Allele normal homozygote. Medical search. Frequent questions

G M2 gangliosidosis, also known as adult chronic-type TSD is characterized by a pseudodeficiency mutation in one or both HEXA alleles. (medscape.com)
Sickle-cell disease one of the classical illustrations of heterozygote advantage, whereby those who carry one copy of the mutation on the gene have increased fitness vis-a-vis those who carry two normal copies of the gene. (discovermagazine.com)
MAIN COON HYPERTROPHIC CARDIOMYOPATHY (HCMMC): N / N - Homozygous for the normal allele (both copies of the MYBPC3 gene do not contain the A31P mutation). (mainecoon-russia.ru)
Genotype variants: N / N - Homozygous for the normal allele (both copies of the MYBPC3 gene do not contain the A31P mutation). (mainecoon-russia.ru)
N / HCMmc - Heterozygous for the mutant allele (one of the copies of the MYBPC3 gene contains the A31P mutation). (mainecoon-russia.ru)
HCMmc / HCMmc - Homozygous for the mutant allele (both copies of the MYBPC3 gene contain the A31P mutation). (mainecoon-russia.ru)
PIRUVATKINASE DEFICIT (PKDEF): N / N - Homozygous for the normal allele (both copies of the PKLR gene do not contain the mutation). (mainecoon-russia.ru)
k / k - Homozygote for the mutant allele (both copies of the PKLR gene contain the mutation). (mainecoon-russia.ru)
The patient carried homozygote mutation at the PNP gene that putatively led to aberrant splicing, allowing normal and abnormally spliced products from the mutant alleles. (tau.ac.il)
Association tests accounting for population structure and familial relatedness are consistent with a proposed model where these alleles are in linkage disequilibrium with a mutation or mutations that contribute to the BEW phenotype and to individual differences in fleece color. (datadryad.org)
Our data indicate, for the first time, a requirement for MAPK signaling in the developing XY gonad in order to facilitate normal expression of SRY and the downstream testis-determining genes and also suggest that reduced dosage of MAP3K4 may be the cause of a previously described autosomal sex-reversing mutation in the mouse. (plos.org)
Autosomal recessive means that a trait is carried on »non-sex« chromosome (autosome) and that a trait is expressed only when both alleles (inherited from mother and father) are damaged (contain detrimental mutation). (eurovetgene.com)
Autosomal dominant inheritance means that a trait is carried on »non-sex« chromosome (autosome) and that a trait is expressed when one of alleles (inherited either mother or father) is damaged (contains detrimental mutation). (eurovetgene.com)
In this case, during the preclinical work-up, following mutation analysis of the CYP21A2 gene, both partners were found to be homozygotes for the nucleotide (nt) 656 A-C?G mutation, without showing any clinical signs of the disease. (preimplantationgeneticdiagnosis.eu)
Such imbalances stem from under- or over-expression of a subunit of a complex consequent to a deletion, duplication or regulatory mutation of an allele encoding the relevant protein. (biomedcentral.com)
To gain insight into the biochemical bases of the effects of stoichiometric imbalances, we explore the consequences of under- or over-expression of a subunit of a complex due, for instance, to a deletion, duplication or regulatory mutation of an allele encoding the relevant protein in a diploid organism. (biomedcentral.com)

