• A null allele cannot be distinguished from deletion of the entire locus solely from phenotypic observation. (wikipedia.org)
  • A genetic null or amorphic allele has the same phenotype when homozygous as when heterozygous with a deficiency that disrupts the locus in question. (wikipedia.org)
  • A microsatellite null allele is an allele at a microsatellite locus that does not amplify to detectable levels in a polymerase chain reaction test. (wikipedia.org)
  • One locus exhibited a high-frequency nonamplifying allele localized to a single population. (escholarship.org)
  • These molecular dissections revealed that the original failure to amplify some alleles from this microsatellite locus was due to a 4 bp deletion in one of the original PCR priming sites. (escholarship.org)
  • Allele frequency는 gene frequency 라고도 불리며, 모집단 내에서 특정한 Locus에 Allele의 상대적인 빈도수라고 한다. (incodom.kr)
  • The Y-haplotype effect might result from differences in the penetrance of alleles at the sex-determining locus (such that sex reversal and ensuing X-Y recombination are more frequent in Y B populations), and/or fixation of an inversion on Y A (as supported by the empirical observation that Y A haplotypes might not recombine in XY A females). (datadryad.org)
  • The number of alleles per locus ranged from 2 to 12. (usgs.gov)
  • These findings show that both allelic heterogeneity and different combinations of alleles at a locus can be important for the manifestations of disease traits, that the combination of rare variant coding alleles with common variant non-coding alleles can be important for trait manifestation or for the penetrance of disease, and that gene dosage and expression perturbations can result in developmental birth defects. (cdc.gov)
  • If the manipulated allele (now heterozygous) did not present a heterozygous phenotype, the allele was suspected to be null. (wikipedia.org)
  • and a null allele (allele generated by a loss of function mutation outputting the complete loss of the WT phenotype)? (stackexchange.com)
  • Most pathology related to AT-D is linked to the Z allele and, in clinical practice, 96% of patients have a ZZ phenotype 3 - 6 . (ersjournals.com)
  • A novel nonsense variant in RHAG underlies a Nordic Rh null phenotype. (lu.se)
  • BACKGROUND AND OBJECTIVES: The extremely rare Rh null phenotype is characterized by the absence of all Rh antigens on erythrocytes. (lu.se)
  • null phenotype is characterized by the absence of all Rh antigens on erythrocytes. (lu.se)
  • The compound inheritance gene dosage model shows that haploinsufficiency does not cause the phenotype whereas a homozygous null allele is lethal. (cdc.gov)
  • 90 different alleles have been identified and described by protease inhibitor (PI*) phenotype. (msdmanuals.com)
  • For example, mice homozygous for a null allele for insulin die 48 to 72 hours after birth. (wikipedia.org)
  • Mice homozygous for a null allele die before gastrulation. (jax.org)
  • An additive allelic model of apolipoprotein(a) isoform size, refined by null allele genotype and quantitative polymerase chain reaction values, showed a sigmoid relationship with lipoprotein(a) levels, with baseline levels for longer isoform alleles and progressively higher levels of lipoprotein(a) for shorter isoform alleles. (ox.ac.uk)
  • Defines Allele Pair for Genotype object. (jax.org)
  • Differentiated vs. undifferentiated chromosomes were called via a threshold of Y-like alleles across Chr01 (outside Dmrt ), in individuals with a Dmrt- Y genotype. (datadryad.org)
  • The null genotype of GSTM1 increased the risk of cataract (OR=1.51, 95%CI: 1.01-2.26, p=0.045). (molvis.org)
  • A mutant allele that produces no RNA transcript is called an RNA null (shown by Northern blotting or by DNA sequencing of a deletion allele), and one that produces no protein is called a protein null (shown by Western blotting). (wikipedia.org)
  • Although mutant and null oligodendrocytes were generated in equal numbers, the proportion expressing the mutant allele subsequently declined, but whereas those expressing the rumpshaker allele formed a reduced but stable population, the number of jimpy cells fell progressively. (rupress.org)
