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Glossary (34,35)
Glossary (34,35)

... The existence of two or more variants of a gene, with the less common variant occurring with at least 1% frequency in the population (cf mutation); types include single nucleotide polymorphism (most common type), insertion, deletion, and tandem repeat ...
Simple tandem repeats in mammalian genomes
Simple tandem repeats in mammalian genomes

... information, and is decoded into RNA and proteins. DNA regions where a small sequence of bases is repeated over and over again - CTCCTCCTCCTCCTC for instance, containing five repeats of the sequence CTC - are called microsatellites. For some microsatellites, therefore called "polymorphic", the numbe ...
FoxP2
FoxP2

... Evolution Aspect and Scientific Background ...
What are genomes and how are they studied
What are genomes and how are they studied

... 3) Single nucleotide polymorphisms (SNP) identificationSites that result from point mutations in individual base pairs ...
Genetics Vocabulary Allele: One of the variant forms of a gene at a
Genetics Vocabulary Allele: One of the variant forms of a gene at a

... Allele: One of the variant forms of a gene at a particular locus, or location, on a chromosome. Different alleles produce variation in inherited characteristics such as hair color or blood type. In an individual, one form of the allele (the dominant one) may be expressed more than another form (the ...
Propionic-Acidemia-G.. - Propionic Acidemia Foundation
Propionic-Acidemia-G.. - Propionic Acidemia Foundation

... and other products the body needs. When there is a change in the gene called a mutation, the genes cannot perform their normal function. If these genes do not work and the body cannot break down fats and proteins, there is a buildup of organic acids in the body which can cause the symptoms associate ...
TRANSPONSONS or TRANSPOSABLE ELEMENTS
TRANSPONSONS or TRANSPOSABLE ELEMENTS

... The RNAi machinery cuts up the dsRNA of the TE Fragile X syndrome is characterized by a triplet CCG repeat that is present in the 5’ untranslated region that expands in affected individuals. When this triplet repeat expands beyond a certain length the gene is silenced due to cytosine methylation of ...
From Gene to Protein Part 2
From Gene to Protein Part 2

... FROM GENE TO PROTEIN PART 2 Goal 1- Understand the process of transcription • How is RNA made? •How ...
Using microsatellites as molecular markers
Using microsatellites as molecular markers

... Using microsatellites as molecular markers Use PCR primers that are complementary to single copy sequences flanking microsatellites to amplify microsatellite-containing region. Depending on number of microsatellite repeats, will get different lengths PCR products (many different possible alleles, n ...
When Is a Genome Project Finished?
When Is a Genome Project Finished?

... 4. What is the name of the gene prediction method that uses a statistical analysis of the nucleotide base sequence to determine likely locations for genes, including the position of exons and introns? ________________________________________________________________________ 5. What is the name of the ...
Slide 1
Slide 1

... Figure 1 Genes used to study RNA-mediated genetic interference in C.elegans. Intron–exon structure for genes used to test RNA-mediated inhibition are shown (grey and filled boxes, exons; open boxes, introns; patterned and striped boxes, 5' and 3' untranslated regions. unc-22. ref. 9, unc-54, ref. 1 ...
GeneticsLecture3
GeneticsLecture3

... • 90Mb CACACA and other repeats (forensics) ...
What are 3 major limitations of using the chimpanzee genome for
What are 3 major limitations of using the chimpanzee genome for

... Comment in no more than a half page on the final paragraph of the paper: explain why you agree or disagre. “Finally, the genomic rearrangements, duplications, gene-specific expansions, and measurements of the impact of natural selection presented here have revealed the rich and heterogeneous genomic ...
Notes Guide
Notes Guide

Analysis of Differential Gene Expression in a Myotonic Dystrophy
Analysis of Differential Gene Expression in a Myotonic Dystrophy

... log10 (FPKM + 1) of genes at each dosage that are associated the p53 network. FPKM: fragments per kilobase of exon model per million mapped fragments ...
Chromosomes, Chromatids, Loci, and Alleles
Chromosomes, Chromatids, Loci, and Alleles

... for cell division through either mitosis (somatic cells) or meiosis (sex cells). The DNA will first replicate in the synthesis phase of the cell life cycle to produce two identical copies of the chromosome. Then, the chromosomes will wind up around histones (proteins) and form the X shape we recogni ...
OGP
OGP

... correspondence of order, orientation, and spacing of 23 different genes – Supports common ancestry – Suggests segmental rearrangement of chromosomes during evolution ...
Slide 1
Slide 1

... It’s like cutting in line (insertion) or getting out of line (deletion)- everybody else moves forward or backward ...
PowerPoint
PowerPoint

QUIZ 4on ch12.doc
QUIZ 4on ch12.doc

... 5. The Law of Segregation (Mendel) is best demonstrated using: a. a monohybrid cross. b. a dihybrid cross c. a testcross. d. a back cross. e. two recessive varieties of the gene under study. ...
Genetic Disorders & Diseases
Genetic Disorders & Diseases

... mutated gene is enough to cause the disease ...
AS A PROGNOSTIC MARKER IN CHRONIC MYELOID LEUKEMIA
AS A PROGNOSTIC MARKER IN CHRONIC MYELOID LEUKEMIA

...  But not all treatment failures can be accounted for by these changes. 6.2 CNV (COPY NUMBER VARIATION)  CNV (Copy Number Variation) can be defined as a DNA segment that is 1 kbp or larger and present at variable copy number in comparison with a reference genome.  Deletions, insertions, duplicatio ...
Chapter 16
Chapter 16

... • Short toes are great for push off during running (toes are for balance too) • The pinky toes – are not used for running…so it may be possible that people may start being born without them… ...
1 Sequence evolution of the disease resistance genes Rcr3 and
1 Sequence evolution of the disease resistance genes Rcr3 and

... highly conserved. Additionally, the specific interaction between Rcr3 and Cf-2 should contribute to purifying selection as well. For the Rin4 gene I reported a very low level of nucleotide diversity as well. Tests of neutrality could not be rejected significantly, but all results tended to show a ...
BB30055: Genes and genomes
BB30055: Genes and genomes

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Copy-number variation



Copy-number variations (CNVs)—a form of structural variation—are alterations of the DNA of a genome that results in the cell having an abnormal or, for certain genes, a normal variation in the number of copies of one or more sections of the DNA. CNVs correspond to relatively large regions of the genome that have been deleted (fewer than the normal number) or duplicated (more than the normal number) on certain chromosomes. For example, the chromosome that normally has sections in order as A-B-C-D might instead have sections A-B-C-C-D (a duplication of ""C"") or A-B-D (a deletion of ""C"").This variation accounts for roughly 13% of human genomic DNA and each variation may range from about one kilobase (1,000 nucleotide bases) to several megabases in size. CNVs contrast with single-nucleotide polymorphisms (SNPs), which affect only one single nucleotide base.
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