41. Individual_Differences: Problems In Relating Genotype To Phenotype Problems in relating genotype to phenotype. Different approaches to relating genotypeto phenotype in developmental disorders. Developmental Psychobiology. http://www.ecs.soton.ac.uk/~mrm/Hypermail/Individual_Differences/0018.html

Problems in relating genotype to phenotype From: Ann Dowker ( ann.dowker@st-annes.oxford.ac.uk Date: Wed Feb 19 2003 - 21:45:14 GMT Next message: M Munafo: "Reliability and Validity II." Previous message: M Munafo: "Lecture Slides." Messages sorted by: [ date ] [ thread ] [ subject ] [ author ] ... [ attachment ] ('binary' encoding is not supported, stored as-is) Annette Karmiloff-Smith and her colleagues have recently written some quite interesting comments on the problems of relating genotype to phenotype; and the possible limitations in applying molecular genetics to behavioural issues. Their predominant interest is in developmental disorders; but I think that some of the points raised might apply to *any* characteristic that develops over time. For example, some of these issues are discussed in the following paper: Karmiloff-Smith, A., Scerif, G. and Thomas, M. (in press). Different approaches to relating genotype to phenotype in developmental disorders. Developmental Psychobiology. In this paper, the authors begin by criticizing the view that there are specific genes or sets of genes for certain specific cognitive functions (e.g. grammar, number understanding). They write: "Two issues are at stake: how *direct* the relationship between genes and cognitive processes may be, and how *specific*. It is uncontroversial that a single gene product cannot construct cognition (although some appear tempted by this idea because the lack of a single gene product can sometimes *impair* cognition). The issue of *directness* relates to how precise a role any group of genes will have in determining the structure and content of any subsequent cognitive module. It is our contention that no combination of gene effects will alone determine a cognitive structure. Necessarily, the environment plays a causal role... whether that environment constitutes the biochemical environment affecting cell differentiation, the prenatal nutritional environment affecting development of the fetus, or the environment of the external world with which the individual interacts during the process of cognitive development."

42. NEJM -- The Relation Between Genotype And Phenotype In Cystic Fibrosis--analysis Original Article from The New England Journal of Medicine The relation betweengenotype and phenotype in cystic fibrosisanalysis of the most common http://content.nejm.org/cgi/content/short/323/22/1517

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Previous Volume 323:1517-1522 November 29, 1990 Number 22 Next The relation between genotype and phenotype in cystic fibrosisanalysis of the most common mutation (delta F508) E Kerem, M Corey, BS Kerem, J Rommens, D Markiewicz, H Levison, LC Tsui, and P Durie Table of Contents Find Similar Articles in the Journal Notify a friend about this article Add to Personal Archive ... Related Articles in Medline Articles in Medline by Author: Kerem, E. Durie, P. Medline Citation Abstract Source Information Department of Genetics, Hospital for Sick Children, Toronto, ON, Canada. This article has been cited by other articles: Accurso, F. J., Sontag, M. K. (2003). Seeking Modifier Genes in Cystic Fibrosis. Am J Respir Crit Care Med [Full Text] KIDD, J. F., BEAR, C. E. (2002). Epithelial Cell Chloride Channel Activity Correlates with Improved Airway Function in Cystic Fibrosis Patients with the Major Mutant: Delta F508. Pediatr Res [Full Text] Shidrawi, R G, Murugan, N, Westaby, D, Gyi, K, Hodson, M E (2002). Emergency colonoscopy for distal intestinal obstruction syndrome in cystic fibrosis patients. Gut [Full Text] SELVADURAI, H. C., MCKAY, K. O., BLIMKIE, C. J., COOPER, P. J., MELLIS, C. M., VAN ASPEREN, P. P. (2002). The Relationship between Genotype and Exercise Tolerance in Children with Cystic Fibrosis.

