Recessive mutant. Medical search. Frequent questions

Most novel mutations are at least partly recessive, and inbreeding should accentuate their negative effects. (discovermagazine.com)
Conversely, people of mixed ancestry should show the benefits of concealing recessive mutations. (discovermagazine.com)
Unlike recessive mutations, dominantly inherited KATP mutant subunits trafficked normally to the plasma membrane when expressed in COSm6 cells. (jci.org)
The collagen defects result from dominant mutations, requiring only one copy of a mutant gene to cause bone disease. (nih.gov)
The NIH researchers discovered that mutations in the CRTAP gene accounted for a recessive form of the disorder - requiring two copies of the affected gene to show a particular trait. (nih.gov)
Autosomal recessive mutations in the HBB gene, which encodes the ß-globin subunit of adult hemoglobin, cause SCD. (stjude.org)
A. With these findings we communicate the first Chinese SEPSECS mutant case, and our report indicates that SEPSECS mutations can give rise to a milder phenotype. (frontiersin.org)
X-linked hypophosphatemic rickets and autosomal recessive hypophosphatemic rickets are the result of mutations in PHEX (a phosphate-regulating gene with homologies to endopeptidases on the X chromosome) and dentin matrix protein 1 ( DMP1 ), respectively. (medscape.com)
Type IB is caused by recessive mutations of the diastrophic dysplasia sulfate transporter gene ( SLC26A2 ), and type II is caused by autosomal dominant mutations of the type II collagen gene ( COL2A1 ). (medscape.com)
Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). (lu.se)
Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease. (lu.se)
Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. (lu.se)
Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox). (lu.se)

Approximately 98% of mutant alleles have an expansion of a gossypol acetic acid (GAA) trinucleotide repeat in intron 1 of the gene, leading to reduced levels of frataxin. (medscape.com)
Heterosis , whether through heterozygote advantage or the masking of recessive deleterious alleles. (discovermagazine.com)
Note that males are homozygous for mutant alleles because the gene is on the X chromosome) [ OMIM 300502 ]. (blogspot.com)
When both mutant alleles are present the patient does not survive. (blogspot.com)
Autosomal Recessive Inheritance is basically the opposite of autosomal dominant.Recessive alleles only change the phenotype when there is no dominant allele present. (handlebar-online.com)
His younger sister, who now suffers from mild cognitive impairment as well, also had two mutant alleles. (alzforum.org)
S and G represent mutant resistant alleles (serine) and wild-type alleles (glycine), respectively. (cdc.gov)
Although harboring different mutant alleles, patients presented remarkably similar phenotypes typified by an autosomal recessive progressive microcephaly with profound developmental delay, progressive brain atrophy, and hypotonia ( 6 , 7 , 9 ). (frontiersin.org)

To our knowledge this is the first case of an initiation codon mutation in a human crystallin gene, and only the second report of a CRYBB1 mutation associated with autosomal recessive congenital cataracts. (molvis.org)

The inheritance pattern for hemoglobinopathies is autosomal-recessive (a mendelian pattern). (medscape.com)
What is the difference between autosomal dominant and autosomal recessive inheritance? (handlebar-online.com)
Autosomal dominant: A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes. (handlebar-online.com)
There are five basic modes of inheritance for single-gene diseases: autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive, and mitochondrial. (handlebar-online.com)
In the two sets of parents who were available for genetic testing, each parent carried one mutant CRTAP gene and one normal CRTAP gene, the classical pattern of recessive inheritance. (nih.gov)
For a long time, autosomal recessive inheritance has been considered a unique feature of type 3 von Willebrand disease (VWD), which is characterized by the virtual absence of von Willebrand factor (VWF) in plasma and storage compartments. (karger.com)
We report our experience with 12 families with clearly recessive inheritance, but definitely measurable factor VIII and VWF, which is not typical for severe type 3 VWD. (karger.com)
Eikenboom JCJ, Reitsma PH, Peerlinck KMJ, Briët E: Recessive inheritance of von Willebrand's disease type I. Lancet 1993;341:982-986. (karger.com)
This newly identified variant is the first to be reported to act in a recessive mode of inheritance in this gene. (bmj.com)

In addition, although a number of genetic causes of autosomal dominant pulverulent cataracts have been identified (including CRYBB1 ) this is the first gene to have been implicated in autosomal recessive nuclear pulverulent cataract. (molvis.org)