The I1307K allele of the APC gene was detected by amplification of DNA isolated from peripheral blood according to standard polymerase chain reaction (PCR) and dot blot procedures. (nih.gov)
Certain alleles of this gene have been statistically associated with an increased risk of developing late-onset Alzheimer's disease. (wikipedia.org)
Our study has shown that the HFE gene mutations are common in Egypt among -thalassaemia carriers compared with normal controls. (who.int)
Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
About 15 years ago, he and colleagues launched a longitudinal study to address these questions using brain volume and glucose metabolism measurements, clinical ratings, and neuropsychological tests to assess cognitively normal people whose AD risk varied according to their ApoE4 gene dose. (alzforum.org)
The increase in frequency of the mutant gene though is balanced by the fact that mutant homozygotes have decreased fitness. (discovermagazine.com)
One set of chromosomes is inherited from each parent, therefore mammals have two copies (alleles) of every gene. (dvm360.com)
Here, we capitalized on blood samples from CU late middle-aged and older adults with two, one, or no copies of the apolipoprotein E ( APOE ) ε4 allele, the major AD susceptibility gene, who have been followed in the longstanding longitudinal Arizona APOE Cohort Study. (biomedcentral.com)
In that gene, the DNA occurs in two possible forms (or alleles). (collie-online.com)
White spotting patterns in mammals can be caused by mutations in the gene KIT, whose protein is necessary for the normal migration and survival of melanocytes from the neural crest. (datadryad.org)
Some persons inherit the mutant gene but are phenotypically normal. (viquepedia.com)
In autosomal dominant disorders, a 50% reduction in the normal gene product is associated with clinical signs and symptoms. (viquepedia.com)
Such variants of certain gene that lie on the same genomic locus are called - alleles. (eurovetgene.com)
There can be many different alleles (variants of the same gene) in a population of individuals. (eurovetgene.com)
However, studies show that those who hold the heterozygotes hemoglobin S gene and carry the HBB allele and one abnormal hemoglobin allele have more resistance for malaria than those who hold the recessive homozygotes hemoglobin gene (Hb SS) (Mkombachepa et al. (academicfinest.com)
They are possibly alleles, but they can also be members of the same gene cluster. (hiiret.fi)
Studies with the CHRNA4, CHRM2, DBH, BDNF and COMT gene variants in our laboratory have shown associations between gene variants and working memory accuracy and/or visuospatial attention in normal healthy adults. (gmu.edu)
For the ADRA2A gene, participants with ADRA2A rs553668 T allele generally performed poorly. (gmu.edu)
If expression of a trait requires only one copy of a gene (one allele). (msdmanuals.com)

Codon 129 on the normal allele further modifies the FFI phenotype determining patient subpopulations of 129 homozygotes and heterozygotes: disease duration is generally shorter, insomnia more severe and histopathology more restricted to the thalamus in the homozygotes than in the heterozygotes. (nih.gov)
There is no distinguishable difference between the affected phenotype of the heterozygote and homozygote (exception- see co-dominant). (dvm360.com)
Recessive inheritance means that defect in father and mother allele are needed for expression certain phenotype (properties that can be seen or measured). (eurovetgene.com)
Dominant inheritance means that defect of only one allele (either fathers or mothers) are needed for expression of certain phenotype. (eurovetgene.com)
It is especially important to test such animals for mutations, since mutated alleles are »silently« (without seeing unwanted phenotype) carried through the population and therefore enable out breeding of such mutations from population. (eurovetgene.com)

If a condition is inherited in a dominant fashion, but homozygotes are affected to a greater degree than heterozygotes the inheritance pattern is considered co-dominant or semi-dominant. (dvm360.com)
Plasma NfL concentrations were measured in 543 CU 69 ± 9 year-old participants in the Arizona APOE Cohort Study, including 66 APOE ε4 homozygotes (HM), 165 heterozygotes (HT), and 312 non-carriers (NC). (biomedcentral.com)

Heterozygous individuals inherit one abnormal and one normal allele which can make the functional protein. (dvm360.com)
Absence of normal homozygotes for these mutations and absence of normal horses which were heterozygous for these mutations indicated that these alleles caused dwarfism in those genotypes. (uky.edu)
In addition, women and girls may have excessive bleeding requiring treatment simply because they are heterozygous for haemophilia alleles. (cdc.gov)
Women and girls who are homozygous, compound heterozygous or hemizygous clearly have haemophilia, as they do not have a normal allele. (cdc.gov)

Homozygotes for null allele is embryonic lethal, and show brain hemorrhage and neural tube defects. (jax.org)

Large insertions and deletions have given rise to four structurally variant genes and some alleles may extend up to 160 kb and 9 additional exons. (wikipedia.org)
Normal products of all 3 genes are required for normal catabolism of the G M2 ganglioside substrate. (medscape.com)
Rn fl has following information: "white hairs are randomly distributed and to the extent that the coat is lightened" in homozygote and "white hairs are randomly distributed and mice appear variegated, the amount of unpigmented hair increases with age, variegation may be influenced by modifier genes" in heterozygote forms. (hiiret.fi)
Finally, we'll take a quick look at sex-linked genes, lethal alleles, and non-nuclear inheritance (mtDNA and chloroplast DNA). (biologydictionary.net)
Common single nucleotide polymorphisms (SNPs) in genes involved in lipid metabolism are potentially important genetic markers in affecting normal variation in the plasma or serum lipid profiles and thus determining susceptibility or resistance to CHD in the general population. (biomedcentral.com)