43. NEJM -- Correlation Between Genotype And Phenotype In Patients With Cystic Fibro Original Article from The New England Journal of Medicine Correlationbetween genotype and phenotype in Patients with Cystic Fibrosis. http://content.nejm.org/cgi/content/short/329/18/1308

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Previous Volume 329:1308-1313 October 28, 1993 Number 18 Next Correlation between Genotype and Phenotype in Patients with Cystic Fibrosis The Cystic Fibrosis Genotype-Phenotype Consortium Table of Contents Full Text of this article Related Letters to the Editor Find Similar Articles in the Journal ... Medline Citation ABSTRACT Background Cystic fibrosis is the most common lethal autosomal recessive disorder among whites. Seventy-two percent of patients with this disease are homozygotes or compound heterozygotes for eight mutations of the cystic fibrosis transmembrane conductance regulator gene on chromosome 7: F N1303K, 621+1G-to-T, 1717-1G-to-A, and R117H. We studied the relation between genotype and phenotype in patients from 14 countries. Methods Each of 399 patients who were compound heterozygotes for F and one other mutation was matched with the F homozygote of the same sex who was the closest in age from the same center. A paired analysis was performed of the following outcome variables: age at diagnosis, sweat chloride concentration, growth percentiles

44. Non-linear Mapping From Genotype To Phenotype Nonlinear mapping from genotype to phenotype. This phenotype is nownon-linearly related to the coding, or genotype of the problem. http://carol.wins.uva.nl/~roel/metazoan/node3.html

Next: Generation and maintenance of Up: Introduction Previous: Introduction Non-linear mapping from genotype to phenotype For many years the study of evolution has been shown to be fruitful without taking into account that there is no such thing as direct mapping from the coding of an organism to its fitness evaluation. In such studies on evolutionary dynamics a change in the genotype of an organism results in an equivalent change in its phenotype. The last decennia however, a number of paradigm systems have been developed that do include a non-linear genotype to phenotype transition. These systems include NK-landscapes [ ] and models on RNA-evolution [ ], but also genetic algorithms (GA) [ ] and genetic programming (GP) [ ]. The study of these paradigm systems has, or should have, profoundly reformed thinking on evolutionary change. Although genetic algorithms were designed not primarily for the study of evolutionary dynamics, they offer important insight into the behaviour of evolutionary systems having a non-linear genotype-phenotype mapping. In genetic algorithms, a solution to a predefined computational problem is ``evolved'' by selecting possible solutions from a population. The solutions that are more able to cope with the problem than their brothers and sisters reproduce and form a new population. During this reproduction small changes are made to the solutions by means of genetic operators such as point mutations and cross-overs. In many of these genetic algorithms the problems comprise the setting of parameters in a predefined system. In some genetic algorithms however the solution to a predefined computational problem is coded in a representation that is non-linearly related to the actual solution. For example, the parameter setting of a system could be encoded in a bitstring. If each bit in this would have an equal chance of being mutated a change from, say, 127 to 255 would be as probable as a change from 254 to 255. The performance of the solution to the problem that this bitstring represents can be seen as its phenotype. This phenotype is now non-linearly related to the coding, or

45. Heredity - Genotype & Phenotype/13 Mangile's Pigeon Pages genotype phenotype. The silky plumage is part ofits phenotype and the gene that produced it is part of its genotype. http://www.apexcorp.com/~rmangile/Pigeons/Genetics/Gene_P13.html

Mangile's Pigeon Pages To achieve a modicum of breeding success, it is important that breeders understand the difference between - the reproductive potential and the external appearance of an individual; whether it be plant or animal. The genetic constitution, or genotype , represents the sum total of an individuals breeding potential. That same individual's entire genetic package in a pre-orchestrated, cumulative action - is the primary force that produces the characteristics of that individual. However, it may possess many genes that play no role toward the expression of its phenotype, but when passes to its offspring may produce characteristics not seen in the parent. Generally, the offspring receives (inherits) half of its genes from each parent. It is the combined actions of countless numbers of genes that produce the observable characteristics we see and evaluate. Only the genes (not the characteristics) are passed on to the offspring; which in turn produce the characteristics of the new individual. For example: Silky plumage in pigeons is not inherited ; but the gene that produces the silky plumage is inherited . The silky plumage is part of its phenotype and the gene that produced it is part of its genotype With some experience, parts of a birds genotype can be determined by its outward appearance. Breeding tests may be necessary to determine more about a birds genotype. The two examples below have different phenotypes as well as different genotypes; without breeding records, a breeder can only rely on the birds outward appearance (phenotype) to determine, only part, of its genotype.

