PART 16 - PTools.ir
... pulsatile manner and exhibits a diurnal rhythm; its highest levels occur at night. However, these TSH excursions are modest in comparison to those of other pituitary hormones, in part, because TSH has a relatively long plasma half-life (50 min). Consequently, single measurements of TSH are adequate ...
... pulsatile manner and exhibits a diurnal rhythm; its highest levels occur at night. However, these TSH excursions are modest in comparison to those of other pituitary hormones, in part, because TSH has a relatively long plasma half-life (50 min). Consequently, single measurements of TSH are adequate ...
The phenotypic consequences of MECP2 mutations extend beyond
... strikes females, Rett syndrome (RTT) has been an enigmatic disorder since it was first recognized. The identification of mutation in MECP2 as the cause of most cases of RTT affords us the opportunity to explore the mechanisms that underlie the disorder both clinically and molecularly. However, the g ...
... strikes females, Rett syndrome (RTT) has been an enigmatic disorder since it was first recognized. The identification of mutation in MECP2 as the cause of most cases of RTT affords us the opportunity to explore the mechanisms that underlie the disorder both clinically and molecularly. However, the g ...
Motoo Kimura and James Crow on the Infinitely Many Alleles Model
... imura and Crow’s 1964 article is justly regarded as one of the foundational articles of evolutionary molecular genetics. It is based on what they called the “infinite alleles” model (now called the “infinitely many alleles” model). This model was motivated by the recognition that a gene is a sequence ...
... imura and Crow’s 1964 article is justly regarded as one of the foundational articles of evolutionary molecular genetics. It is based on what they called the “infinite alleles” model (now called the “infinitely many alleles” model). This model was motivated by the recognition that a gene is a sequence ...
i A Thesis Entitled A Visual Screen for Centriolar Mutants in
... CPAP, their localization is not restricted to the centriole’s proximal end (Blanchon 2009; Mottier-Pavie 2009). Mammalian Centrobin is a centriolar protein that prevents degradation of CPAP. Therefore mutations in human Centrobin indirectly cause short centrioles through loss of centriolar CPAP (Gud ...
... CPAP, their localization is not restricted to the centriole’s proximal end (Blanchon 2009; Mottier-Pavie 2009). Mammalian Centrobin is a centriolar protein that prevents degradation of CPAP. Therefore mutations in human Centrobin indirectly cause short centrioles through loss of centriolar CPAP (Gud ...
EPHX1 polymorphisms, COPD and asthma in 47,000 individuals and in meta-analysis
... to chronic obstructive pulmonary disease (COPD) and asthma. We genotyped participants from the Copenhagen City Heart Study (n510,038) and the Copenhagen General Population Study (n537,022) for the T113C and A139G variants in the EPHX1 gene and measured lung function and recorded COPD hospitalisation ...
... to chronic obstructive pulmonary disease (COPD) and asthma. We genotyped participants from the Copenhagen City Heart Study (n510,038) and the Copenhagen General Population Study (n537,022) for the T113C and A139G variants in the EPHX1 gene and measured lung function and recorded COPD hospitalisation ...
The qSD12 Locus Controls Offspring Tissue-Imposed
... inhibitor leaching, and other effects. A genetic approach, which is based on the difference in germinability between reciprocal hybrid F1 seeds, was also used to infer dormancy types (Nair et al. 1965; Noll et al. 1982; Seshu and Sorrells 1986; Flintham 2000). Reciprocal difference detected by the g ...
... inhibitor leaching, and other effects. A genetic approach, which is based on the difference in germinability between reciprocal hybrid F1 seeds, was also used to infer dormancy types (Nair et al. 1965; Noll et al. 1982; Seshu and Sorrells 1986; Flintham 2000). Reciprocal difference detected by the g ...
The Genetic Basis of Differences in Cation
... Five plasmodial strains (A-E) having low sensitivity to all cations and regarded as heterozygous for all three sensitivity loci were sporulated and amoeba clones isolated. These were mated to LU 21 3 (mon2, mag2, ca12) and the cation sensitivities of the resulting plasmodia recorded (Table 3). Data ...
... Five plasmodial strains (A-E) having low sensitivity to all cations and regarded as heterozygous for all three sensitivity loci were sporulated and amoeba clones isolated. These were mated to LU 21 3 (mon2, mag2, ca12) and the cation sensitivities of the resulting plasmodia recorded (Table 3). Data ...
ABO genotyping in leukemia patients reveals new ABO variant alleles
... The ABO blood group is the most important blood group system in transfusion medicine and organ transplantation. Using classical serological studies, it is possible to classify individuals into four blood groups (A, B, O, and AB). Numerous phenotypes with weak expression of A and B on red cells have ...
