81. Genotype And Phenotype In Carriers Of Germline TP53 Mutations Varley, Jenny doi10.1038/87342 genotype and phenotype in carriers of germline TP53mutations Jenny Varley 1 , Gareth Evans 2 , Jillian Birch 3 Anna Kelsey 4. http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v27/n4s/full/ng0401s

82. Lecture 10 Biology 445/545 Evolution Dr. Brower Spring 2002. Lecture 10 genotype andphenotype. D. Further relationships between genotype and phenotype. http://www.ent.orst.edu/browera/Courses/Bio445-545/lecture10.htm

Biology 445/545 Evolution Dr. Brower Spring 2002 Lecture 10 Genotype and Phenotype A. Evolution as change through time in genotypes and resulting phenotypes 1. Discrete polymorphisms a. traits affected by a single major gene, small environmental effects b. dominant vs. recessive alleles 2. Continuous variation a. body size, fecundity, age of first reproduction b. affected by many genes and/or environment B. Hardy-Weinberg distribution 1. The Hardy-Weinberg Principle Alleles: A (dominant), a (recessive) p = frequency of A, q = frequency of a p + q = 1 Genotypes: AA Aa aa Frequency: p 2pq q p + 2pq + q 2. Assumptions of Hardy-Weinberg model a. infinitely large population size b. no mutation c. no selection d. no gene flow e. random mating 3. A population is at Hardy-Weinberg equilibrium if observed frequencies of genotypes are the same as those predicted from allele frequencies in HW model. C. Continuous character variation and quantitative genetics

83. 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.

84. Pediatrics : Relationship Among Genotype, Biochemical Phenotype, And Cognitive P Pediatrics Relationship Among genotype, Biochemical phenotype, and Cognitive Performancein Females With Phenylalanine Hydroxylase Deficiency Report From http://static.highbeam.com/p/pediatrics/august011999/relationshipamonggenotypebi

eLibrary Web Tour Become a Member ... Customer Support Question / Keyword(s): Advanced Search Current Article: Relationship Among Genotype, Biochemical Phenotype, and Cognitive Performance in Females With Phenylalanine Hydroxylase Deficiency: Report From the Maternal Phenylketonuria Collaborative Study. Start P Pediatrics August 01, 1999 ... Relationship Among Genotype, Biochemical Phenotype, and Cognitive Performance in Females With Phenylalanine Hydroxylase Deficiency: Report From the Maternal Phenylketonuria Collaborative Study. Relationship Among Genotype, Biochemical Phenotype, and Cognitive Performance in Females With Phenylalanine Hydroxylase Deficiency: Report From the Maternal Phenylketonuria Collaborative Study. Pediatrics; August 01, 1999; Guttler, Flemming Azen, Colleen Guldberg, Per Romstad, Anne Hanley, William B. Levy, Harvey L. Matalon, Reuben Rouse, Bobbye M. Trefz, Friedrich de la Cruz, Felix Koch, Richard Guttler, Flemming Azen, Colleen Guldberg, Per Romstad, Anne Hanley, William B. Levy, Harvey L. Matalon, Reuben Rouse, Bobbye M. Trefz, Friedrich de la Cruz, Felix Koch, Richard Pediatrics August 01, 1999

85. Clinical Study: 00-CH-0219, Turner Syndrome: Genotype And Phenotype Title Turner Syndrome genotype and phenotype Number 00CH-0219 Summary Thisstudy will examine the clinical and genetic factors related to Turner syndrome http://clinicalstudies.info.nih.gov/cgi/detail.cgi?A_00-CH-0219.html

86. 1683: Correlation Between Genotype And Phenotype In Korean Patients With Spinal Program Nr 1683 Correlation between genotype and phenotype in Korean patients withspinal muscular atrophy. SH Hahn, SY Won, EH Lee, KN Cho, SH Kim, CH Hong. http://www.faseb.org/genetics/ashg99/f1683.htm

Program Nr: 1683 Correlation between genotype and phenotype in Korean patients with spinal muscular atrophy. S.H. Hahn, S.Y. Won, E.H. Lee, K.N. Cho, S.H. Kim, C.H. Hong. Dept Pediatrics, Ajou Univ Col Medicine, Suwon, Kyunggi do, Korea.

87. Blackwell Synergy - Cookie Absent Two Norwegian families illustrating the problem of genotype and phenotypein frontal lobe epilepsy. KO Nakken 1 , E. Brodtkorb 2. http://www.blackwell-synergy.com/links/doi/10.1034/j.1600-0404.2000.00202-14.x/a

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88. Characterizing The Relationship Between HIV‐1 Genotype And Phenotype: Pre Translate this page 1, pp. 145–156. Characterizing the Relationship Between HIV-1 genotype and PhenotypePrediction-Based Classification. AS Foulkes, a and V. De Gruttola b http://apt.allenpress.com/aptonline/?request=get-abstract&issn=0006-341X&volume=

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