• The cluster miR-99a/let-7c/miR-125b-2 is in a 21p11.1 region of HD (homozygous deletions). (wikipedia.org)
  • Cytogenetic, fluorescence in situ hybridization (FISH), and loss-of-heterozygosity (LOH) studies have revealed that MRTs frequently contain deletions at chromosome locus 22q11.1. (medscape.com)
  • The presence or absence of the amplified DNA fragments indicate homozygous insertions or deletions in the kidney tumor DNA compared to the age-matched normal kidney tissue DNA. (diethylstilbestrol.co.uk)
  • The objective was to determine, whether the selection pressure generated by the methods based on in vitro cultures, may cause a loss of genotypes with desirable Glu-1 alleles. (ejbiotechnology.info)
  • If the two alleles are the same, the individual is homozygous for that allele. (genome.gov)
  • Lethality of the new alleles as homozygous zygotic mutants is not completely penetrant, and they have an extended phenocritical period. (peerj.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)
  • By comparative multiplex PCR analysis, we detected a homozygous deletion of one marker in the 7q31.1-31.2 region in one tumor, RC21. (elsevierpure.com)
  • In this study, 8 of 42 patients with esophageal cancer had microsatellite instability (MSI), and 29 cases demonstrated allelic loss (loss of heterozygosity or homozygous deletion) at the FHIT/FRA3B locus. (elsevierpure.com)
  • In addition, FUBP1 homozygous deletion was detected in one case suggesting a putative tumor suppressor role of FUBP1 in AOD.Our study showed that the genomic and pathological analyses of AOD are synergistic in detecting relevant clinical and biological subgroups of AOD. (altrabio.com)
  • The results show the ability of RAPD-PCR to detect and isolate, in a single step, DNA sequences representing genetic alterations in stilbene estrogen-induced cancer cells, including losses of heterozygosity, and homozygous deletion and insertion mutations. (diethylstilbestrol.co.uk)
  • The SOR region … A homozygous deletion at SOR was detected in 5 of 37 useful cases of DPC (13.5%) and in 2 TSU-68 of 6 PanINs. (scienceexhibitions.org)
  • Most animals with loss-of-function let-7 mutation burst through their vulvas and die, and therefore the mutant is lethal (let). (wikipedia.org)
  • A number sign (#) is used with this entry because of evidence that histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures, and/or deafness (histiocytosis-lymphadenopathy plus syndrome) is caused by homozygous or compound heterozygous mutation in the SLC29A3 gene (612373) on chromosome 10q22. (findzebra.com)
  • Mutation involves any change in the hereditary material: from a point mutation to a chromosomal loss. (tripod.com)
  • 2014) observed that the presence of one copy of the c.118G>A mutation and another copy of the c.52A>T mutation (compound heterozygosity) generates a similar risk of MD as the c.118G>A variant in homozygosity. (kokogenetics.com)
  • the invention also provides non-human animals and cells comprising a transgene encoding an APP comprising the Swedish mutation and further comprising functionally disrupted endogenous APP gene loci, transgenes and targeting constructs used to produce such transgenic cells and animals, transgenes encoding human Swedish mutation APP polypeptide sequences, and methods for using the transgenic animals in pharmaceutical screening and as commercial research animals for modeling neurodegenerative diseases (e.g. (justia.com)
  • In the first family, we identified a pathogenic PMS2 mutation for which the affected patient was homozygous. (bmj.com)
  • One mutation carrier developed progressive dementia at age 51 and died at age 61 following a disease characterized by memory loss, rigidity, and generalized tonic-clonic seizures. (alzforum.org)
  • The BLM mutations can be found in compound heterozygous forms, homozygous forms, or as single gene mutation forms. (medscape.com)
  • One hundred and six genomic loci for this highly heritable trait have been mapped by genome-wide association studies (GWAS), implicating many previously unsuspected mechanisms 1 . (nature.com)
  • Considering this genetic defect and the frequent genomic alterations of the NBPF1 locus in several cancer types, we hypothesized that NBPF1 is a tumor suppressor. (biomedcentral.com)
  • Click "Gene Ontology Details" to view all GO information and evidence for this locus as well as biological processes it shares with other genes. (yeastgenome.org)