  • A total of 27 loci were tested in red pines and null alleles were found at 3 of those loci. (wikipedia.org)
  • No null alleles were detected at the X-linked loci, but 13 of the 20 autosomal loci contained null alleles. (wikipedia.org)
  • Multiple different experiments have used genetic manipulation to induce null allele mutants in mice populations in order to observe the consequences of different allele combinations at specific loci. (wikipedia.org)
  • No loci were found to be linked, although 2 loci revealed significant departures from Hardy-Weinberg equilibrium or evidence of null alleles. (usgs.gov)
  • dicoccon PI94668 and PI349045 were identified as containing null alleles at Glu-A1 and Glu-B1 loci in previous investigation. (ias.ac.in)
  • A null allele is a nonfunctional allele (a variant of a gene) caused by a genetic mutation. (wikipedia.org)
  • A genetic null allele may be both a protein null and an RNA null, but may also express normal levels of a gene product that is nonfunctional due to mutation. (wikipedia.org)
  • Molecular basis of an apolipoprotein[a] null allele: a splice site mutation is associated with deletion of a single exon. (wakehealth.edu)
  • Exclusion was declared only when the obligatory paternal allele in the progeny tree was not present in the alleged parent tree for at least four independent markers to avoid false exclusions due to mutation or null alleles. (springer.com)
  • Cre deletes the promoter-driven selection cassette and floxed exon of the tm1a allele to generate a lacZ - tagged allele (tm1b) or deletes the floxed exon of the tm1c allele to generate a frameshift mutation (tm1d). (mousephenotype.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)
  • Null alleles are difficult to identify because a heterozygous individual for one null allele and one active allele is phenotypically indistinguishable from a homozygous individual with both active alleles. (wikipedia.org)
  • These potential null alleles were then confirmed when they failed to produce a heterozygous electrophoretic pattern. (wikipedia.org)
  • In compound heterozygotes expressing rumpshaker and jimpy alleles, oligodendrocytes expressing the former predominated and were more abundant than when the rumpshaker and null alleles were in competition. (rupress.org)
  • The homozygotes and heterozygotes for the wild type allele named positive genotypes. (molvis.org)
  • Null alleles or genes have been studied in different organisms from the red pines of Minnesota to Drosophila melanogaster and mice. (wikipedia.org)
  • By observing the consequences of different inactive allele combinations, the researchers were able to deduce the roles of insulin-like growth factors in the development of mice. (wikipedia.org)
  • Previously we reported that increased lateral deviation while ambulating and slips while traversing a narrow beam of ataxic Kcnc3 -null mice were corrected by restoration of Kv3.3 channels specifically to Purkinje cells, whereas Kcnc3 -mutant mice additionally lacking one Kcnc1 allele were partially rescued. (jneurosci.org)
  • Here, we report mice lacking all Kcnc1 and Kcnc3 alleles exhibit no such rescue. (jneurosci.org)
  • As Kcnc1 , but not Kcnc3 , alleles are lost, mutant mice exhibit increasing gait ataxia accompanied by spike broadening and deceleration in DCN neurons, suggesting the facet of coordination rescued by Purkinje-cell-restricted Kv3.3 restoration in mice lacking just Kcnc3 is hypermetria, while gait ataxia emerges when additionally Kcnc1 alleles are lost. (jneurosci.org)
  • To define which electrophysiological changes could most plausibly account for the ataxia, we examined intrinsic spiking of DCN neurons in mice lacking Kcnc3 as well as Kcnc1 alleles. (jneurosci.org)
  • We used compound heterozygote mice to study the long-term fate of oligodendrocytes expressing either the jimpy or rumpshaker allele against a background of cells expressing a Plp -null allele. (rupress.org)
  • in 1980 to determine existence and frequency of null alleles. (wikipedia.org)
  • Minor Allele Frequency(MAF)는 주어진 집단(실험)에서 두 번째로 흔한 대립 유전자가 발생하는 빈도를 의미한다. (incodom.kr)