46. Genotype And Phenotype genotype and phenotype. AllelesYou has two chromosomes called homologues. O= no antigen on RBC; phenotype and genotype of A, B, O blood types. http://www.hartnell.cc.ca.us/faculty/asteinhardt/mywebs/Genetics.htm

Genotype and Phenotype Alleles-You has two chromosomes called homologues. They carry alternative forms of the same gene, at the same locus, called alleles. A letter is used to represent a gene. A dominant gene is uppercase, a recessive is lowercase. One allele comes from each parent. This is your genotype. Dominant means it is the trait that is expressed or seen in the phenotype (what you look like) Recessive Homozygous EE, or ee Heterozygous Ee What are the chances of a child having a trait? Use a Punnett square. Dominant and Recessive Recessive disorders take two alleles Draw a pedigree chart to study patterns of inheritance. Males are squares and females are circles. If a recessive trait is seen in children of normal parents then the parents are heterozygous carriers. Example is cystic fibrosis. Lethal genetic disease among Caucasians. One in 5 is a carrier, 1 in 2500 kids have this disorder. Very thick mucus in lungs. The gene is located on chromosome 7. Someday they will put copies of the normal gene into lungs of the patients. Tay Sachs disease found in Jewish people. Development slows at age 4-8 months. Neurological impairment, motor difficulties, blindness, seizures, paralysis and death by age 3-4. In late onset symptoms are mental motor deterioration, depression, schizophrenia, premature death. In late onset disease the gene Hexaminidase A has a pair of bases wrong on Chromosome 1. Without Hex A too much glycosphingolipid in lysomsomes in the brain. Test for Hex A activity. Amniocentesis or chorionic villi sampling can detect carriers.

47. Arch Neurol -- Page Not Found Mutation Analysis and the Correlation Between genotype and phenotype of Arg778LeuMutation in Chinese Patients With Wilson Disease Author Information ZhiYing http://archneur.ama-assn.org/issues/v58n6/abs/noc00221.html

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery MSJAMA Science News Updates Meetings Peer Review Congress The page you requested was not found. The JAMA Archives Journals Web site has been redesigned to provide you with improved layout, features, and functionality. The location of the page you requested may have changed. To find the page you requested, click here HOME CURRENT ISSUE PAST ISSUES ... HELP Error 404 - "Not Found"

48. ClinicalTrials.gov - Linking Patients To Medical Research: Study Details Turner Syndrome genotype and phenotype. This study is currently recruitingpatients. Sponsored by National Institute of Child Health http://www.clinicaltrials.gov/ct/gui/show/NCT00006334?order=13

49. Genotype And Phenotype The summary for this Japanese page contains characters that cannot be correctly displayed in this language/character set. http://www.hannan-u.ac.jp/~tsutsui/ga-intro/sld005.htm

50. Genotype And Phenotype The summary for this Japanese page contains characters that cannot be correctly displayed in this language/character set. http://www.hannan-u.ac.jp/~tsutsui/ga-intro/tsld005.htm

Genotype and Phenotype ‘O‚̽ײÄÞ

51. VIP: Mendelian Genetics P, phenotype genotype x, phenotype genotype F1 are all phenotypegenotype F1 x F1 F2, phenotype genotype phenotype genotype http://koning.ecsu.ctstateu.edu/Plants_Human/vipmendel.html