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)
The allelic origin of PrPres fails to explain this finding since in both cases FFI PrPres is expressed only by the mutant allele. (nih.gov)
Therefore, cats with one copy of the mutant allele are 1.8 times more likely to develop cardiomyopathy than cats with the normal allele. (mainecoon-russia.ru)
And cats with two copies of the mutant allele - 18 times than cats for the normal allele and 10 times than cats with one copy of the mutant allele. (mainecoon-russia.ru)

Although most heterozygote are normal and fertile, at low frequency, growth retardation and small head are also reported. (jax.org)
Note: absence of allele frequency data leaves this as a possible ambiguous flip. (snpedia.com)
Natural selection quickly increases in frequency any alleles which confer protection against the exogenous stress. (discovermagazine.com)
The allele frequency was 3.5% in the normal Tunisian population. (who.int)

All participants had a family history of AD, along with either two (n = 8), one (n = 8) or no (n = 12) copies of the ApoE4 allele. (alzforum.org)
Here, we characterized and compared plasma NfL concentrations in cognitively unimpaired (CU) late-middle-aged and older adults with two, one, or no copies of the APOE ε4 allele, the major genetic risk factor for AD. (biomedcentral.com)

Non-amplification of the normal allele at nt656 is a known phenomenon described in asymptomatic carriers (Day et al. (preimplantationgeneticdiagnosis.eu)
1999). These putative nt656 G/G individuals are incorrectly typed due to drop-out of the normal allele during PCR amplification. (preimplantationgeneticdiagnosis.eu)

Diseases with a dominant mode of inheritance only require one affected allele to express the trait. (dvm360.com)
While normal modes of Mendelian inheritance can redistribute traits and varieties, non-Mendelian genetics can add even more variety and complexity to living organisms. (biologydictionary.net)

Alternate allele-specific splice variants, encoding different isoforms, have been characterized. (wikipedia.org)

H63D, S65C and C282Y allele frequencies were 30.5%, 13.4% and 7.3% respectively in -thalassaemia carriers and 10.0%, 2.5% and 0.0% respectively in the control group. (who.int)
The 'drift' idea claims that random events cause allele frequencies to change over time and in extreme cases, 'drift' is seen eliminating or fixing certain alleles in the whole population. (nonlin.org)

Mating an affected to a normal homozygous individual will result in all offspring that appear normal, but all offspring will be carriers. (dvm360.com)

Wild type mule deer are serine (S) homozygotes at codon 225. (carroll.edu)

Breeding two carriers results in approximately 25% normal, 50% carrier and 25% affected offspring. (dvm360.com)
The lower lane shows the profile of a carrier embryo (embryo 5), presenting both the affected and the normal haplotype. (preimplantationgeneticdiagnosis.eu)

The normal and dwarf morphs of this fish are a clear example of ongoing ecological speciation, and body size plays an important role in this speciation event as a magic trait. (biomedcentral.com)

There may also be normal protein produced by the normal allele, but this may be insufficient for normal function. (dvm360.com)
The normal protein may act to suppress inappropriate recombination. (utsouthwestern.edu)
The role of the polyalanine tract in normal PABPN1 protein function is unknown. (medlineplus.gov)

In individuals with PiSS, PiMZ and PiSZ phenotypes, blood levels of AAT are reduced to between 40 and 60 % of normal levels. (the-medical-dictionary.com)

Thus, up to four alleles for any particular locus could have been present. (creation.com)

