining patients being compound heterozygotes, carrying one allele with a repeat expansion and the other with a point mutation. (bmj.com)
95% confidence interval (CI), 1.05-2.68] compared with individuals homozygous for the low-activity allele. (aacrjournals.org)
Surprisingly, the paternal delta and M2 alleles of Mash2 can rescue the lethality of a maternal null allele in 13 to 30% of trans heterozygotes. (geneimprint.com)
Heterozygote advantage for the phenylketonuria allele. (bmj.com)
Mean weight at birth of unaffected (normal homozygous and PKU heterozygous) offspring of parents heterozygous for the phenylketonuria (PKU) allele averages significantly above that of Norwegian neonates, with no significant difference in mean age of mothers or in mean parity. (bmj.com)
This near-optimal birthweight together with the possibly higher effective fertility observed in PKU heterozygous couples (at least in those who married before 1940), has apparently more than outweighed the disadvantages of the allele in PKU homozygous offspring as shown, for example, in an excessive number of pre- and perinatal deaths among the total offspring of PKU heterozygotes, to say nothing of the PKU survivors who, often, used to die young. (bmj.com)
This heterozygote advantage presumably explains the presence of the allele at frequencies above those to be expected from the simple replacement of a homozygously-lethal allele by mutation alone. (bmj.com)
In heterozygotes, then, the single mutant allele may actually protect against Alzheimer disease by preventing stable Aβ aggregates from forming, Tagliavini said. (alzforum.org)

Lethal alleles: alleles that prevent survival when homozygous or heterozygous. (khanacademy.org)
For the alleles that Mendel studied, it was equally possible to get homozygous dominant, homozygous recessive, and heterozygous genotypes. (khanacademy.org)
To avoid potential confounding by sample-to-sample differences in the quality and yield of RNA preparations, or by interindividual differences in trans -acting factors that influence the expression of CYP2A13 , we determined the relative expression of variant and wild-type (WT) CYP2A13 alleles in RNA samples from heterozygotes. (aspetjournals.org)
When the homologous chromosomes bear different alleles on the same loci, such an organism is referred to as heterozygote. (biologyonline.com)
Lethality of the new alleles as homozygous zygotic mutants is not completely penetrant, and they have an extended phenocritical period. (peerj.com)

The investigational anti-amyloid drug donanemab (Eli Lilly) has similar clinical efficacy in apolipoprotein E ε4 ( APOE4 ) heterozygous and homozygous carriers and noncarriers at high risk of Alzheimer's disease (AD), new data from the TRAILBLAZER-ALZ 2 study show. (medscape.com)
ABSTRACT We used computer simulation to determine variation in gene, heterozygous and homozygous frequencies induced by 4 different approaches to thalassaemia. (who.int)

Given the higher frequency of the variant, only compound heterozygotes were initially referred, allowing for optimization of hearing evaluation and surveillance algorithms before a planned expansion in early 2023 to include V37I homozygotes. (cdc.gov)

gem homozygous receptor mutant HCs display normal cell viability, afferent synaptogenesis, and peripheral innervation, yet exhibit strongly reduced extracellular potentials (∼50% of wild-type potentials). (jneurosci.org)
Lastly, if only one PCR product exists from the mutant primers, then the patient is homozygous for the mutation. (brighthub.com)
Mutant homozygous (G/G) mosquitoes expressed the wild-type (F/F) at position 1534. (biomedcentral.com)

Genotype analysis divided the patients with cystic fibrosis into three groups: AF508 homozygotes, AF508 heterozygotes and others. (portlandpress.com)
Heterozygotes are wild-type GFP+ mKate2+, and segregate wild-type GFP+ mKate2+, GFP+ non-mKate2 (gk5481 homozygotes), lethal non-GFP mKate2+ hT2 homozygotes (arrest stage unknown) and dead eggs (aneuploids). (umn.edu)
Heterozygotes are wild-type GFP+ mKate2+, and segregate wild-type GFP+ mKate2+, GFP+ non-mKate2 (gk5482 homozygotes), sterile Dpy non-GFP mKate2+ mT1 homozygotes, and large numbers of arrested aneuploid embryos. (umn.edu)

Although heterozygotes are usually asymptomatic, they exhibit decreased LDL cholesterol and apoB levels and possibly have a decreased risk of atherosclerosis. (medscape.com)

3] Nearly all patients with NBS are homozygous for the same founder mutation, ie, deletion of 5 bp (657del5) in the NBS1 gene, which encodes the protein nibrin. (medscape.com)
We also observed an embryonic lethality in homozygous deletion embryos. (geneimprint.com)
Apparent homozygous lethal or sterile deletion balanced over mKate2 tagged hT2. (umn.edu)
Homozygous lethal or sterile deletion as unbalanced heterozygote. (umn.edu)

Obligate heterozygotes (ie, parents of patients with ABL) have no symptoms and no evidence of reduced plasma lipid levels. (medscape.com)
To gain insight into the mechanisms responsible for enhanced thromboxane (TX) A2 biosynthesis in homozygous homocystinuria due to cystathionine-beta-synthase deficiency (CBSD), we measured a series of platelet and monocyte variables in 9 homozygous and 8 obligate heterozygous CBSD patients and evaluated their relationships to thromboxane formation, as reflected by urinary excretion of its major metabolite, 11-dehydro-TXB2 (TXM). (haematologica.org)

