PhenotypeAllelesMutationsMutationIncompleteExpressivityHeterozygousPrevalenceClinicalC282YPhenotypesDeletionVariantsGenesAlleleAnimal'sGeneRecessiveSeverityDominantBreedsDogsInheritanceIndividualsTraitLethalDevelopmentalMalesRelativesFemalesPatientsPopulationRiskCasesAnimalsExpressionEffectShowAnalysis
Phenotype11
- Results We identified a homozygous 2 bp deletion in MMP21, encoding matrix metalloproteinase-21, as the sole coding mutation that segregated with the phenotype. (bmj.com)
- METHODS: A genotype-phenotype overview of the patients and relatives was created. (edu.au)
- Combined with the reduced penetrance and variable phenotype, we conclude that KCNH2:p. (edu.au)
- Referenced article focusing on the relationship between phenotype and genotype. (cancerindex.org)
- Abstract Field‐based, rapid, and nondestructive techniques for assessing plant productivity are needed to accelerate the discovery of genotype‐to‐phenotype relationships in next‐generation biomass grass crops. (osti.gov)
- Nonetheless, there remain significant challenges to uncovering the pathogenic mechanisms as well as the genotype-phenotype relationships of congenital contracture disorders for the following reasons. (biomedcentral.com)
- Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome. (cdc.gov)
- For example, bone morphogenetic protein receptor type 2 ( BMPR2 ) mutations are observed in 60-80% of familial (FPAH) cases, but data from population registries indicate that penetrance of the disease phenotype ranges from 14 to 42% [ 6 ]. (biomedcentral.com)
- Penetrance refers to frequency of expression of a genotype regardless of severity of the phenotype. (tripod.com)
- Major breakthroughs in medical genomics have been enabled by the implementation of clinical exome sequencing (ES) for molecular diagnosis, by genomics approaches for understanding the genetic basis of complex traits and diseases, and by progress in understanding genotype–phenotype relationships. (cdc.gov)
- The compound inheritance gene dosage model shows that haploinsufficiency does not cause the phenotype whereas a homozygous null allele is lethal. (cdc.gov)
Alleles6
- These susceptibility alleles can be part of polygenic/complexly inherited traits, or the cause of incomplete penetrance of (assumed) simple Mendelian traits. (vin.com)
- C57BL/6J-derived alleles at Agln2 confer decreased aganglionosis severity and penetrance with an additive mode of inheritance. (jax.org)
- The use of a polygenic model to assess the additive effect of low penetrance risk alleles identified combinations of risk genotypes that could be useful in predicting a predisposition to lung cancer. (scielo.br)
- For the nonsynonymous SNPs other than the ADAMTS10 variant, control dogs were identified that were homozygous for the alternative alleles, ruling out those variants as causative. (arvojournals.org)
- Specific mutations can be introduced to mimic the disease-causing genotype, but also overexpression, knockdown or loss-of-function alleles can be created to study the function of disease-related proteins. (protect-move.de)
- 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)
Mutations6
- Mutations in bone morphogenetic protein receptor type 2 ( BMPR2 ) cause familial pulmonary arterial hypertension (FPAH), but the penetrance is reduced and females are significantly overrepresented. (ersjournals.com)
- However, it is unclear why BMPR2 mutations have reduced penetrance, and why, after puberty, females with mutations are about 2.5-fold more likely to develop FPAH than males 1 . (ersjournals.com)
- Direct gene tests are specific for mutations and are a direct measurement of the genotype. (vin.com)
- A frequently reported mutation in TACR3 for idiopathic hypogonatrophic hypogonadism (p.W275X) is associated with 1.25-year-later menarche ( P =2.8 × 10 −11 ), illustrating the utility of population studies to estimate the penetrance of reportedly pathogenic mutations. (nature.com)
- In addition to limb contractures, patients with ECEL1 mutations have ptosis and strabismus with variable expressivity and penetrance. (biomedcentral.com)
- Homozygous and compound heterozygous RYR1 mutations. (cdc.gov)
Mutation11
- Genotypes for CYP1B1 Asn453Ser ( N453S ) were determined for 140 BMPR2 mutation carriers (86 females and 54 males). (ersjournals.com)