  • Positional cloning efforts revealed that this locus contains the SWI/SNF related, matrix-associated, actin-dependent regulator of chromatin, subfamily B, member 1 ( SMARCB1 ) gene, also known as human sucrose non-fermenting gene number 5 ( hSNF5 ), integrase interactor 1 ( INI1 ) , or 47-Kd Brg1/Bam -associated factor ( BAF47 ). (medscape.com)
  • This observation led us to investigate the effect of an allelic loss of the FHIT gene on esophageal cancer when coupled with a deficient mismatch repair system. (elsevierpure.com)
  • Recurring copy neutral losses of heterozygosity (CNLOH) inducing the modulation of gene expression have also been discovered. (altrabio.com)
  • The cloning and sequencing of RAPD amplified loci revealed that one mutated locus had significant sequence similarity with the hamster Cyp1A1 gene . (diethylstilbestrol.co.uk)
  • Our findings highlight genetic contributions to fitness, and the importance of effective population size and gene flow to counteract loss of genetic variation in a wild, free-ranging social carnivore. (biorxiv.org)
  • The AT locus was mapped to the chromosomal region 11q22-23 using genetic linkage analysis in the late 1980s and the causative gene was identified by positional cloning several years later. (bmj.com)
  • Loss of heterozygosity at 11q22-23 (the location of the ATM gene) is a common event in lymphoid malignancy. (bmj.com)
  • Patients who are homozygous or compound heterozygous for mutations in the lysosomal acid lipase gene (LIPA), and have some residual enzymatic activity, have cholesteryl ester storage disease. (inra.fr)
  • Association Mapping (AM) is a promising choice for Quantitative Trait Locus (QTL) mapping, as it detects relationships between phenotypic variation and gene polymorphisms in existing germplasm without development of mapping populations. (biomedcentral.com)
  • Traditional linkage analysis, gene cloning and Genome Wide Association Studies (GWAS) have identified several loci and genes associated with monogenic PD. (acnr.co.uk)
  • This classification is imperfect as it contains both confirmed and unconfirmed loci (loci not replicated) and the causative gene remains unknown for many loci. (acnr.co.uk)
  • Cytogenetic and molecular analysis of DNA sequences with highly polymorphic microsatellite markers have implicated allele loss in several chromosomal regions including 3p, 6p, 6q, 8p, 9p, 9q, 11p and 14q in the pathogenesis of sporadic renal cell carcinomas (RCCs). (elsevierpure.com)
  • We found chromosome 7q allele loss in 59 of 92 cases (64%) involving one, two, or more microsatellite markers. (elsevierpure.com)
  • The most common allele loss included loci D7S522 (24%) and D7S649 (30%) at 7q31.1-31.2, a region that contains one of the common fragile sites, FRA7G. (elsevierpure.com)
  • Samples are in heterozygosity for the specific microsatellite and the peaks represent each allele amplification product. (scienceexhibitions.org)
  • An allele is a genetic variant at a specific point, locus , in our genetic code. (familytreedna.com)
  • Women and girls who are homozygous, compound heterozygous or hemizygous clearly have haemophilia, as they do not have a normal allele. (cdc.gov)
  • Studies have identified several molecular abnormalities with clinical or biological relevance to AOD (e.g. t(1;19)(q10;p10), IDH1, IDH2, CIC and FUBP1 mutations).To better characterize the clinical and biological behavior of this tumor type, the creation of a national multicentric network, named "Prise en charge des OLigodendrogliomes Anaplasiques (POLA)," has been supported by the Institut National du Cancer (InCA). (altrabio.com)
  • The presence of mutated loci in uninvolved (non-tumor) surrounding tissue adjacent to tumors from stilbene estrogen-treated hamsters suggests that these mutations occurred in the early stages of carcinogenesis. (diethylstilbestrol.co.uk)
  • Phenotypic analysis of these ' in locus ' mutations based on both expression of Kni protein and adult wing phenotypes, reveals novel unexpected features of L2-CRM function including evidence for a chromosome pairing-dependent process that promotes transcription. (elifesciences.org)
  • Heterozygous germline loss-of-function mutations of the genes encoding the crucial components of this MMR system ( MLH1 , MSH2 , MSH6 or PMS2 ) cause Lynch syndrome, a well characterised dominant cancer syndrome associated with hereditary non-polyposis colorectal cancer (HNPCC) and other malignancies (reviewed by Peltomaki 4 ). (bmj.com)
  • Loss of genetic diversity in isolated populations of an alpine endemic Pilosella alpicola subsp. (unifr.ch)