... The ABO blood group is the most important blood group system in transfusion medicine and organ transplantation. Using classical serological studies, it is possible to classify individuals into four blood groups (A, B, O, and AB). Numerous phenotypes with weak expression of A and B on red cells have ...
Genetic factors affecting dental caries risk
... This article reviews the literature on genetic aspects of dental caries and provides a framework for the rapidly changing disease model of caries. The scope is genetic aspects of various dental factors affecting dental caries. The PubMed database was searched for articles with keywords ‘caries’, ‘ge ...
... This article reviews the literature on genetic aspects of dental caries and provides a framework for the rapidly changing disease model of caries. The scope is genetic aspects of various dental factors affecting dental caries. The PubMed database was searched for articles with keywords ‘caries’, ‘ge ...
Functional Analysis of Maize RAD51 in Meiosis and
... and develop well under normal conditions, but are male sterile and have substantially reduced seed set. Light microscopic analyses of male meiosis in these plants reveal reduced homologous pairing, synapsis of nonhomologous chromosomes, reduced bivalents at diakinesis, numerous chromosome breaks at ...
... and develop well under normal conditions, but are male sterile and have substantially reduced seed set. Light microscopic analyses of male meiosis in these plants reveal reduced homologous pairing, synapsis of nonhomologous chromosomes, reduced bivalents at diakinesis, numerous chromosome breaks at ...
The X Chromosome in Quantitative Trait Locus Mapping
... methods and computer programs have been developed to map QTL. Virtually all of this work has focused exclusively on autosomal loci. However, the X chromosome displays special behavior and must be treated differently in QTL mapping. Often crosses are set up to avoid recombination on the X chromosome. ...
... methods and computer programs have been developed to map QTL. Virtually all of this work has focused exclusively on autosomal loci. However, the X chromosome displays special behavior and must be treated differently in QTL mapping. Often crosses are set up to avoid recombination on the X chromosome. ...
Student Study Outline Ch24
... (Outcome 24.5.11) 8. Examples of X-linked recessive traits are ______________ _________________________________________________________________ . (Outcome 24.5.11) 9. If a mother is heterozygous for a particular X-linked gene, her son has a __________________________________________________________ ...
... (Outcome 24.5.11) 8. Examples of X-linked recessive traits are ______________ _________________________________________________________________ . (Outcome 24.5.11) 9. If a mother is heterozygous for a particular X-linked gene, her son has a __________________________________________________________ ...
The Genes of Watermelon
... al., 1941) for red, tan, and white seed coat, respectively. The genes interact to produce six phenotypes: black (RR TT WW); clump (RR TT ww); tan (RR tt WW); white with tan tip (RR tt ww); red (rr tt WW); and white with pink tip (rr tt ww). A fourth gene, d was suggested by Poole et al. (1941) as a ...
... al., 1941) for red, tan, and white seed coat, respectively. The genes interact to produce six phenotypes: black (RR TT WW); clump (RR TT ww); tan (RR tt WW); white with tan tip (RR tt ww); red (rr tt WW); and white with pink tip (rr tt ww). A fourth gene, d was suggested by Poole et al. (1941) as a ...
Mendel and Genetics Intro – Period 2 CP Biology
... Only ONE of each type of gene should be present!) ________________________________________________________________ ________________________________________________________________ ...
... Only ONE of each type of gene should be present!) ________________________________________________________________ ________________________________________________________________ ...
CFTR Mutations in Congenital Absence of Vas Deferens
... mutation. In the CBAVD patients in which a mutation is found on both CFTR genes, about 88% of them carry one severe mutation on one CFTR gene and a mild mutation on the second CFTR gene, and about 12% carry mild mutations on both CFTR genes (7). This in contrast to CF, were about 88% of the CF patie ...
... mutation. In the CBAVD patients in which a mutation is found on both CFTR genes, about 88% of them carry one severe mutation on one CFTR gene and a mild mutation on the second CFTR gene, and about 12% carry mild mutations on both CFTR genes (7). This in contrast to CF, were about 88% of the CF patie ...
The molecular basis of human retinal and vitreoretinal
... Dryja et al., 1990; Morimura et al., 1999; Pierce et al., 1999; Sullivan et al., 1999). The majority of cases (50-60%) are autosomal recessive, sporadic or simplex (Hartong et al., 2006). Also, families with autosomal dominant (30-40%) and X-linked inheritance (5-20%) are frequently observed. Matern ...
... Dryja et al., 1990; Morimura et al., 1999; Pierce et al., 1999; Sullivan et al., 1999). The majority of cases (50-60%) are autosomal recessive, sporadic or simplex (Hartong et al., 2006). Also, families with autosomal dominant (30-40%) and X-linked inheritance (5-20%) are frequently observed. Matern ...
