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slides - ARUP.utah.edu - The University of Utah
slides - ARUP.utah.edu - The University of Utah

... Can customize array to concentrate clones in areas of interest (targeted regions) and/or spread clones throughout genome (backbone) „ Resolution will depend on density of clones in region of interest, but can be as good as 5 kb „ Detection of smaller abnormalities „ Detection of cryptic abnormalitie ...
Epigenetic
Epigenetic

... 1. In XY-males, the single X chromosome is active in all cells, while in each cell of the female (XX) one of the two X chromosomes becomes inactivated. 2. Paternal and maternal X chromosomes have an equal chance of being inactivated. 3. Inactivation occurs early in the life of the female embryo. 4. ...
Leukaemia Section Plasma cell leukemia (PCL) Atlas of Genetics and Cytogenetics
Leukaemia Section Plasma cell leukemia (PCL) Atlas of Genetics and Cytogenetics

... changes is very similar to the pattern observed in multiple myeloma; numerical changes and/or structural aberrations have been described; in large series, hyperdiploidy is observed in 61 to 68% of cases, where as pseudodiploidy and hypodiploidy occur in 9 to 20 and 10 to 30% of patients, respectivel ...
No Slide Title - Ohio University
No Slide Title - Ohio University

... • autoploids formed by doubling of “wild type” genome, allopolyploids from doubling of hybrid • allopolyploids far more common than autopolyploids • polyploids often more “fit” than parent(s), often in niches different from parent(s) • opportunities for evolutionary change through gene ...
Smith, GF and Warren, ST: The biology of Down syndrome. Annals of the New York Academy of Science 450: 1-9 (1985).
Smith, GF and Warren, ST: The biology of Down syndrome. Annals of the New York Academy of Science 450: 1-9 (1985).

... Although its relationship to the phenotype is not understood, the molecular knowledge generated regarding its structure and function should illuminate this point. The number of these genes to be found responsible for the phenotype will likely be quite small when one considers that monosomy for a sin ...
Replication is when DNA
Replication is when DNA

... A string of three billion A's, C's, G's, and T's make up the __________________________________ that is found in every cell in the human body, except for _____________________________________. ...
Allele - Bryn Mawr School Faculty Web Pages
Allele - Bryn Mawr School Faculty Web Pages

... Any eye color other than pure blue is determined by a dominant allele that codes for the production of the pigment called melanin. Hazel, green, grey and brown eyes are dominant over blue. ...
Open File
Open File

... bases. The hydrogen bonds are represented by small circles. Color the hydrogen bonds grey or black. The DNA can actually "unzip" at the hydrogen bonds when it needs to replicate - or make a copy of itself. DNA needs to copy itself when a cell divides, so that the new cells each contain a copy of the ...
Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA
Dr. Fern Tsien, Dept. of Genetics, LSUHSC, NO, LA

... In about half of all translocation Down cases, one of the parents is carrying the rearrangement of chromosome 21, called a balanced translocation. The parent may be unaware that he or she is a carrier of this balanced translocation, since it does not affect his or her health. However, this parent ca ...
History of DNA DNA History 14-15
History of DNA DNA History 14-15

... Transformation = change in phenotype something in heat-killed bacteria could still transmit AP Biology disease-causing properties ...
DNA Technology Notes
DNA Technology Notes

Mendelian Genetics
Mendelian Genetics

... Sex-linked genes exhibit a unique pattern of inheritance • All genes on the sex chromosomes are said to be sex-linked – In many organisms, the X chromosome carries many genes unrelated to sex – Fruit fly eye color is a sex-linked characteristic ...
GENETICS WEBQUEST
GENETICS WEBQUEST

BL414 Genetics Spring 2006  page Test 2
BL414 Genetics Spring 2006 page Test 2

... 1) (2.5pts) T or F: ___T_______ Bacterial genomes do not have many repetitive sequences, most of their genome is unique. 2) (2.5pts) T or F: ____F______ Genetic linkage in corn can be analyzed using asci tetrad analysis. 3) (2.5pts) T or F: _____F_____ The Holliday model is the currently accepted mo ...
H FINAL EXAM (OBJECTIVE): Practice Exam
H FINAL EXAM (OBJECTIVE): Practice Exam

... When Darwin published his theory of evolution, he included all of the following ideas except: a. the idea that species change slowly over time. b. the idea that some organisms become less suited to their environment than others. c. Mendel’s ideas about genetics. d. the idea that some organisms repro ...
Every Cell Has a Sex - Women`s Health Research Institute
Every Cell Has a Sex - Women`s Health Research Institute

... gate with the Y chromosome (“hairy ears,” for example [Dronamraju 1964]) tended to reinforce the notion that the Y chromosome encoded the male gonadal phenotype (Koopman et al., 1991), one or more genes involved in male fertility (Lahn and Page, 1997), the HY male transplantation antigen (Wachtel et ...
Rates and patterns of chromosome evolution in enteric bacteria
Rates and patterns of chromosome evolution in enteric bacteria