- Recently, our studies of BMPR2 mutation carriers implicated altered oestrogen metabolism as a key factor in the penetrance of FPAH in females. (ersjournals.com)
- To test this, we studied the relationship between the CYP1B1 Asn453Ser ( N453S ) genetic polymorphism and FPAH penetrance in BMPR2 mutation carriers 19 . (ersjournals.com)
- In support of this finding, a homozygous missense mutation in MMP21 was identified previously in mice with N-Ethyl-N-Nitrosourea (ENU)-induced heterotaxy. (bmj.com)
- Furthermore, all confirmed BSD carriers were heterozygous, while all affected calves were homozygous for the glutamine allele consistent with recessive transmission of the underlying mutation and complete penetrance in the homozygous state. (au.dk)
- Olynyk et al studied 3011 unrelated individuals in Australia and showed that 16 were homozygous for the C282Y mutation. (medscape.com)
- In a meta-analysis of data from 7 studies, clinical manifestations were present in 50% of males and 44% of female patients who were homozygous for the HFE mutation. (medscape.com)
- Exome sequencing of 2 sisters with ALS from Morocco was followed by genotyping the identified causative null mutation in 379 unrelated patients with ALS and 1,000 controls. (mssm.edu)
- Results: We identified 5 unrelated patients with ALS homozygous for the null 691-692insAG mutation in the optineurin gene (OPTN), accounting for 5.8% of ALS of Moroccan origin and 0.3% of Ashkenazi. (mssm.edu)
- This mutation causes autosomal recessive ALS and significantly increases the risk to develop the disease in heterozygous carriers, suggesting both a recessive mode of inheritance and a dominant with incomplete penetrance. (mssm.edu)
- However, by causing symptoms and complications of sickle cell disease, the mutation also has harmful effects usually when present in the homozygous state. (msdmanuals.com)
Incomplete5
- The Pd gene (dominant with incomplete penetrance) causes the benign, pre-axial form of polydactyly where one or more extra toes occur near the dew claw. (wikipedia.org)
- RESULTS: Incomplete penetrance of LQTS2 in KCNH2:p. (edu.au)
- Follow-up of the three families confirmed that one child was diagnosed with PKU and two children with GJB2 variants were scheduled to undergo hearing loss testing every six months after genetic counceling due to the nature of incomplete penetrance of hearing loss. (researchsquare.com)
- Further functional analysis in relevant tissues from cases and controls will help to clarify the precise role of this deletion in normal and abnormal eyelash development and investigate the hypothesis of incomplete penetrance. (uu.nl)
- SERPING1 variants usually behave in an autosomal-dominant character with an incomplete penetrance and a low prevalence. (openscience.si)
Expressivity2
- Define penetrance and expressivity. (essaytyping.com)
- Expressivity and penetrance are very different concepts. (tripod.com)
Heterozygous5
- Cats homozygous and heterozygous for this gene display shortened and kinked tails. (wikipedia.org)
- Cats with the heterozygous genotype (Mm) show severely shortened tail length, ranging from taillessness to a partial, stumpy tail. (wikipedia.org)
- HEK293a cells expressing (i) wild-type (WT) KCNH2, (ii) KCNH2-p.S906L alone (homozygous, Hm) or (iii) KCNH2-p.S906L in combination with WT (1:1) (heterozygous, Hz) were used for manual patching. (edu.au)
- This category includes some homozygous (n = 10) or compound heterozygous variants (n = 11). (openscience.si)
- With respect to reduced penetrance, several findings in homozygous as well as heterozygous PINK1 mutant carriers suggest the existence of this phenomenon in the context of genetic PD. (protect-move.de)
Prevalence1
- New findings on prevalence and penetrance of malignant hyperthermia]. (cdc.gov)
Clinical6
- Nine thousand three hundred and ninety-six subjects (3367 men, aged 25-40 years, and 6029 women, aged 35-50 years), attending three Health Appraisal Centres, were genotyped and assessed with respect to clinical and biochemical signs of haemochromatosis. (nih.gov)
- This is an example of a genetic test with low penetrance , indicating that the homozygous state is poorly predictive of clinical disease. (vin.com)
- In these breeds, breeding dogs should not be selected against or have their mating choices altered due to carrier or homozygous "at risk" status of DM unless there is knowledge of close (first or second degree) relatives diagnosed with clinical degenerative myelopathy. (vin.com)