FA is an autosomal recessive disorder caused by a mutation and abnormal expansion of a GAA repeat in intron 1 of the FXN gene, which is located on chromosome 9. (medscape.com)
Genetic analysis revealed that each mutation was recessive and resided in different loci. (usda.gov)
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. (nature.com)
In order to further delineate the molecular pathology of autosomal recessive cataracts, we investigated a consanguineous family with nuclear pulverulent cataracts and identified a novel germline CRYBB1 mutation. (molvis.org)
Scientists have discovered a recessive mutation in β amyloid precursor protein that causes early onset Alzheimer disease in two siblings from a small south Italian village. (alzforum.org)
Genetic analysis with reciprocal crosses between tiller mutants and wild-type plants revealed that mutants possess a recessive mutation in a single locus, termed Monoculm 1 ( MOC1 ). (the-scientist.com)
Castaman G, Novella E, Castiglia E, Eikenboom JCJ, Rodeghiero F: A novel family with recessive von Willebrand disease due to compound heterozygosity for a splice site mutation and a missense mutation in the von Willebrand factor gene. (karger.com)
Castaman G, Bertoncello K, Bernardi M, Eikenboom JC, Budde U, Rodeghiero F: Autosomal recessive von Willebrand disease associated with compound heterozygosity for a novel nonsense mutation (2908 del C) and the missense mutation C2362F: definite evidence for the non-penetrance of the C2362F mutation. (karger.com)

Is i* dominant or recessive? (wikiversity.org)
These data highlight distinctive features of dominant KATP hyperinsulinism relative to the more common and more severe recessive form, including retention of normal subunit trafficking, impaired channel activity, and a milder hypoglycemia phenotype that may escape detection in infancy and is often responsive to diazoxide medical therapy, without the need for surgical pancreatectomy. (jci.org)
In parallel, we are designing viral mediated therapies for autosomal dominant and recessive retinal degnenerations. (berkeley.edu)
In that case it is not a dominant "lethal" so it must be a recessive "lethal. (blogspot.com)
Is BRCA1 autosomal dominant or recessive? (handlebar-online.com)
It deduces that the mutant allele (w) of the gene responsible for eye colour is recessive, and the wildtype allele (W⁺) is dominant. (edumedia-sciences.com)
CT vs. TT: OR = 0.92, 95% CI = 0.80-1.06, P = 0.28), recessive model (CC vs. TT+TC: OR = 0.96, 95% CI: 0.80-1.16, P = 0.69), or dominant model (TC+CC vs. TT: OR = 0.93, 95% CI = 0.76-1.15, P = 0.51). (cdc.gov)

Suggest a property of the mutant repressor that would explain this phenotype. (wikiversity.org)
Several mutant genes have been identified in ARCI, but the association between genotype and phenotype is poorly understood. (bmj.com)
Heterozygous individuals do not show the phenotype of the recessive allele, but can pass this allele on to their offspring. (handlebar-online.com)
One of these lines presents the 'wildtype' phenotype with red eyes and the other with the 'mutant' phenotype with white eyes. (edumedia-sciences.com)
Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients. (lu.se)

Offspring of patients with FA all inherit one mutant allele from the affected parent. (medscape.com)
Thus the allele is a homozygous lethal but not a "recessive" lethal. (blogspot.com)
Family members with only one mutant allele provided additional test subjects. (alzforum.org)
It is not known how common the A673V mutant allele is, Tagliavini said, although he suspects it is rare. (alzforum.org)
In heterozygotes, then, the single mutant allele may actually protect against Alzheimer disease by preventing stable Aβ aggregates from forming, Tagliavini said. (alzforum.org)

Primary Hemochromatosis is an autosomal recessive genetic disease, meaning a child must inherit a mutated HFE gene from both parents to develop the disease. (wikibooks.org)
Genetic testing may be used to check for the mutant gene - not everyone who has the two required mutant genes will develop symptoms or side effects. (wikibooks.org)
Induced changes in the genetic architecture of some macro mutants of jute. (scialert.net)
Genetic screening is an advanced tool for reducing recessive disease burden. (mdpi.com)
Eikenboom JCJ, Castaman G, Vos HL, Bertina RM, Rodeghiero F: Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin. (karger.com)
Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia. (lu.se)

Additionally, it can knock out genes, facilitating efforts to elucidate gene functions through the analysis of mutant phenotypes. (mdpi.com)
Over the long term one assumes that 'better solutions' will emerge which do not have so high a fitness drag, perhaps through the evolution of modifier genes which mask the deleterious outcomes of the initial mutant. (discovermagazine.com)
Sickle cell anemia is a homozygous-recessive disorder, that is, the individual receives two mutant genes that code for the variant beta globin chain. (medscape.com)
Most of the mutant genes turned out to be recessive. (duke.edu)
The hypothesis was that there must be one or more recessive genes causing something that looked like OI," she said. (nih.gov)

