Text S1.
... ‘best’ at the mismatched position. In the fitness calculation, we required a minimum of 20 reads in T1 and (T1+T2)/2 must be >15 reads. Insertion sites in the last 10% of each gene were excluded as well as sites in intergenic regions. Expansion factor (d) was calculated as previously described by pl ...
... ‘best’ at the mismatched position. In the fitness calculation, we required a minimum of 20 reads in T1 and (T1+T2)/2 must be >15 reads. Insertion sites in the last 10% of each gene were excluded as well as sites in intergenic regions. Expansion factor (d) was calculated as previously described by pl ...
No Slide Title
... The evolution of olfactory receptor gene repertoires Vertebrate olfactory receptors genes are classified into at least nine subfamiles (a, b, g, d, e, z, h, q, and k), each of which originated from one or a few ancestral genes in the most recent common ancestor of vertebrates. There was an enormous ...
... The evolution of olfactory receptor gene repertoires Vertebrate olfactory receptors genes are classified into at least nine subfamiles (a, b, g, d, e, z, h, q, and k), each of which originated from one or a few ancestral genes in the most recent common ancestor of vertebrates. There was an enormous ...
Mutations - GK-12 Program at the University of Houston
... There are several other syndromes caused by these mutations, the recommended homework is for the students to research some syndrome caused by extra or missing chromosomes and write a short paragraph detailing which chromosome is altered and what the effects are. What can influence mutations? Mutatio ...
... There are several other syndromes caused by these mutations, the recommended homework is for the students to research some syndrome caused by extra or missing chromosomes and write a short paragraph detailing which chromosome is altered and what the effects are. What can influence mutations? Mutatio ...
Types of chromosome abnormalities
... • Short arrows indicate breakpoints in one homolog of each of two pairs of acrocentric chromosomes. The resulting fusion of the breaks yields one short and one long metacentric chromosome. • Under appropriate conditions, the short metacentric chromosome may be lost. Thus, we see a conversion from tw ...
... • Short arrows indicate breakpoints in one homolog of each of two pairs of acrocentric chromosomes. The resulting fusion of the breaks yields one short and one long metacentric chromosome. • Under appropriate conditions, the short metacentric chromosome may be lost. Thus, we see a conversion from tw ...
A Connective Tissue Disorders NGS Panel: Development
... data were analyzed to identify novel alterations as well as those previously reported in the Human Gene Mutation Database (HGMD). Identified alterations for a given patient were cross-referenced to those found for other samples within the same run, as well as to a cumulative database of ...
... data were analyzed to identify novel alterations as well as those previously reported in the Human Gene Mutation Database (HGMD). Identified alterations for a given patient were cross-referenced to those found for other samples within the same run, as well as to a cumulative database of ...
Prenatal diagnosis of phenylketonuria
... in south India 2,3. Appaji Rao 4 during screening of 172,369 newborns in Bangalore, detected six cases of PKU (1 in 28728 screened). PKU induced mental retardation can be prevented by a phenylalanine restricted diet, the special diet is difficult to obtain in India, and is expensive. It is not surpr ...
... in south India 2,3. Appaji Rao 4 during screening of 172,369 newborns in Bangalore, detected six cases of PKU (1 in 28728 screened). PKU induced mental retardation can be prevented by a phenylalanine restricted diet, the special diet is difficult to obtain in India, and is expensive. It is not surpr ...
pEGFP-N1 - ResearchGate
... pEGFP-N1 encodes a red-shifted variant of wild-type GFP (1–3) which has been optimized for brighter fluorescence and higher expression in mammalian cells. (Excitation maximum = 488 nm; emission maximum = 507 nm.) pEGFP-N1 encodes the GFPmut1 variant (4) which contains the double-amino-acid substitut ...
... pEGFP-N1 encodes a red-shifted variant of wild-type GFP (1–3) which has been optimized for brighter fluorescence and higher expression in mammalian cells. (Excitation maximum = 488 nm; emission maximum = 507 nm.) pEGFP-N1 encodes the GFPmut1 variant (4) which contains the double-amino-acid substitut ...