Course Schedule Plant Phys Info Homepage Email Ross Koning Mendelian Genetics True breeding tall peas are crossed with true breeding dwarf peas. The resulting progeny are all tall . This outcome tells you that: tall dwarf is dominant to tall dwarf and that you should use the symbols T/t D/d for the logic. P phenotype: genotype: x phenotype: genotype: F1 are all: phenotype: genotype: F1 x F1 phenotype: genotype: phenotype: genotype: phenotype: genotype: phenotype: genotype: The two possible test-crosses: phenotype: genotype: x phenotype: genotype: phenotype: genotype: phenotype: genotype: phenotype: genotype: phenotype: genotype: and/or phenotype: genotype: x phenotype: genotype: phenotype: genotype: phenotype: genotype: phenotype: genotype: phenotype: genotype: Go to the Course Schedule Page Go to the Plant Physiology Information Homepage Send comments and bug reports to Ross Koning at rkoning@snet.net View the

52. Abstract: Baseline Genotype And Phenotype Do Not Predict Response To ABT-378/Rit Abstract Baseline genotype and phenotype Do Not Predict Response toABT378/Ritonavir in PI-Experienced Patients at 24 and 48 Weeks. http://www.medadvocates.org/conferences/7th_Retro/abt_48wks.html

7th Conference on Retroviruses and Opportunistic Infections January 30-February 2, 2000 Abstract: Baseline Genotype and Phenotype Do Not Predict Response to ABT-378/Ritonavir in PI-Experienced Patients at 24 and 48 Weeks Gulick R 1, King M 11, Brun S 11, Real K 11, Murphy R 2, Hicks C 3, Eron J 4, Thommes J 5, Glesby M 1, Thompson M 6, White C7, Benson C 8, Albrecht M 9, Kessler H10, Hsu A 11, Bertz R11, Kempf D 11, Sun E11 and Japour A 11 for the M97-720 Study Group Share this Abstract with a Colleague Background Objective: To analyze the virologic response in Study M97-765 after 24 and 48 weeks with respect to baseline viral phenotype and genotype. Methods: Baseline phenotype was measured by the Antivirogram® method. Baseline genotype was determined by population sequencing. Virologic response was analyzed using logistic regression. Results: Conclusion: D. KEMPF*1, Y. XU1, S. BRUN1, M. KING1, H. MO1, K. REAL1, B. BERNSTEIN1, K. HERTOGS2, B. LARDER3, A. MOLLA1, A. JAPOUR1, E. SUN1, and the M97-765 Study Team. 1Abbott Labs., Chicago, IL; 2VIRCO, Mechelen, Belgium, and 3Cambridge, UK TOP Abstract: Baseline Genotype and Phenotype Do Not Predict Response to ABT-378/Ritonavir in PI-Experienced Patients at 24 and 48 Weeks © 2000 Medical Advocates for Social Justice 225 West Washington Street, Suite 2200, Chicago, IL 60606

53. Poster: Baseline Genotype And Phenotype Do Not Predict Response To ABT-378/riton Poster Baseline genotype and phenotype Do Not Predict Response to ABT378/ritonavir(ABT-378/r) in PI-Experienced HIV+ Patients at 24 and 48 weeks. http://www.medadvocates.org/conferences/7th_Retro/abt_baseline.html

7th Conference on Retroviruses and Opportunistic Infections Jan 30 - Feb 2, 2000 San Francisco, CA Poster: Baseline Genotype and Phenotype Do Not Predict Response to ABT-378/ritonavir (ABT-378/r) in PI-Experienced HIV+ Patients at 24 and 48 weeks Kempf D , Xu Y , Brun S , King M , Mo H , Real K , Bernstein B , Hertogs K , Larder B , Molla A , Japour A , Sun E and the M97-765 Study Group Share this Poster with a Colleague Background Methods Results ... Presenter Affiliations Background The plasma levels of currently available HIV protease inhibitors (PIs) decline to mean concentrations that are 4-fold above their respective human serum-adjusted EC values. The virologic response to salvage therapy with current PIs is attenuated in those patients whose viruses display a 4-fold shift in susceptibility in vitro to the new regimen at the time of therapy switch. The relevance of modest changes in susceptibility to other agents whose pharmacokinetic characteristics are substantially different from those of current PIs needs to be critically examined. ABT-378 is a new PI under clinical investigation for the therapy of HIV-1 infection. Combined with low-dose ritonavir, which inhibits its metabolism, ABT-378 maintains average trough plasma concentrations that are