- ABSTRACT Familial Mediterranean fever is quite prevalent among Arabs.We reviewed the files of 56 patients diagnosed with familial Mediterranean fever and followed up at King Hussein Medical Centre in Jordan over 4 years for their clinical profile, course, genotype, treatment and complications.There were 30 males and 26 females with a mean age at onset of 5.2 years. (who.int)
- The The gene responsible for FMF is desigi clinical profile, course, genotype, treatment nated MEFV and was recently cloned [ 8 ]. (who.int)
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes. (cdc.gov)
C282Y3
- However, the penetrance of C282Y homozygosity is poorly documented and the strategy for population screening remains debated. (nih.gov)
- Fifty-four subjects (10 men and 44 women) were homozygous for C282Y. (nih.gov)
- Genotypes were stratified according to deleterious effect of C282Y variant. (scielo.br)
Phenotypes3
- View phenotypes and curated references for all genotypes (concatenated display). (jax.org)
- This spectrum of phenotypes is paralleled by ATP levels, suggesting the presence of genetic modifiers that result in reduced penetrance of the phenotypes in Pink1-deficient flies. (protect-move.de)
- This article is a brief introduction to the study of CMT and correlates the most common different genotypes and phenotypes. (medscape.com)
Deletion3
- Because these polymorphisms may be very common (the homozygous deletion in the glutathione-S-transferase mu gene occurs in approximately 50% of whites), their population-attributable risks may be large even if the relative risks are modest. (health.am)
- This deletion was associated with distichiasis, as 18 of the 19 cases were homozygous (p = 4.8 × 10− 13). (uu.nl)
- Genotyping the deletion in 955 horses from 54 different breeds identified the deletion in only 11 non-Friesians, all of which were carriers, suggesting that this could be causal for this Friesian disorder. (uu.nl)
Variants1
- Here we report a dual strategy for assessing genetic variation overlooked by those prior efforts: low-frequency protein-coding variants genotyped by large-scale exome-focussed arrays and high-density X-chromosome single-nucleotide polymorphism (SNP) genotyping and imputation. (nature.com)
Genes3
- This may not directly relate to the genotype, or the genes regulating the defect that you are trying to manage. (vin.com)
- All of the genotypes analyzed were in Hardy-Weinberg equilibrium, but different degrees of linkage were observed for polymorphisms in the CYP1A1 and EPHX1 genes. (scielo.br)
- Dogs of various breeds, affected or unaffected with primary glaucoma, were genotyped for the Gly661Arg variant of ADAMTS10 , as well as 7 other nonsynonymous single nucleotide polymorphisms (SNPs) in other genes in the beagle POAG locus that segregate with disease. (arvojournals.org)
Allele2
- To explore this observation further, we genotyped more than 3,100 animals of various cattle breeds and found that the glutamine allele exclusively occurred in breeds upgraded with ABS. (au.dk)
- 1 Genotyping the eight nonsynonymous SNPs in 48 control beagles showed that the Gly661Arg variant of ADAMTS10 had the lowest minor allele frequency (MAF). (arvojournals.org)
Animal's1
- This makes up the animal's genotype. (poodleclubofamerica.org)
Gene6
- Cats homozygous for the gene tend to have shorter, more kinked tails. (wikipedia.org)
- M Manx tailless gene (dominant with high penetrance). (wikipedia.org)
- An autosomal recessive susceptibility gene has been identified that is homozygous (two abnormal copies) in all DM affected dogs. (vin.com)
- However, a large proportion of individuals in these breeds are homozygous for this gene and do not become affected. (vin.com)
- Testing Boxers for the DM susceptibility gene shows 39% testing carrier, and 43% testing homozygous "at risk" for the susceptibility gene. (vin.com)
- In single gene disorders (as opposed to multifactorial-complex disorders), the mutation's population frequency is low, its penetrance is high, and the contribution of environment is lower with notable exceptions of PKU and few others. (dorak.info)
Recessive1