... led to investigations focusing on four general aspects of chromosome evolution: first, the degree of chromosome heterogeneity within species; second, the mechanisms generating diversity in chromosome organization; third, the role of variable regions; and, finally, the rate of chromosome evolution. D ...
Biology 30 Review Assignment Part 2
Biology 30 Review Assignment Part 2

Nature Genetics - David Page Lab
Nature Genetics - David Page Lab

... the sex chromosomes (denoted PAR for pseudoautosomal region). Crossing-over is confined to this segment and is required for the segregation of the sex chromosomes in male meiosis. d, Inactivation of one X chromosome in females evolved. A single locus, XIST, was recruited to initiate and signal genet ...
Hereditary diseases of a man
Hereditary diseases of a man

... to have differentiated between heritable and environmental variations. However, the term mutation is now used in a rather strict sense to cover only those changes, which alter the chemical structure of the gene at the molecular level. These are commonly called gene mutations or point mutations. In p ...
Chapter 6 Genetics
Chapter 6 Genetics

... an immune response, your body’s defenses against disease, which will be discussed further in the Diseases and the Body's Defenses chapter. In this case, two alleles are dominant and completely expressed (IA and IB), while one allele is recessive (i). The IA allele encodes for red blood cells with th ...
Principles of Inheritance and Variation.pmd
Principles of Inheritance and Variation.pmd

... of the two parents and was in between the two. The inheritance of flower colour in the dog flower (snapdragon or Antirrhinum sp.) is a good example to understand incomplete dominance. In a cross between true-breeding red-flowered (RR) and truebreeding white-flowered plants (rr), the F1 (Rr) was pink ...
60Ch14DNAhistory2008..
60Ch14DNAhistory2008..

... Transformation = change in phenotype something in heat-killed bacteria could still transmit AP Biology disease-causing properties ...
Name - hooferv
Name - hooferv

... __C___ 9. Variation in human skin color is an example of a. incomplete dominance. c. polygenic traits. b. codominance. d. multiple alleles. ___B__ 10. Which of the following shows that the environment can affect genetic traits? a. Oak trees get taller as they grow. b. Hydrangea flower color varies w ...
Prader-Willi syndrome - type 1 deletion, a
Prader-Willi syndrome - type 1 deletion, a

... Prader-Willi syndrome (PWS) is a neurobehavioral genetic disorder (OMIM #176270) characterized by hypotonia, poor feeding in infancy, hyperphagia with evolving obesity in later live, hypogonadism, decreased adult height as well as cognitive and behavioural disabilities [1]. PWS can be due to distinc ...
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Chromosome



A chromosome (chromo- + -some) is a packaged and organized structure containing most of the DNA of a living organism. It is not usually found on its own, but rather is complexed with many structural proteins called histones as well as associated transcription (copying of genetic sequences) factors and several other macromolecules. Two ""sister"" chromatids (half a chromosome) join together at a protein junction called a centromere. Chromosomes are normally visible under a light microscope only when the cell is undergoing mitosis. Even then, the full chromosome containing both joined sister chromatids becomes visible only during a sequence of mitosis known as metaphase (when chromosomes align together, attached to the mitotic spindle and prepare to divide). This DNA and its associated proteins and macromolecules is collectively known as chromatin, which is further packaged along with its associated molecules into a discrete structure called a nucleosome. Chromatin is present in most cells, with a few exceptions - erythrocytes for example. Occurring only in the nucleus of eukaryotic cells, chromatin composes the vast majority of all DNA, except for a small amount inherited maternally which is found in mitochondria. In prokaryotic cells, chromatin occurs free-floating in cytoplasm, as these cells lack organelles and a defined nucleus. The main information-carrying macromolecule is a single piece of coiled double-stranded DNA, containing many genes, regulatory elements and other noncoding DNA. The DNA-bound macromolecules are proteins, which serve to package the DNA and control its functions. Chromosomes vary widely between different organisms. Some species such as certain bacteria also contain plasmids or other extrachromosomal DNA. These are circular structures in the cytoplasm which contain cellular DNA and play a role in horizontal gene transfer.Compaction of the duplicated chromosomes during cell division (mitosis or meiosis) results either in a four-arm structure (pictured to the right) if the centromere is located in the middle of the chromosome or a two-arm structure if the centromere is located near one of the ends. Chromosomal recombination during meiosis and subsequent sexual reproduction plays a vital role in genetic diversity. If these structures are manipulated incorrectly, through processes known as chromosomal instability and translocation, the cell may undergo mitotic catastrophe and die, or it may unexpectedly evade apoptosis leading to the progression of cancer.In prokaryotes (see nucleoids) and viruses, the DNA is often densely packed and organized. In the case of archaea by homologs to eukaryotic histones, in the case of bacteria by histone-like proteins. Small circular genomes called plasmids are often found in bacteria and also in mitochondria and chloroplasts, reflecting their bacterial origins.
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