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Uses of Genomic Information in the Diagnosis of Disease
Uses of Genomic Information in the Diagnosis of Disease

... which perform most cellular functions and make up the majority of the cellular structure  When defective genes encode proteins unable to perform properly, genetic disorders can occur ...
Option B - biology4friends
Option B - biology4friends

... have sickle cell anaemia. 17 A DNA microarray is a collection of DNA probes attached to a solid surface. A small amount of blood or other source of DNA is collected and applied to a DNA microarray, which is also called a gene chip. The gene chip is ‘spotted’ in precise locations with single strands ...
Johann Gregor Mendel
Johann Gregor Mendel

... forms • One form always makes its effect known over the other • One is “dominant” while the other is “recessive” ...
genes - Sophia
genes - Sophia

... They can be cut across or along their body. ...
DNA re-arrangements - Homepages | The University of Aberdeen
DNA re-arrangements - Homepages | The University of Aberdeen

... will hear more about the organisation of genomes. Mostly, these lectures will have used the paradigm of a genome as an entity whose structure is stable. But there are several important ways in which the organisation of a genome can change (as well as mutation, etc). Some classes of DNA re-arrangemen ...
Chapters 13-16, Molecular Genetics
Chapters 13-16, Molecular Genetics

... and so does the mRNA 6. three different types of RNA polymerase 7. pre-RNA (precursor RNA or transcript RNA) is made prior to mRNA which must be modified before forming mRNA that is exported out of the nucleus 8. snRNA (small nuclear RNA) found in spliceosomes inside the nucleus helps modify pre-RNA ...
Introduction to Next Generation Sequencing
Introduction to Next Generation Sequencing

... – 12M 36bp reads/lane (3.5 Gb full run) – 8M reads mapped to non-repeat regions of genome (2.5 Gb full run) • Map reads to the non-repeat regions of genome using Mapping and Assembly Quality Tool (MAQ) • Generate read enrichment profiles • Generate ChIP enriched sites using Wold Lab Tool – Minimum n ...
Health and Technology
Health and Technology

... chromosome, the less likely it is that they will be inherited together as crossing over is more likely to separate them. REMEMBER THAT: ...
14: The Eukaryotic Genome and Its Expression
14: The Eukaryotic Genome and Its Expression

... • Humans have 6 billion DNA base pairs (bp) in each cell’s nucleus. • The lily, which produces fewer different proteins than a human, has 18 times more DNA. • Most eukaryotic DNA codes for nothing. • Interspersed throughout the genome are various repeated sequences that are not transcribed. • Even w ...
Mendelian Genetics
Mendelian Genetics

...  Type O – no sugar marker - OO  Type A ...
Proximal promoter
Proximal promoter

... the distal sequence upstream of the gene that may contain additional regulatory elements, often with a weaker influence than the proximal promoter – Anything further upstream (but not an enhancer or other regulatory region whose influence is positional/orientation independent) – Specific transcripti ...
Chromosomal Basis of Inheritance
Chromosomal Basis of Inheritance

... Is the Disorder an Autosomal Recessive Disorder or Is It Sex Linked? ...
Human Genetics
Human Genetics

... How are traits determined? Traits can be determined predominantly by one gene. Mendelian traits result from variation in alleles of one gene. Traits can be determined by multiple genes. Polygenic traits result from variation in several genes. ...
BioSc 231 Exam 2 2003
BioSc 231 Exam 2 2003

foxo3 and human longevity: the quest for a functional snp - Duke-NUS
foxo3 and human longevity: the quest for a functional snp - Duke-NUS

... transcription factor), in the insulin/IGF1 signaling pathway and is evolutionarily conserved across multiple species ● FOXO3 is a “master” gene in human aging since its association with longevity is strong and has been replicated in multiple human populations ● Protective allele(s) initially found t ...
Answers to End-of-Chapter Questions – Brooker et al ARIS site
Answers to End-of-Chapter Questions – Brooker et al ARIS site

... flowers and long pollen or red flowers and round pollen) was much higher than expected. Bateson and Punnett suggested that the gene controlling flower color were somehow coupled with the gene that controls pollen shape. This would explain why these traits did not always assort independently. Collabo ...
Introduction to molecular biology…
Introduction to molecular biology…

... Uses mRNA as template to make proteins Occurs in ribosomes One codon corresponds to one amino acid ...
Genes and Chromosomes ppt
Genes and Chromosomes ppt

... HERE’S AN EXAMPLE: Genes associated with vision in humans are located on the X chromosome. – Males only have ONE X chromosome!!!! This can be a problem if the X chromosome given to him by Mom has a ...
BCH364C-391L_Phenologs_Spring2015
BCH364C-391L_Phenologs_Spring2015

... Phenologs = significantly overlapping sets of orthologous genes, such that each gene in a given set gives rise to the same phenotype in that organism (e.g., human) ...
NonMendelian Inheritance Patterns
NonMendelian Inheritance Patterns

... how much and in what order you mix them on a white page dictates the final color. • http://www.thetech.org/genetics/ask.php?id=203 ...
Guidelines and Assignments
Guidelines and Assignments

... 1. (MT1) A. How is the 5-mC distributed within the human genome? B. Do all human genes have CpG island at their promoters? C. How bisulfite treatment may affect the CpG methylation status? D. What methods can be used to detect the methylation status of DNA? Please describe at least four different me ...
Exceptions to Mendel`s Principles
Exceptions to Mendel`s Principles

... Linkage: Some genes that are close on the same chromosomes are less likely to be separated during crossing-over. i.e. they end up getting shuffled together most of the time. Example: red hair and freckles. ...
The phenomenon of incomplete The mRNA-counting analysis of penetrance — whereby organisms
The phenomenon of incomplete The mRNA-counting analysis of penetrance — whereby organisms

... eliminated nodes at the top of the cascade entirely, and that the bimodality of elt‑2 expression was due to a thresholding effect imposed by the penultimate member of the cascade, end‑1 — elt‑2 would be on only if end‑1 expression was above a certain level between the 65- and 120-cell stages. The de ...
Presentation - Broad Institute
Presentation - Broad Institute

Homologs: behave independently in mitosis Tfm: secondary and
Homologs: behave independently in mitosis Tfm: secondary and

... PD=NPD: genes on non-homologous chromosomes Essential genes: about 1/3 of all genes 5-bromouracil: a base analog trait rare: assume unrelated individuals homozygous or hemizygous for normal allele auxotroph: requires nutritional supplementation beyond that required by wild type SNP: due to a base pa ...
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Epigenetics of human development

Development before birth, including gametogenesis, embryogenesis, and fetal development, is the process of body development from the gametes are formed to eventually combine into a zygote to when the fully developed organism exits the uterus. Epigenetic processes are vital to fetal development due to the need to differentiate from a single cell to a variety of cell types that are arranged in such a way to produce cohesive tissues, organs, and systems.Epigenetic modifications such as methylation of CpGs (a dinucleotide composed of a 2'-deoxycytosine and a 2' deoxyguanosine) and histone tail modifications allow activation or repression of certain genes within a cell, in order to create cell memory either in favor of using a gene or not using a gene. These modifications can either originate from the parental DNA, or can be added to the gene by various proteins and can contribute to differentiation. Processes that alter the epigenetic profile of a gene include production of activating or repressing protein complexes, usage of non-coding RNAs to guide proteins capable of modification, and the proliferation of a signal by having protein complexes attract either another protein complex or more DNA in order to modify other locations in the gene.
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