Approximately half the offspring of a heterozygote will be inherit the affected allele and show disease. (dvm360.com)
We suggest that the aberrant slice site was used preferentially over the normal slice site in some cells correlating with the severity of disease. (tau.ac.il)
There are three possible genetic combinations in population of such individuals: normal homozygote (carrying two normal alleles), affected homozygote (carrying two mutated alleles), affected heterozygote (carrying normal and mutated allele), since only single mutated allele already causes a disease. (eurovetgene.com)
Disease manifests only in homozygotes. (msdmanuals.com)
Although the lungs are generally histologically normal at birth, most patients develop pulmonary disease beginning in infancy or early childhood. (msdmanuals.com)

STR alleles linked to the paternal and maternal mutations are represented in boldface. (preimplantationgeneticdiagnosis.eu)
We successfully mapped the location of two loci with infertility alleles, one inherited from the paternal clone (Iinb1) and the other from the maternal clone (Xinb3). (biomedcentral.com)

Essentially, any traits that do not have alleles showing complete dominance or are inherited in unique patterns are part of non-Mendelian genetics. (biologydictionary.net)

Also, although there were only two humans, Eve may have carried alleles in her egg cells that differed from those in her body. (creation.com)
For humans, a maximum of 10 alleles could have made it through unless Noah's sons carried mutations. (creation.com)
These data demonstrate that MAP3K4-dependent signalling events are required for normal expression of Sry during testis development, and create a novel entry point into the molecular and cellular mechanisms underlying sex determination in mice and disorders of sexual development in humans. (plos.org)

The combination of alleles associated with low DBH enzyme activity (DBH rs1611115 TT + DBH rs1108580 AA), and hence more dopamine, were the best performers in match trials. (gmu.edu)

But, baked into the cake of how genetics in complex organisms usually works, one allele may often have multiple downstream consequences. (discovermagazine.com)

A population genetics study suggested that the dwarf morph had evolved independently from the normal morph in these areas [ 17 ]. (biomedcentral.com)

This allows organisms survival in case one allele is damaged (mutated). (eurovetgene.com)

but homozygotes for a cre mediated recombinant allele are viable Bloom syndrome-like mice prone to a wide variety of cancers and showing increased rates of LOH. (utsouthwestern.edu)

Homozygosis means that individual carries two alleles that are completely identical (DNA sequence), while heterozygosis means that individual carries two alleles that are different (DNA sequence). (eurovetgene.com)
A phenotypic female with a low level of factor VIII or factor IX may be classified into one of the following categories of causality: homozygosity (two identical haemophilia alleles), compound heterozygosity (two different haemophilia alleles), hemizygosity (one haemophilia allele and no normal allele), heterozygosity (one haemophilia allele and one normal allele), genetic causes other than haemophilia and non-genetic causes. (cdc.gov)

Our findings of increased serum t3 level with the APC I1307K allele in prostate cancer patients is not surprising, given the mitogenic potential of t3. (nih.gov)
The findings suggest that "fibrillar amyloid deposition in cognitively normal older people may be related to risk of AD," Reiman said. (alzforum.org)
The new findings using PIB-PET strengthen the case for prevention studies that use biomarkers to evaluate promising amyloid-modifying treatments in at-risk, cognitively normal adults who are approaching their estimated age of clinical onset. (alzforum.org)

Eleven males carrying the APCI 1307K allele had significantly higher serum t3 levels than 66 males carrying the wild type allele. (nih.gov)
None of the males had a t3 level that was above the normal range for our laboratory (137 ng/dl). (nih.gov)
The normal morph has a large body size [the body size differs somewhat among populations, and in Wonzye, Zambia (Fig. 1 d), ranges between 56.4 and 75.7 mm in standard length (SL) in adult males and 33.4-53.1 mm SL in adult females] [ 14 ]. (biomedcentral.com)

These results show a high sensitivity of tissue membranes to dietary variations in the PUFA-supply within the normal range, strongly favoring incorporation of n-3 LC-PUFA over LA and AA. (bioseek.eu)

Five subjects were PiYM, with intermediate serum AAT concentrations and normal pulmonary function. (the-medical-dictionary.com)

Two microsatellite alleles at KIT-related markers were significantly associated (P (datadryad.org)