PDF
... (XXY or XY), SRY-negative XX DSD or SRY-positive XX DSD. Our study showed for the first time that transition of a fragment of the Y chromosome, harbouring the SRY gene, to the X chromosome is responsible for SRY-positive XX DSD in this species. Elucidation of the mechanism responsible for the report ...
... (XXY or XY), SRY-negative XX DSD or SRY-positive XX DSD. Our study showed for the first time that transition of a fragment of the Y chromosome, harbouring the SRY gene, to the X chromosome is responsible for SRY-positive XX DSD in this species. Elucidation of the mechanism responsible for the report ...
Slide 1
... cDNA microarray experiments, 242 SAGE libraries and 667 Affymetrix oligonucleotide microarray experiments. The three datasets compared demonstrate significant but low levels of global concordance. Assessment against the Gene Ontology (GO) revealed that all three platforms identified more co-expresse ...
... cDNA microarray experiments, 242 SAGE libraries and 667 Affymetrix oligonucleotide microarray experiments. The three datasets compared demonstrate significant but low levels of global concordance. Assessment against the Gene Ontology (GO) revealed that all three platforms identified more co-expresse ...
Stress syndrome: Ryanodine receptor (RYR1) gene in malignant
... can be used in selection of swine for increased museu1arityand leanness. However, it is likely that each breed should be tested for live performance and carcass characteristic, comparing them among normal, heterozygous, and homozygous for PSS mutation to get the economic impact of the beneficial eff ...
... can be used in selection of swine for increased museu1arityand leanness. However, it is likely that each breed should be tested for live performance and carcass characteristic, comparing them among normal, heterozygous, and homozygous for PSS mutation to get the economic impact of the beneficial eff ...
Genomic structure and mutational analysis of the human
... heterogeneity (1). Cytogenetic studies have suggested that deletion of the short arm of chromosome 1 (1p) occurs frequently in NB and is associated with a poor prognosis (2-5). Recent molecular studies have shown that a relatively high rate of loss of heterozygosity (LOH) was observed in 1p as well ...
... heterogeneity (1). Cytogenetic studies have suggested that deletion of the short arm of chromosome 1 (1p) occurs frequently in NB and is associated with a poor prognosis (2-5). Recent molecular studies have shown that a relatively high rate of loss of heterozygosity (LOH) was observed in 1p as well ...
CHANGES TO THE GENETIC CODE
... either not make the right protein product, make it in reduced amounts or not make it at all (see Figure 4.1) • Faulty genes (mutated genes) may cause a problem with the development and functioning of different body systems or organs and result in a genetic condition (see Genetics Fact Sheet 2) • F ...
... either not make the right protein product, make it in reduced amounts or not make it at all (see Figure 4.1) • Faulty genes (mutated genes) may cause a problem with the development and functioning of different body systems or organs and result in a genetic condition (see Genetics Fact Sheet 2) • F ...
A Chromosome 21 Critical Region Does Not Cause Specific Down
... by sequencing (Fig. 1, C and D). Metaphase and interphase fluorescence in situ hybridization (FISH) demonstrated the predicted association of signals from the duplicated and deleted chromosomes (Fig. 1, E and F). These karyotypically normal ES lines were injected into blastocysts and one of the resu ...
... by sequencing (Fig. 1, C and D). Metaphase and interphase fluorescence in situ hybridization (FISH) demonstrated the predicted association of signals from the duplicated and deleted chromosomes (Fig. 1, E and F). These karyotypically normal ES lines were injected into blastocysts and one of the resu ...
04BIO201 Exam 1 key
... I pledge that I have neither given nor received unauthorized assistance during the completion of this work. Signature: _________________________________________________________ ...
... I pledge that I have neither given nor received unauthorized assistance during the completion of this work. Signature: _________________________________________________________ ...