- At this time, as with most recessive disorders, there is no way to identify carriers (animals with the genotype Pp) until affected offspring are born. (poodleclubofamerica.org)
Severity2
- F2 animals homozygous for Sox10 Dom were scored for aganglionosis severity and penetrance as well as total affected gut length. (jax.org)
- Peak linkage to aganglionosis severity (LOD=7) and penetrance (LOD=8.6) occurs at 21 cM near D5Ncnp1. (jax.org)
Dominant1
- A homozygous dominant would have passedthe trait to all the children. (essaytyping.com)
Breeds1
- The purpose of this study was to test the hypothesis that the Gly661Arg variant of ADAMTS10 causes glaucoma by genotyping dogs of various breeds affected and unaffected by primary glaucoma. (arvojournals.org)
Dogs3
- This test is useful in ruling out a diagnosis of DM in homozygous normal and carrier dogs. (vin.com)
- Some breeders feel that any carrier or "at risk" dogs should only be bred to homozygous normal testing dogs. (vin.com)
- Dogs with the genotype PP have normal sight and those with pp are affected. (poodleclubofamerica.org)
Inheritance1
- This command loads a Linkage-format pedigree file with genotypes and checks for formatting and non-Mendelian inheritance errors. (animalgenome.org)
Individuals1
- Low penetrance genotypes will only be expressed in a small frequency of individuals bearing them (as in acute intermittent porphyria). (tripod.com)
Trait2
- Penetrance is the probability of a trait or genebeing expressed. (essaytyping.com)
- In the following pedigree, assume that the father of the proband is homozygous for a rare trait. (essaytyping.com)
Lethal2
- some are even lethal in their homozygous form. (wikipedia.org)
- The homozygous form (MkMk) may be lethal as litter sizes are smaller than average. (wikipedia.org)
Developmental1
- These homozygous patients present during early childhood with developmental delay, nystagmus, photosensitivity, and skeletal hand deformities. (medscape.com)
Males2
- [ 7 ] This high frequency rate was supported by Bulaj et al who published reports indicating that 52% of males older than 52 years and 16% of females older than 50 years with the homozygous genotype had at least one "disease-related condition. (medscape.com)
- All males must be homozygous for X markers. (animalgenome.org)
Relatives1
Females1
- Among females, there was four-fold higher penetrance among subjects homozygous for the wild-type genotype (N/N) than those with N/S or S/S genotypes (p = 0.005). (ersjournals.com)
Patients3
- Genotyping was performed in 239 ccRCC patients and 350 matched controls, while plasma levels of 8-hydroxy-2'-deoxyguanosine (8-OHdG), a biomarker of oxidative DNA damage, were determined by ELISA. (cancerindex.org)
- Nous avons exa- miné les dossiers de 56 patients ayant eu un diagnostic de fièvre méditerranéenne familiale et suivis au Centre médical Roi Hussein en Jordanie sur une période de 4 ans afin d'étudier leur profil clinique, l'évolution de la maladie, le génotype, le traitement et les complications. (who.int)
- En ce qui concerne le traitement, 97% des patients répondaient bien à la colchicine et une amyloïdose n'a été documentée chez aucun des patients après un suivi de 5 ans. (who.int)
Population1
- A significant correlation was observed between PAI and biomass production across the population at maturity ( r 2 = .60), as well as for select diverse genotypes sampled repeatedly over the growing season ( r 2 = .79). (osti.gov)
Risk1
- As a result, combined effect of all three variant genotypes exhibited almost 3-fold risk of RCC development. (cancerindex.org)
Cases1
- Results: A genome wide association study (GWAS) was performed using the Axiom 670 k Equine Genotyping array (MNEc670k) utilizing 14 cases and 38 controls phenotyped for distichiasis. (uu.nl)
Animals1
- A total of 1068 F2 animals homozygous for Sox10 Dom were analyzed for gut length. (jax.org)
Expression1
- Genotypes must be interpreted with biological investigation fitting with C1-INH expression and typing. (openscience.si)
Show1
- Cats with the homozygous genotype (MM) die before birth, and stillborn kittens show gross abnormalities of the central nervous system. (wikipedia.org)
Analysis1
- At this point you are ready to run any of the qualitative and quantitative analysis commands ('estimate', 'exclude', 'infomap' and 'haseman elston', 'nonparametric', 'ml variance', and 'penetrance' respectively). (animalgenome.org)