  • Our data indicate a significant loss of genetic diversity in the isolated Eastern and Southern Carpathian populations in following genetic parameters (averaged per region): percentage of polymorphic loci (38.9% found in the Eastern and Southern Carpathians versus 58.3% in the Western Carpathians), allelic richness (1.4 vs. 1.6), expected heterozygosity (0.134 vs. 0.235), mean number of distinguishable multilocus genotypes (4.3 vs. 10.6) and proportion of distinguishable multilocus genotypes (0.34 vs. 0.68). (unifr.ch)
  • The studies demonstrate that combining the genotype and copy number analyses gives greater insight into the underlying genetic alterations in cancer cells with identification of complex events including loss and reduplication of loci. (ox.ac.uk)
  • Genetic heterogeneity and locus heterogeneity are used interchangeably in practice but this requires attention. (tripod.com)
  • Here, we present a 'first' report of genetic linkage of microspherophakia (MSP) to LTBP2 locus in a large consanguineous Pakistani family with four affected individuals in three loops. (org.pk)
  • In addition, we identify common X-chromosome loci at IGSF1 (rs762080, P =9.4 × 10 −13 ) and FAAH2 (rs5914101, P =4.9 × 10 −10 ). (nature.com)
  • Its genome contains one genome copy from the S. uvarum parental genome and two heterozygous copies of the S. cerevisiae parental genome, with the exception of a monosomic S. cerevisiae chromosome III, where the sex-determining MAT locus is located. (frontiersin.org)
  • We first independently derived and validated a favourable-risk WCA group (WCA-FR) characterised by ≥ 2 features from chromosome 7 gain, 8 loss, and 11 loss. (bvsalud.org)
  • Results A 9q Region of Frequent Allelic Loss Characterizes Both DPCs and PanINs A panel of 40 TSU-68 paired normal-tumor DNA samples from DPCs and 6 PanINs were assayed for LOH using 9 polymorphic microsatellites mapped to chromosome 9q. (scienceexhibitions.org)
  • The SSD technique appeared to be the most advantageous in terms of Mendelian segregation, thus the occurrence of residual heterozygosity can be minimized by continuous selfing beyond the F 6 generation. (ejbiotechnology.info)
  • Residual heterozygosity in the initial inbreds can partly explain the observed responses as evidenced by 42 markers derived from both Methyl-Sensitive Amplification- and Amplified Fragment Length- Polymorphisms. (biomedcentral.com)
  • In zebrafish, a classical model species for pigmentation that undergoes metamorphosis, larvae and adults of homozygous mitfa mutants lack melanophores, show an excess of iridophores and exhibit reduced yellow pigmentation. (unige.ch)
  • Given the clinical overlap of CMMR-D syndrome with NF1, we suggest careful examination of the family history in patients with embryonic tumours and signs of NF1 as well as analysis of the tumours for loss of one of the mismatch repair genes and microsatellite instability. (bmj.com)
  • We therefore studied LOH for DNA sequences on 7q with 10 highly polymorphic markers in 92 matched normal/tumor samples representing sporadic RCCs including papillary, nonpapillary, and oncocytomas in order to determine whether allelic loss could be detected in a tumor type with no visible 7q rearrangements at the cytogenetic level. (elsevierpure.com)
  • Among these amplified DNA fragments, 44 loci exhibited either qualitative or quantitative differences between the tumor tissues and normal kidney tissues. (diethylstilbestrol.co.uk)
  • RAPD-PCR loci showing decreased and increased intensities in tumor tissue DNA relative to control DNA indicate that loci have undergone allelic losses and gains, respectively, in the stilbene estrogen-induced tumor cell genome . (diethylstilbestrol.co.uk)
  • Although the exact functional importance of mutated loci is unknown, this study indicates that these altered loci may participate during tumor progression in the kidney. (diethylstilbestrol.co.uk)
  • Decreased expression of NBPF1 in neuroblastoma cell lines with loss of 1p36 heterozygosity and the marked decrease of anchorage-independent clonal growth of DLD1 colorectal carcinoma cells with induced NBPF1 expression further suggest that NBPF1 functions as tumor suppressor. (biomedcentral.com)
  • Pancreatic tumor is the 5th leading reason behind cancer-related loss of life in men and women under western culture being in charge of 5% of most cancer-related fatalities.1 Having less reliable early diagnostic strategies and effective therapeutic regimens makes the mortality prices in TSU-68 individuals with pancreatic carcinoma virtually exactly like the incidence prices. (scienceexhibitions.org)