Lecture 14 - The Chromosomal Basis of Inheritance
... • Aneuploidy occurs in 1 in 160 live births • Most aneuploidies result in spontaneous abortion • Most common error is trisomy 16 – not possible to survive • Risk of aneuploidy increases with the age of the mother ...
... • Aneuploidy occurs in 1 in 160 live births • Most aneuploidies result in spontaneous abortion • Most common error is trisomy 16 – not possible to survive • Risk of aneuploidy increases with the age of the mother ...
From Gene to Carcinogen: A Rapidly Evolving Field in
... mately termed "spontaneous." The frequency of transitions at CpG locations thus appears to give a measure of the rate of endogenous mutations in a particular gene. A lessening of the proportion of mutations occurring at CpGs (specifically, CpG to TpG or CpA transitions) would be indicative that a ch ...
... mately termed "spontaneous." The frequency of transitions at CpG locations thus appears to give a measure of the rate of endogenous mutations in a particular gene. A lessening of the proportion of mutations occurring at CpGs (specifically, CpG to TpG or CpA transitions) would be indicative that a ch ...
Variations in the correlation of Gene Ontology annotations with
... Informatics, University of Edinburgh The assignment of Gene Ontology (GO) terms to proteins has become an important method for characterising the function, process and cellular component of a protein such that comparisons can be made between proteins and their roles within and between species. Seman ...
... Informatics, University of Edinburgh The assignment of Gene Ontology (GO) terms to proteins has become an important method for characterising the function, process and cellular component of a protein such that comparisons can be made between proteins and their roles within and between species. Seman ...
genetic disorder of haemoglobin
... • Excess -chains precipitate in RBC’s causing severe ineffective erythropoiesis and haemolysis. • The greater the -chains, the more severe the anaemia. • Production of -chains helps to remove excess -chains and to improve the -thalassaemia. Often HbF level is increased. • Majority of -thalassa ...
... • Excess -chains precipitate in RBC’s causing severe ineffective erythropoiesis and haemolysis. • The greater the -chains, the more severe the anaemia. • Production of -chains helps to remove excess -chains and to improve the -thalassaemia. Often HbF level is increased. • Majority of -thalassa ...
A Founder Mutation in Artemis, an SNM1
... Ku 80/70 complex, XRCC4, and DNA ligase IV, which are essential factors for the general nonhomologous end joining machinery. To date, no human SCID cases have been associated with mutations in the above factors, which have also been excluded from causing RS-SCID or SCIDA (8, 11). In an attempt to id ...
... Ku 80/70 complex, XRCC4, and DNA ligase IV, which are essential factors for the general nonhomologous end joining machinery. To date, no human SCID cases have been associated with mutations in the above factors, which have also been excluded from causing RS-SCID or SCIDA (8, 11). In an attempt to id ...
UNIT II GENETIC ENGINEERING OF PLANTS AND APPLICATIONS
... Another way of imparting insect resistance to susceptible plants entails using a gene that encodes an α-amylase inhibitor. The cowpea weevil (Calosobruchus maculatus) and azuki bean weevil (Callosobruchus chmnensis) are seed-feeding beetles that both cause considerable economic loss of these crops, ...
... Another way of imparting insect resistance to susceptible plants entails using a gene that encodes an α-amylase inhibitor. The cowpea weevil (Calosobruchus maculatus) and azuki bean weevil (Callosobruchus chmnensis) are seed-feeding beetles that both cause considerable economic loss of these crops, ...
Saethre–Chotzen syndrome
Saethre–Chotzen syndrome (SCS), also known as Acrocephalosyndactyly type III is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face. Individuals with SCS also have droopy eyelids (ptosis), widely spaced eyes (hypertelorism), and minor birth defects of the hands and feet (syndactyly). In addition, individuals with more severe cases of SCS may have mild to moderate mental retardation or learning disabilities. Depending on the level of severity, some individuals with SCS may require some form of medical or surgical intervention. Most individuals with SCS live fairly normal lives, regardless of whether medical treatment is needed or not.