Sequence Polymorphisms at the Reduced Dormancy 5
... germination under (temporary) favorable conditions and can delay seedling establishment until the ...
... germination under (temporary) favorable conditions and can delay seedling establishment until the ...
Technical standards and guidelines for spinal muscular atrophy testing
... Homozygous mutations of the SMN1 gene cause SMA. Both copies of the SMN1 gene are absent in approximately 95% of affected patients, whereas the remaining patients have nonsense, frameshift, or missense mutations within the gene.16 Based on Hardy-Weinberg equilibrium, the remaining patients (with the ...
... Homozygous mutations of the SMN1 gene cause SMA. Both copies of the SMN1 gene are absent in approximately 95% of affected patients, whereas the remaining patients have nonsense, frameshift, or missense mutations within the gene.16 Based on Hardy-Weinberg equilibrium, the remaining patients (with the ...
Daniël van Draanen - Utrecht University Repository
... Many studies have been done specifically on scientific use and educational use and understanding of the concept gene and how the use and understanding of this concept can be improved in education (Portin, 1993; Boujemaa et al. 2010; Flodin, 2009). However, scientific use of the concepts phenotype an ...
... Many studies have been done specifically on scientific use and educational use and understanding of the concept gene and how the use and understanding of this concept can be improved in education (Portin, 1993; Boujemaa et al. 2010; Flodin, 2009). However, scientific use of the concepts phenotype an ...
The use of genetic markers in poultry breeding
... experiments to map marker loci. Inbred lines are widely used in laboratory animals and plants. For livestock species completely inbred lines are not available. Methods using information from segregating populations have been developed in human genetics (Morton 1955; Ott 1991). Here, the influence of ...
... experiments to map marker loci. Inbred lines are widely used in laboratory animals and plants. For livestock species completely inbred lines are not available. Methods using information from segregating populations have been developed in human genetics (Morton 1955; Ott 1991). Here, the influence of ...
Characterisation of interstitial duplications and triplications of
... showed that, in all cases, the duplications and triplications involved the PWACR and were not pseudogene expansions. Retrospective cytogenetic analysis in families 7 and 13 did not identify these duplications clearly. The size of the pericentromeric area of 15q varies greatly within the normal popul ...
... showed that, in all cases, the duplications and triplications involved the PWACR and were not pseudogene expansions. Retrospective cytogenetic analysis in families 7 and 13 did not identify these duplications clearly. The size of the pericentromeric area of 15q varies greatly within the normal popul ...
Chromosome location and characterization of genes for grain
... contributing to their low grain yield. LDN(521-3A) produced weak plants and were the shortest in plant height and they had the smallest spikes of the LDN-DIC lines. LDN(742-2B) produced weak stands, with plants significantly shorter than LDN, and had the highest severity of foliar diseases such as t ...
... contributing to their low grain yield. LDN(521-3A) produced weak plants and were the shortest in plant height and they had the smallest spikes of the LDN-DIC lines. LDN(742-2B) produced weak stands, with plants significantly shorter than LDN, and had the highest severity of foliar diseases such as t ...
Dominance (genetics)
Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus. The first allele is dominant and the second allele is recessive. For genes on an autosome (any chromosome other than a sex chromosome), the alleles and their associated traits are autosomal dominant or autosomal recessive. Dominance is a key concept in Mendelian inheritance and classical genetics. Often the dominant allele codes for a functional protein whereas the recessive allele does not.A classic example of dominance is the inheritance of seed shape, for example a pea shape in peas. Peas may be round, associated with allele R or wrinkled, associated with allele r. In this case, three combinations of alleles (genotypes) are possible: RR, Rr, and rr. The RR individuals have round peas and the rr individuals have wrinkled peas. In Rr individuals the R allele masks the presence of the r allele, so these individuals also have round peas. Thus, allele R is dominant to allele r, and allele r is recessive to allele R. This use of upper case letters for dominant alleles and lower caseones for recessive alleles is a widely followed convention.More generally, where a gene exists in two allelic versions (designated A and a), three combinations of alleles are possible: AA, Aa, and aa. If AA and aa individuals (homozygotes) show different forms of some trait (phenotypes), and Aa individuals (heterozygotes) show the same phenotype as AA individuals, then allele A is said to dominate or be dominant to or show dominance to allele a, and a is said to be recessive to A.Dominance is not inherent to an allele. It is a relationship between alleles; one allele can be dominant over a second allele, recessive to a third allele, and codominant to a fourth. Also, an allele may be dominant for a particular aspect of phenotype but not for other aspects influenced by the same gene. Dominance differs from epistasis, a relationship in which an allele of one gene affects the expression of another allele at a different gene.