  • In at least one locus LOH was found in 67.5% of tumor TSU-68 samples (27/40) and in all PanIN samples (Determine 1 and Determine 2). (scienceexhibitions.org)
  • Application of biotechnological tools to accelerate the attainment of homozygous lines may influence the proportion of segregated genotypes. (ejbiotechnology.info)
  • Higher proportion of homozygous loci found in the Eastern and Southern Carpathian populations might indicate a higher rate of inbreeding due to non-random mating. (unifr.ch)
  • hearing loss was also found in about half of patients, and many had short stature. (findzebra.com)
  • In family 2, immunohistochemistry analysis showed isolated loss of PMS2 expression in all tumours in the affected patients, including rhabdomyosarcoma itself and the surrounding normal tissue. (bmj.com)
  • In a large study of Golden Retrievers, researchers found that for each 1% the COI rises, there is a corresponding one month loss of longevity. (dobermandiversityproject.org)
  • Additionally one of the proposed loci was later found to be previously reported (PARK4 and PARK1). (acnr.co.uk)
  • This result indicated that the disruption of the mismatch repair system of Msh2 does not mainly lead to allelic loss of the FHIT/FRA3B locus as well as MSI in esophageal cancer. (elsevierpure.com)
  • We concluded that MSI is significantly related to the allelic loss in the FHIT/FRA3B region, but Msh2 might be unrelated to the progression or oncogenic process in esophageal cancer. (elsevierpure.com)
  • BACKGROUND AND AIMS: Childhood/Adult-onset Lysosomal Acid Lipase Deficiency (LAL-D) is a recessive disorder due to loss of function variants of LAL, the enzyme which hydrolyses cholesteryl esters, derived from internalized apoB containing lipoproteins. (inra.fr)
  • We have previously reported a significant correlation between the progression of colorectal carcinoma and the loss of Fhit and Msh2 expression. (elsevierpure.com)
  • CNLOH in the CDKN2A locus was associated with protein silencing in 1/3 of the cases. (altrabio.com)
  • Protein levels of CDKN1A -encoded p21 CIP1/WAF1 were determined by western blotting and the importance of p53 was shown by immunofluorescence and by a loss-of-function approach. (biomedcentral.com)
  • Careful evaluation of the literature allows some causes to be assigned, but explanations are ambiguous or elusive for other species losses. (nationalacademies.org)
  • identified six AF susceptibility loci ( PRRX1 , CAV1 , C9orf3 , SYNPO2L , SYNE2 , and HCN4 ) in addition to three previously reported loci ( PITX2 , ZFHX3 , and KCNN3 ) by a genome-wide association study (GWAS) conducted in individuals of European ancestry. (nature.com)
  • GWAS and linkage analysis have identified 18 Parkinson's disease loci (PARK) numbered in a chronological order. (acnr.co.uk)
  • FHC described an autosomal recessive disease involving joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes (summary by Morgan et al. (findzebra.com)
  • Notably, some dogs homozygous for the c.118G>A variant have no clinical symptoms of MD, suggesting incomplete penetrance or the existence of other loci involved in the disease. (kokogenetics.com)
  • Lifespan and heterozygosity were higher in the effective population, although individuals who had their first litter at an older age also had higher inbreeding coefficients. (biorxiv.org)
  • Aneuploidy is an abnormality in the number of chromosomes in a cell due to loss or duplication. (genome.gov)
  • Segregation distortion in homozygous lines obtained via anther culture and maize doubled haploid methods in comparison to single seed descent in wheat (Triticum aestivum L. (ejbiotechnology.info)
  • Homozygous lines were derived from six winter wheat crosses by pollination with maize (DH-MP), anther culture (DH-AC) and single seed descent (SSD) technique. (ejbiotechnology.info)
  • the 16p11.2 locus showed extensive pleiotropy. (123dok.org)
  • To conclude we determined a book oncosuppressor area located in the 9q 31.1-3 locus that's misplaced in DPC in high frequency. (scienceexhibitions.org)
  • The population losses among honey bees are elucidated in a large body of literature on honey bee pests, parasites, and pathogens (Morse and Flottum, 1997), most notably on the parasitic mites Varroa destructor (varroa mite) and Acarapis woodi Rennie (tracheal mite), the pathogen Paenibacillus larvae (American foulbrood, [AFB]), and the invasive Africanized honey bee. (nationalacademies.org)