54. Reasons For Discrepany Between Genotype And Phenotype Reasons for discrepany between genotype and phenotype. Aspects of miceand human biology are different (eg Rb KO). Redundancy products http://biochem.uwa.edu.au/TEACHING/3rd_Year/MGG330/Lectures/Develop_Cancer/tsld0

Reasons for discrepany between genotype and phenotype Aspects of mice and human biology are different (e.g. Rb KO) Redundancy - products of a related gene compensates qualitatively and quantitatively. Other signalling pathways can compensate for loss. Function of gene deduced from in vitro studies is not the same as in vivo. Previous slide Next slide Back to first slide View graphic version

55. Reasons For Discrepany Between Genotype And Phenotype First Previous Next Last Index Home Text. Slide 3 of 34. http://biochem.uwa.edu.au/TEACHING/3rd_Year/MGG330/Lectures/Develop_Cancer/sld00

56. A3243G - Abstract - Genotype To Phenotype Correlations In Mitochondrial Encephal Publication J Neurol 1995 May;242(5)30412 genotype to phenotype correlationsin mitochondrial encephalomyopathies associated with the A3243G mutation of http://www.a3243g.com/abstract_pm_7643139.asp

A G mtDNA Advertisement Above An A to G point mutation at position 3243 on the Mitochondrial DNA causes MELAS and MIDD Home Information Abstracts ... What's New Abstract Publication: J Neurol 1995 May;242(5):304-12 Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA. Mariotti C, Savarese N, Suomalainen A, Rimoldi M, Comi G, Prelle A, Antozzi C, Servidei S, Jarre L, DiDonato S, et al. Istituto Nazionale Neurologico Carlo Besta, Divisione di Biochimica e Genetica, Milan, Italy. Original Abstract Date Page Updated: 14 September 2002 Email this page to a friend. Feedback on this page. We subscribe to the HONcode principles. Verify here Terms Privacy Funding

57. A Probabilistic Representation Of Genotype And Phenotype In The Mouse A Probabilistic Representation of genotype and phenotype in the Mouse.Arthur W. Toga, University of California at Los Angeles. The http://www.nimh.nih.gov/neuroinformatics/probabilistic2002.cfm

A Probabilistic Representation of Genotype and Phenotype in the Mouse Arthur W. Toga, University of California at Los Angeles The aim of our Mouse Atlas Project is to develop and implement a dynamic, probabilistic atlas of the adult and developing C57BL/6J mouse. The atlas describes the mouse central nervous system in detail within a well-defined coordinate system. It also details the morphological variability across subjects within this strain as well as across maturational stages from in utero to adult. The data is comprised of in vivo and post mortem images. These include high field MRI and several histological stains. We have developed and validated most of the tools necessary to visualize, measure, spatially normalize (deformation correct) and map gene expression. We have also built a database to accommodate the data and query various aspects of it. In addition to these design-driven goals, we are testing several hypotheses using the aforementioned atlas and tools. The product of this effort is an atlas system for the C57BL/6J mouse, tools for using the atlas system, and evidence that enables the study of the linkage between brain mapping and gene mapping. Collaborators; Russell Jacobs - Caltech and Larry Swanson - USC Home Program Announcements Agency Contacts Research ... Something for Kids What's New Annual HBP Spring Meeting Workshops Neuroinformatics Interest Group Neuroscience Events ... Conferences Produced and updated by the National Institute of Mental Health.