FA is an autosomal recessive spinocerebellar disorder that has a slow but relentlessly degenerative course. (medscape.com)
Mice homozygous for the mutant autosomal recessive gene, quaking (qk), associated with disorder in myelin formation and manifested by axial tremors. (harvard.edu)
ABSTRACT Sanjad Sakati syndrome is a rare autosomal recessive disorder that has been described in Arabs. (who.int)
Sanjad Sakati syndrome or hypoparathyroidism-retardation-dysmorphism (HRD) is an autosomal recessive disorder that was first described in 1988 [1]. (who.int)
Spinal muscular atrophy (SMA) is an autosomal recessive disorder predominately caused by bi-allelic loss of the SMN1 gene. (cdc.gov)

To date, most gene therapies have targeted monogenic recessive retinal diseases and employed viral vectors to transfer a 'normal ' copy of the mutated gene to the affected cell. (berkeley.edu)
A new monogenic recessive liy ligon-lintless fiber mutant: a tool for understanding the genetics and physiology of cotton fiber development. (cotton.org)

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)
Affected people are homozygous for the mutant recessive gene, located on chromosome 13. (msdmanuals.com)

In many patients of these families with recessive VWD, molecular basis studies have provided insights into the molecular mechanisms responsible for the heterogeneity of phenotypes. (karger.com)

In this study we report the identification and characterization of M. truncatula mutants with increased calcium oxalate content. (usda.gov)
Development and Characterization of an Ethyl Methane Sulfonate (EMS) Induced Mutant Population in Capsicum annuum L. (mdpi.com)
Robben, J.H., Knoers, N.V. & Deen, P.M. Characterization of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus in a polarized cell model. (nature.com)

Another promising strategy for dominantly inherited retinal diseases involves directly targeting the mutant mRNA product using Talens, CRISPR , and siRNA constructs. (berkeley.edu)

A naturally occurring mutant whose genetics have been studied and are fully reproducible. (georgesteinmetz.com)
We completed a forward mutagenesis screen and recovered several mutant lines that serve as important tools for genetics in this model. (bvsalud.org)

Using synthetic peptides and laser light scattering to measure clumping, they found that the mutant peptide aggregated faster than wild-type. (alzforum.org)
To answer their questions, the scientists mixed mutant and wild-type peptides to simulate heterozygous conditions. (alzforum.org)

Salamon, T. Über eine Familie mit recessiver Kraushaarigkeit, Hypotrichose und anderen Anomalien [On a family with the recessive trait of woolly hair, hypotrichosis and other anomalies]. (nature.com)
Snell's Dwarf" strain: DW/J. These two are siblings, with big one having the trait single recessive, and dwarf having it double recessive. (georgesteinmetz.com)

For recessive null diseases, gene replacement is an option. (berkeley.edu)
In contrast, autosomal recessive diseases require that the individual have two copies of the mutant gene. (handlebar-online.com)

Size changes of protamine 1 mRNA provide a molecular marker to monitor spermatogenesis in wild-type and mutant mice. (harvard.edu)

Scholars@Duke publication: Isolation of suppressor mutants of phosphatidylinositol 3-phosphate 5-kinase deficient cells in Schizosaccharomyces pombe. (duke.edu)
Proton magnetic resonance in myelin deficient brains of mutant mice. (harvard.edu)

recessive lethal? (blogspot.com)
She estimated that the recessive form of OI that she and her coworkers described in the current paper might occur in 2-3 percent of lethal OI cases. (nih.gov)

In a second round, he crosses the individuals of the F1 generation and notices that in the F2 generation, the recessive characteristic reappears in 25% of the descendants. (edumedia-sciences.com)
Several will serve as useful viable recessive markers for marking crosses. (bvsalud.org)

Transgenic animal models expressing rhodopsin glycosylation mutants also exhibit light exacerbated retinal degeneration (RD). In this study, we used transgenic Xenopus laevis to investigate the pathogenic mechanism connecting light exposure and RD in photoreceptors expressing T4K or T17M rhodopsin. (jneurosci.org)

Mutant Fibulin-3 Causes Proteoglycan Accumulation and Impaired Diffusion Across Bruch's Membrane. (mayo.edu)

Hence, the disease becomes symptomatic over the first six months of life, coincident with the switch from normal fetal hemoglobin to mutant adult-type sickle hemoglobin. (stjude.org)

