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informed consent for array cgh testing - Kinderkliniken
informed consent for array cgh testing - Kinderkliniken

Linked genes
Linked genes

... • Three genes will be used for illustration: • Body color – b • Wing size – vg • Cinnabar – cn (affects eye color… mutants have brighter red) • Recombination between cn and b is 9%, that between cn an vg is 9.5%, and that between b and vg is 17%. • Crossovers between cn and b and cn and vg are about ...
Cancer genetics, cytogenetics—defining the enemy within
Cancer genetics, cytogenetics—defining the enemy within

(a) (b)
(a) (b)

... Recombination of Unlinked Genes: Independent Assortment of Chromosomes • Mendel observed that combinations of traits in some offspring differ from either parent • Offspring with a phenotype matching one of the parental phenotypes are called parental types • Offspring with nonparental phenotypes (ne ...
Purpose of Mitosis and Cell Growth
Purpose of Mitosis and Cell Growth

... diagram of what a cell looks like during each phase of mitosis. i. Prophase – the chromatin condenses, the chromosome is two identical copies called sister chromatids attached at the center with a centromere ii. Metaphase – the chromosomes move toward the center of the cell and line up at the middle ...
Mutations - Houston ISD
Mutations - Houston ISD

Study guide 1
Study guide 1

... Place Darwin in a historical context. What was the current thinking about the biodiversity of organisms (how they got to be the way they were) in Darwin’s time? In what two key ways did Darwin’s theory contradict that thinking? What key pieces of the work of Hutton, Lamarck, Malthus, Cuvier, and Lye ...
Sex determination
Sex determination

... * Relative frequency of genes being cotransformed indicates distance between the two genes ...
BEDE BUGS
BEDE BUGS

... This set of cards represents your gamete (egg or sperm), which has half the number of chromosomes of your parent Bede Bug (haploid number). 5. Now mate with your partner! Combine your 7 cards with your partner’s. This simulates random fertilisation. Remember you could have mated with any other Bede ...
Prokaryotic Cell
Prokaryotic Cell

... prokaryotic chromosome is 1000 times longer organized in loops one chromosome = one DNA >> genes pass in the unchanged form into the daughter cells haploid prokaryotic cells circular = cyclic >> it has not got free endings ...
Genetic Disorders
Genetic Disorders

... • ~50% of cases are “sporadic” • Mutation rate 1/10,000 gametes; the highest observed in humans • Neurofibromin mapped to 17q11.2 downregulates the function of p21 ras oncoprotein ...
Midterm 2 - 1996
Midterm 2 - 1996

... 1) a genomic segment bordered by a pair of long terminal repeats and 3 autopolyploid containing inactive protein-coding genes 2) a geological principle that influenced Darwin's theory of gradualism 24 Chelex 3) all chromosome sets from one species 4) always transmitted from father to son 6 D1S80 5) ...
Document
Document

... Figure 6.2 for reference. 1. Draw a cell with four chromosomes in the first box. Make one pair of chromosomes large and the other pair small. Color in one large chromosome and one small chromosome. 2. In the next box, draw the cell in prophase I. Have each pair of homologous chromosomes line up toge ...
Solid Tumour Section Myxoinflammatory  fibroblastic  sarcoma  (MIFS)  with t(1;10)(p22;q24)
Solid Tumour Section Myxoinflammatory fibroblastic sarcoma (MIFS) with t(1;10)(p22;q24)

... labeled in yellow. The profile shows amplification of material from chromosome 3 and a few additional aberrations. Enlarged view of chromosome 3 shows two separate amplicons, the more proximal of these contains the VGLL3 gene (bottom). ...
Biology 1 Exam Review
Biology 1 Exam Review

... 7. Suppose that for an organism, 2N = 8. How many chromosomes do the organism's gametes contain? 8. In rabbits, B is an allele for black coat and b is an allele for brown coat. Write the genotypes for a rabbit that is homozygous for black coat and another rabbit that is heterozygous for black coat. ...
Written Summary
Written Summary

... parent and the other ______ from the other parent. This passing of traits from parent to offspring is called ______________. Coiled structures of DNA called ______________ contain all of their genetic information. These structures are found inside a cell’s ____________. In order for _________ to be ...
Mutations
Mutations

... is an increased production of abnormal chromatids (this occurs when crossing-over occurs within the span of the inversion). This leads to lowered fertility due to production of unbalanced gametes. • The most common inversion seen in humans is on chromosome 9. This inversion is generally considered t ...
Biology Fall Final Review 2015
Biology Fall Final Review 2015

... c. The amino acid sequence would remain unchanged. d.The identities of more than one amino acid would change. 97. Which type of mutation usually has the most significant impact on the protein being formed?___________________ 98. In what type of cells should mutation occur to be passed on to offsprin ...
Genetics and Heredity 1
Genetics and Heredity 1

... Cells are made up of chromosomes. Chromosomes are made up of tiny threads of information called genes. Genes contain the information that determine the characteristics you receive from your parents or your inherited traits . In other words, it is a section of a chromosome that carries coded informat ...
Non Mendelian Genetics
Non Mendelian Genetics

... superscript for the sex-linked trait (female genotypes: XDXD, XDXd, XdX d, male genotypes: XDY, or XdY). Males tend to have sex-linked traits at a much higher rate than females because males only have one X chromosome and one Y chromosome. So, the presence of a single recessive allele will result in ...
cell membrane
cell membrane

... gives it its rigid shape. ONLY in Plants. This is ...
Section 14-1 - Cloudfront.net
Section 14-1 - Cloudfront.net

... • In sickle cell disease, the red blood cells are sickle– shaped, causing the blood hemoglobin to no longer disrupts the normal carry oxygen as well and _____________________ functioning of the bodies cells, tissues and organs ...
Figures from Chapter 3
Figures from Chapter 3

... – Sperm more likely than ova – Harmful or beneficial (e.g., sickle-cell protects from malaria) ...
Summary - marric
Summary - marric

... the first stage, the DNA in special cells in the reproductive organs is copied. The cells then divide. Two cells are formed. These cells are different from each other and different from the parent cell. In the second stage of meiosis, the cells divide again. This time, their DNA is not copied first. ...
Slide 1
Slide 1

... • Prevent patient from self-injury • Snoring indicates normal breathing • If reguritation occurs, place in recovery position • Emergency medical treatment needed for >5 mins • Do not place objects in mouth. • Let seizure take its own course • Surgery very rare, for those meds cannot control – or tum ...
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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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