84 cases of oesophageal cancer (25 squamous and 59 adenocarcinoma) and 152 normal population controls were genotyped for this polymorphism. (tcd.ie)
There are three possible genetic combinations in population of such individuals: homozygotes that carry two normal alleles, homozygote that carry two mutated alleles and heterozygote that carry normal and mutated allele. (eurovetgene.com)
or, in an already large population, the allele loss is highly unlikely due to random events not scaling up with the population size. (nonlin.org)
The subjects were un- ers of the factor V 1691A allele have been related to the patients and were taken to shown to have an increased risk for venous represent the general Tunisian population. (who.int)
the normal population [ 1 ]. (who.int)

Low-dose folic acid supplementation for eight weeks for the TT genotype people led to a significant 2.1 micromoles per litre reduction in homocysteine levels, and 1.4 micromoles per litre for people who carry the T-allele either hetero- or homozygously. (nutraingredients-usa.com)

The number of CR1 molecules decreases with aging of erythrocytes in normal individuals and is also decreased in pathological conditions such as systemic lupus erythematosus (SLE), HIV infection, some haemolytic anaemias and other conditions featuring immune complexes. (wikipedia.org)
In a larger cohort of 171 related individuals we identify an abundance of an allele (bew1) in grey animals and the occurrence of bew2 homozygotes that are solid white with pigmented eyes. (datadryad.org)

Having one copy of the ApoE4 allele boosts AD risk about threefold, and ApoE4 homozygotes face a 10-fold or greater risk than do non-carriers. (alzforum.org)

People with the so-called TT homozygote genotype with low folate status are reported to have higher homocysteine concentrations than the other genotypes, putting this subset at increased risk of CAD and cognitive decline. (nutraingredients-usa.com)

However, folic acid supplements do not seem to lower plasma homocysteine in patients with CAD with normal plasma homocysteine level. (nutraingredients-usa.com)
Postoperatively, the patients were divided into three groups: normal appendix (no AA), simple AA and complicated AA.Results. (bvsalud.org)

Normal blood levels of alpha-1 antitrypsin are 1.5-3.5 gm/l. (the-medical-dictionary.com)

Flanking and intragenic markers employed for the association analysis with KIT, their product size in numbers of base pairs, number of alleles detected and their position in KIT or in relation to KIT. (datadryad.org)
Numbers next to each peak represent the size of the allele (in bp). (preimplantationgeneticdiagnosis.eu)

This could be due to the removal of the spleen or the destruction of blood cells both infected with the parasite along with normal blood cells which exacerbates the anemia (Mwaiswelo et al. (academicfinest.com)

in all cases there was loss of the AT allele. (tcd.ie)

Additional allele specific isoforms, including a secreted form, have been described but have not been fully characterized. (wikipedia.org)

DBH rs1108580 AG performed better than the two homozygotes and older adults benefitted from carrying the DBH rs1611115 T allele. (gmu.edu)
The T+ allele might influence the ability to shift attention in older adults, causing a bigger drop in performance compared to young adults as load increased. (gmu.edu)

No evidence of crossing-over between Rn and Fkl has yet been found, but owing to normal overlapping by Rn and variability of Rn/+ Fk1/+ this evidence would be difficult to obtain. (hiiret.fi)

Normal dimerization is required for secretion of factor XI from the producing cell. (medscape.com)

Anatomy5

Organisms11

Diseases31

Chemicals and Drugs74

Analytical, Diagnostic and Therapeutic Techniques and Equipment36

Psychiatry and Psychology3

Phenomena and Processes89

Disciplines and Occupations2

Anthropology, Education, Sociology and Social Phenomena1

Information Science5

Named Groups7

Health Care17

Geographicals7

Mutation16

Gene19

Phenotype5

Heterozygotes2

Heterozygous4

Null allele1

Genes5

Mutant4

Frequency4

Copies2

Amplification2

Inheritance2

Variants1

Frequencies2

Homozygous1

Codon1

Carrier2

Trait1

Protein3

Phenotypes1

Locus1

Disease5

Paternal2

Traits1

Humans3

Enzyme1

Downstream1

Genetics1

Organisms1

Mice1

Identical2

Findings3

Males3

Strongly1

Serum1

Significantly associated1

Population5

Carry1

Individuals2

Carriers1

Risk1

Patients2

Levels1

Size2

Anemia1

Cases1

Specific1

Adults2

Found1

Factor1