  • The current study specifically attempts to determine estimates of the prevalence and number of subjects carrying the most common defective alleles, PI*S and PI*Z, in each of the individual European countries. (ersjournals.com)
  • Prevalence of null alleles and predominance of C-->T transition in their genesis. (lu.se)
  • Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. (cdc.gov)
  • Inheritance of some variant alleles causes a change in conformation of the alpha-1 antitrypsin molecule, leading to polymerization and retention within hepatocytes. (msdmanuals.com)
  • Divergence from the reference sequences (from genetic mutations) results in poor annealing of the primers so that the marker cannot be used, representative of a null allele. (wikipedia.org)
  • Both experiments used the process of mutageneis, whereby the genetic content of the organism is changed, to produce individuals with different combinations of null mutations. (wikipedia.org)
  • So 'null' is molecular concept, 'recessive' is an abstract genetic concept. (stackexchange.com)
  • The GSTM1-0 ( GSTM1 null) and GSTT1-0 ( GSTT1 null) alleles represent deletions of GSTM1 and GSTT1 genes, respectively. (molvis.org)
  • The current study focuses on developing estimates of the numbers of individuals carrying the two most common deficiency alleles, PI*S and PI*Z, for α 1 -antitrypsin deficiency (AT-D) in Europe. (ersjournals.com)
  • The remaining 4% mostly belongs to SZ, MZ and, in a smaller amount, to other rare deficiency or null phenotypes. (ersjournals.com)
  • The present study utilises available data from epidemiological studies performed by others to determine the frequencies of deficiency allele combinations for PI*S and PI*Z, in the healthy control cohorts of individual case studies from European countries. (ersjournals.com)
  • We have also examined how null allele genotyping complements apolipoprotein(a) isoform typing to refine the relationship between LPA isoform size and circulating lipoprotein(a) levels. (ox.ac.uk)
  • The knockout models are designed to be null alleles. (taconic.com)
  • The IMPC consortium uses different targeting strategies that have different and complementary properties to produce knockout alleles. (mousephenotype.org)
  • The 'knockout-first' allele design is a flexible strategy that can be used to produce reporter knockouts, conditional knockouts, and null alleles following exposure to site-specific recombinases Cre and Flp . (mousephenotype.org)
  • Flp converts the 'knockout-first' allele to a conditional allele (tm1c), restoring gene activity. (mousephenotype.org)
  • Null alleles can have lethal effects depending on the importance of the mutated gene. (wikipedia.org)
  • In most cases this design will result in complete null alleles that delete the entire protein coding sequence of the target gene. (mousephenotype.org)
  • 3 Expanded alleles are thought to result in low or absent frataxin levels while point mutations cause single amino acid changes in the C terminal region of the frataxin protein, possibly resulting in a loss of function. (bmj.com)
  • This null allele was PCR amplified by redesign of one of the original primers and multiple individuals homozygous for null as well as for nonnull alleles were sequenced using the new primer. (escholarship.org)
  • Arrows indicate primers used for allele validation. (elifesciences.org)
  • Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • The HLA-DR3 phenotypes seem to predispose to the formation of aCL antibodies and antinuclear antibodies (ANAs), but this has not been confirmed in patients, and particular HLA alleles associated with recurrent miscarriage have not been reported. (medscape.com)
  • No association was found between GSTM1 null and bladder cancer. (cdc.gov)
  • This non systematic review summarizes current data available on the role of environment gene interaction in form of GSTM1 null polymorphism and oral carcinogenesis. (bvsalud.org)
  • Relevant data was selected in order to summarize the studies conducted on GSTM1 null polymorphism and oral cancer. (bvsalud.org)
  • Relationship between GSTM1 null polymorphism in oral cancer needs to be established to confirm the role of environment gene interaction in oral carcinogenesis. (bvsalud.org)