The Jackson lab breeds mice for the traits it wants, and these varieties were discovered as mutants in naturally occurring litters of mice. (georgesteinmetz.com)

I'm assuming the crap they're putting into the water, food and drink is also suppressing the ability of new mutants to manifest their abilities. (stackexchange.com)

Mutant Best1 Expression and Impaired Phagocytosis in an iPSC Model of Autosomal Recessive Bestrophinopathy. (mayo.edu)
Genotypic odds ratios (ORs) are shown because these exceed allelic ORs for DDT (recessive model), bendiocarb, and fenitrothion (both overdominant models), and are similar for permethrin and deltamethrin. (cdc.gov)

In cultured neuroblastoma cells, the mixture of mutant and wild-type Aβ1-42 was less toxic than either alone. (alzforum.org)
Approximately 85 percent of cells survived 24 hours with the peptide cocktail, compared to 80 percent for wild-type and 70 percent for mutant. (alzforum.org)
The mutant hexapeptide bound more tightly to wild-type Aβ than the normal hexapeptide did. (alzforum.org)
Functional analysis showed that mutant protein alone failed to produce functional channels, while coexpression with wild-type produced no effects on K+ currents, similar to wild-type protein alone. (bmj.com)
Importantly, the mutant kissylips lays embryos at twice the rate of wild-type. (bvsalud.org)

Did something cause the mutant gene to disappear from occurring naturally in humans? (stackexchange.com)
So what caused the mutant gene to disappear completely from occurring naturally in humans? (stackexchange.com)

Because of a rigorous statistical method over a large population of flies, Morgan studied the crossing of wildtype females with red eyes with mutant males with white eyes (parental generation P). (edumedia-sciences.com)
These results are confirmed with the laws established by Mendel, but there is a difference: The individuals of the F2 generation that present the recessive characteristic are all males. (edumedia-sciences.com)

When araC mutants were first anaylzed, people concluded that AraC protein acts as an activator, not a repressor. (wikiversity.org)
In this study, we tested the role of an uncharacterized ER protein, PfGRP170, in regulating these key functions by generating conditional mutants. (cdc.gov)

Nor-Carotenoid, Rhizobium lupini The mutant strain 1-289 of Rhizobium lupini containes in addition to the normal carotenoid pattern a violet carotenoid whose structure was derived by MS and 270 1 H-NMR as 2′,3′-trans-dihydroxy-2-nor-β,β-carotene-3,4-dione. (degruyter.com)
It's not that they're not being born, it's that mutants are simply leading normal lives. (stackexchange.com)

The trimolter-B exhibited less distinct differences in FL content than the trimolter-A. These patterns of haemolymph proteins in the allatectomy-induced trimolters were similar to those of the recessive trimolter mutant rt. (elsevierpure.com)
Another similar mutant characterized in this study, cod 4, was isolated in a previous screen [Nakata and McConn, 2001]. (usda.gov)

It is our hope that the information gained through the analysis of these mutants will be applicable toward future efforts to improve the production and nutritional content of plant foods. (usda.gov)

In each mutant the increase in calcium oxalate content resulted from an increase in druse crystal deposition in the mesophyll cells of leaves. (usda.gov)
The mod mutants were isolated by visually screening leaves from an ethyl methanesulfonate (EMS) mutagenized M. truncatula population [Penmetsa and Cook, 2000] using a light microscope and partially polarized light for increased druse crystal abundance in the mesophyll cells. (usda.gov)
Suppressor mutants for sterility of ste12Delta cells were screened for. (duke.edu)
Transfected Chinese hamster ovary and COS-7 (green monkey kidney fibroblast) cells also secreted more Aβ when expressing the mutant APP, with cleavage products including Aβ1-40 and Aβ1-42 as well as Aβ11-40, Aβ11-42, and pyroglutamate AβN3pE-42. (alzforum.org)

Combining frequent egg collection with the kissylips mutant background allows for a substantial enhancement of early embryo yield. (bvsalud.org)

There is a 25% chance of this occurring if both parents carry one mutant gene. (wikibooks.org)

These plants were referred to as mesophyll oxalate defective (mod) mutants. (usda.gov)

Anatomy10

Organisms17

Diseases14

Chemicals and Drugs38

Analytical, Diagnostic and Therapeutic Techniques and Equipment23

Psychiatry and Psychology1

Phenomena and Processes74

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Information Science3

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Mutations13

Alleles8

Associated with autosomal recessive1

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Mutation8

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Allele5

Genetic6

Genes5

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Monogenic recessive2

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ACCUMULATION1

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