Of patients with clinical features of hemochromatosis, 83% are homozygous. (msdmanuals.com)
[ 2 ] Homozygous C282Y hemochromatosis is the cause of 85%-90% of cases of iron overload. (medscape.com)

A person with one influenced gene (passed down regarding both mother) commonly still most likely rating Huntington's problem given that good heterozygote. (ac.ir)
In the event that a dominating gene explanations a condition, good heterozygote may manifest the illness. (ac.ir)
When the an excellent recessive gene grounds a sickness, a good heterozygote will most likely not develop the disease or may have lower negative effects of it. (ac.ir)
Such as for instance, it is believed that are a great heterozygote on the sickle-cell anemia gene are somewhat defensive for malaria, in contrast getting to people who don't have an abnormal backup. (ac.ir)
However, for unknown reasons, phenotypic (clinical) disease is much less common than predicted by the frequency of the gene (ie, many homozygous people do not manifest the disorder). (msdmanuals.com)

Because of ARMS' ability to detect single nucleotide polymorphisms (SNPs) in heterozygote patients, the technique has been increasingly popular. (brighthub.com)

If a product is formed when the normal primers are used, then the DNA sample used came from a patient who is homozygous for the normal nucleotide. (brighthub.com)

These parental plants were homozygous for both traits but displayed different phenotypes. (jove.com)
The first generation of offspring were all dihybrids, heterozygotes exhibiting the two dominant phenotypes. (jove.com)

For example, if one parent is homozygous dominant for round and yellow seeds and the other is homozygous recessive for wrinkled and green seeds, all plants of the F1 generation area dihybrids, meaning that they're heterozygous for two traits. (jove.com)

Nous avons génotypé les deux polymorphismes mononucléotidiques du gène ADIPOQ chez 140 patients atteints de DNID sans lien de parenté et 66 témoins non diabétiques en recourant à l'analyse du polymorphisme de longueur des fragments de restriction par réaction en chaîne de polymérase. (who.int)

We argue that the observed process of chromosome sorting would, if continued, result in a new homozygous chromosomal race, i.e., in a new karyotype with intermediate chromosome number and, possibly, in a new incipient homoploid hybrid species. (frontiersin.org)
Very a lady is regarded as homozygous otherwise heterozygous from the an effective specific attribute to the X-chromosome. (ac.ir)

Homozygous APOE4 carriers, the smallest group in the trial, had "numerically smaller" treatment effects than heterozygotes or noncarriers, likely due to dose pauses or discontinuation due to amyloid-related imaging abnormalities (ARIA), but the data still favored treatment with donanemab. (medscape.com)

Heterozygotes will get genetic condition, nevertheless relies on the type of disease. (ac.ir)
But not, for recessive problems, particularly sickle cell anemia, heterozygotes do not get the disease. (ac.ir)
For most disease family genes, it will be possible you to being an excellent heterozygote offers a man specific masters. (ac.ir)

Babies homozygous for this variant, or heterozygous for this variant and a penetrant variant, are estimated to be at ~20% risk for congenital hearing loss and ~50% risk of developing moderate or more severe PHL by age 5. (cdc.gov)

Homozygous 1016G individuals survived at higher rates than either heterozygous or wild-type (1016 V) mosquitoes. (biomedcentral.com)

We test for a heterozygote advantage on other fitness components but find no evidence for heterosis for any of the inversions. (biomedcentral.com)

Interestingly, wild-type 1016 V mosquitoes tested were homozygous for the 1534C mutation, and all heterozygous mosquitoes were also heterozygous for 1534C. (biomedcentral.com)

Found as a heterozygote. (ithanet.eu)

They collected DNA samples and were surprised to find that their patient was homozygous for an alanine-to-valine substitution at position 673 of APP. (alzforum.org)
In a Japanese patient with factor X deficiency, molecular analysis revealed a homozygous glutamine-to-glycine mutation at residue 32, which normally undergoes gamma-carboxylation within the gamma-carboxyglutamic acid-rich domain. (medscape.com)

Heterozygotes for major chromosomal rearrangements such as fusions and fissions are expected to display a high level of sterility due to problems during meiosis. (frontiersin.org)

Both parents is aa: Each of their people might be aa as well (homozygous to have aa). (ac.ir)

More than 80% of cases are caused by the homozygous C282Y mutation or the C282Y/H63D compound heterozygote mutation. (msdmanuals.com)

DNA analysis showed he was homozygous for the FA repeat expansion. (bmj.com)

One to moms and dad is actually Aa and the other try aa: The youngster has a 50 % likelihood of being Aa (heterozygous) and you will a 50 % chance of getting aa (homozygous). (ac.ir)

Such nucleus, cell, or organism is also referred to as a heterozygote. (biologyonline.com)

That may protect heterozygotes from developing AD, said senior author Fabrizio Tagliavini of the Carlo Besta Neurological Institute in Milan. (alzforum.org)

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Diseases57

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