58. The Relationship Between Genotype And Phenotype (i The relationship between genotype and phenotype (ie disease, weight, enzymeactivity, etc.) has been long sought after in quantitative genetics. http://ilya.wustl.edu/csna/Maxwell.htm

Utilizing Gene Trees to Associate Genetic Variation with Trait Variation The relationship between genotype and phenotype (i.e. disease, weight, enzyme activity, etc.) has been long sought after in quantitative genetics. Genes for analysis can be identified from known biochemical pathways and/or from intervals of DNA targeted by genome scans. These candidate genes are analyzed using single marker or multilocus (haplotype) association methods. Both have benefits and drawbacks relative to each other. For small regions of DNA with little recombination, an evolutionary approach using an unrooted phylogenetic tree (cladogram) of the haplotypes can be employed, combining some of the benefits of both approaches while avoiding some of their disadvantages. The tree provides an a priori limited set of all possible contrasts covering each transitonal step between haplotypes while salvaging sample size (statistical power). This can detect multilocus (variable sites within the region) effects, single marker effects (identified by mutational steps across the tree), and identify haplotype classes containing undetected mutations affecting the phenotype. Templeton has proposed two methods to define the set of contrasts: 1) a nested analysis (et. al 1988) which looks at genic effects, and 2) a tree scan approach (unpublished) analogous to interval mapping. The tree scan approach incorporates genotypic effects (dominance) enabling the contrasts defined by the tree to be incorporated into multigene epistasis studies.

59. BL 1. Using the information in Table 1, complete Table 2 by filling in the genotypeand phenotype of each gene pair. Organism. Gene. Combination. genotype. phenotype. http://www.nisk.k12.ny.us/nhs/bionet/genotypes and phenotypes.htm

BL - 19 NAME FINDING GENOTYPES AND PHENOTYPES FOR ONE TRAIT BACKGROUND The use of Punnett squares and the applications of Mendel's laws can allow us to predict the possible traits of the offspring of known parents. It is also often possible to determine the genetic makeup of parents by examining the genetic makeup of the offspring. OBJECTIVES In this activity you will: 1. Determine the genotypes and phenotypes of several organisms. 2. Make genetic crosses to study the inheritance of a single trait. 3. Make a test cross to determine whether the genotype of an organism is homozygous or heterozygous. PROCEDURES AND OBSERVATIONS Part I. Genotypes and Phenotypes The genetic makeup, or genotype , of a tall pea plant may be either TT or Tt. In either case the pea plant is tall because the gene for tallness is dominant. The genotype of a short pea plant must be tt. The appearance of an organism due to its genotype is called the phenotype When the two genes of a pair are the same, the organism is said to be

60. Trait.html Promises and Perils WYW Index Handout 4 genotype and phenotype Record Sheet. genotypeand phenotype Record Sheet activity 2, page 6. Gene, genotype, phenotype. http://www.accessexcellence.org/AB/WYW/wkbooks/PAP/phenotype.html

Handout 4: Genotype and Phenotype Record Sheet Genotype and Phenotype Record Sheet activity 2, page 6 1. Flip two coins to determine the genotype for each gene listed on Genetic Trait Chart . Heads represents a dominant allele , tails represents a recessive allele . Record the results in the Genotype column. 2. Use Genetic Trait Chart to determine the phenotype for each trait. Record the results in the Phenotype column. Gene Genotype Phenotype Finger Length Height 1 (w/ Height 2)* Communication Skills* Math Ability 1 (w/ Math Ability 2)* Hypercholesterolemia 1 (w/ Hypercholesterolemia 2)* Hypercholesterolemia 2 (w/ Hypercholesterolemia 1)* Stamina* Hair Type Math Ability 2 (w/ Math Ability 1)* Alcoholism 1 (w/ Alcoholism 2 and 3)* Alcoholism 2 (w/ Alcoholism 1 and 3)* Vision Height 2 (w/ Height 1)* Dimples Alcoholism 3 (w/ Alcoholism 1 and 2)* * Note that these traits may also be affected by the child's environment Links Activity: Genetic Inheritance Contents Glossary Resource Book Index: Promises and Perils Winding Your Way Through DNA Resource Book Index Winding Your Way Through DNA Lectures Index About Biotech Index Search Home Questions Email This Link

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