  • The rga and gai null alleles interact synergistically to rescue vegetative growth and floral initiation in ga1-3, indicating that RGA and GAI are major repressors for these processes. (nih.gov)
  • The concept of a 'null' allele however came later, and explicitly describes how an allele works - by destroying gene activity. (stackexchange.com)
  • The current study estimates the total number of ZZ, SZ and MZ individuals in each European country, and goes beyond earlier publications by others 7 - 10 , in which only the allele frequencies for PI*M, PI*S and PI*Z were reported for individual cohorts in individual cities or geographical regions. (ersjournals.com)
  • MATERIALS AND METHODS: Four unrelated Rh null individuals were investigated. (lu.se)
  • null individuals were investigated. (lu.se)
  • Individuals carrying NAT1*10, a low activity allele, showed a higher risk of bladder cancer (OR=2.3, 95% CI 0.8-7.0). (cdc.gov)
  • The R71H-G230A-R293Q ( HAQ ) of TMEM173 is the second most common human TMEM173 allele. (aai.org)
  • A common LPA null allele associates with lower lipoprotein(a) levels and coronary artery disease risk. (ox.ac.uk)
  • By investigating 92 common-frog populations from a wide range of elevations throughout Switzerland, we show that sex-chromosome differentiation strongly correlates with alleles at the candidate sex-determining gene Dmrt1 . (datadryad.org)
  • 그래서 Non Functional Allele이라고도 한다. (incodom.kr)
  • The mutant alleles may include additional functional features, such as a lacZ reporter cassette or conditional potential. (mousephenotype.org)
  • is "wild type" because it is the allele occurring most frequently. (stackexchange.com)
  • Results suggest that the original null allele (as well as the nonnull class) has diversified considerably since its origin and has not recombined frequently with the nonnull class of alleles. (escholarship.org)
  • A null allele however results in zero activity of the gene. (stackexchange.com)
  • APPROACH AND RESULTS: The LPA null allele (rs41272114) was genotyped in the PROCARDIS (Precocious Coronary Artery Disease) case-control cohort (4073 CAD cases and 4225 controls). (ox.ac.uk)
  • CONCLUSIONS: The LPA null allele (rs41272114) is associated with decreased circulating lipoprotein(a) levels and decreased CAD risk. (ox.ac.uk)
  • Col4a4 has not been targeted in the mouse, and this strain, named Aoba, represents the first functionally null allele in this species. (nih.gov)
  • Furthermore, the reamplifications revealed five distinct size classes of alleles that had been masquerading as the original null. (escholarship.org)
  • 2 Point mutations, predicted to be null alleles, are thought to be rare. (bmj.com)
  • Alleles that produced an enzyme lacking catalytic activity were denoted as null alleles. (wikipedia.org)
  • Basically, a recessive allele leads to formation of a product that has a low activity or no activity, which is complemented in the presence of the dominant allele (there can be effects related to dosage, in some cases). (stackexchange.com)
  • CONCLUSION: A novel Nordic Rh null allele was identified. (lu.se)
  • Rh null cells have altered expression of glycophorin B and LW glycoprotein. (lu.se)
  • In addition, it was shown that s+ Rh null red blood cells are not only U- but also have qualitative changes in their s antigen expression. (lu.se)
  • null red blood cells are not only U- but also have qualitative changes in their s antigen expression. (lu.se)
  • Null alleles can also have beneficial effects, such as the elevated harvest index of semi-dwarf rice of the green revolution caused by null alleles in GA20ox-2. (wikipedia.org)
  • Each pair specifies two alleles, both of which must be associated with the same marker. (jax.org)
  • We subsequently generated an HAQ knock-in mouse expressing a mouse equivalent of the HAQ allele (mHAQ). (aai.org)
  • DNA analysis of the FRATAXIN gene in the patient showed that the GAA expansion was present in one allele but not the other, while her mother was negative for the GAA expansion in both alleles. (bmj.com)
  • DNA analysis is also commonly used to establish the diagnosis based on presence of 2 mutant alleles, especially in diagnostic panels. (medscape.com)