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Grad Bio
Lecture 3: Genomics and Genetics
26
Biology
Graduate
09/19/2012

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Term
DNA
Definition
A double-stranded nucleic acid that contains the genetic information for cell growth, division, and function.
found in the cytoplasm of prokaryotic cells, and chiefly in the nucleus of eukaryotic cells. A small fraction of total _____ is present in mitochondria and chloroplasts.
long polymer of nucleotides to code for the sequence of amino acid during protein synthesis. _____ is said to carry the genetic ‘blueprint’ since it contains the instructions or information (called genes) needed to construct cellular components like proteins and RNA molecules.
Term
rMRNA
Definition
the type of RNA that codes for the chemical blueprint for a protein (during protein synthesis).
In eukaryotes, the mRNA is produced in the nucleus (during transcription). This mRNA needs to be processed extensively to become mature. This extensive processing includes the addition of a 5' cap at the 5' end and a sequence of adenylate groups at the 3' end, the poly a tail, as well as the removal of any introns and the splicing together of exons. When the pre-mRNA has been completely processed, it is now called a mature mRNA, which will then be transported for translation into the cytoplasm through the nuclear pore. The eukaryotic mRNA has relatively longer lifespan, e.g. mammalian mRNA can live from several minutes to days.
Term
Protein
Definition
A molecule composed of polymers of amino acids joined together by peptide bonds. It can be distinguished from fats and carbohydrates by containing nitrogen. Other components include carbon, hydrogen, oxygen, sulphur, and sometimes phosphorus.
It may serve as a structural material (e.g. keratin), as enzymes, as transporters (e.g. hemoglobin), as antibodies, or as regulators of gene expression.
Term
Nucleus
Definition
The core or the central part around which other parts are grouped or gathered.

(biology) The large, membrane-bounded organelle that contains the genetic material, in the form of multiple linear DNA molecules organized into structures called chromosomes.
Term
Mitochondrion
Definition
Spherical or rod-shaped organelles found within the cytoplasm of eukaryotic cells, and are referred to as the “powerhouse of the cell since they act as the site for the production of high-energy compounds (e.g. ATP), which are vital energy source for several cellular processes.
They produce large amounts of energy through oxidative phosphorylation of organic molecules during cellular respiration. That is, they are capable of using glucose and oxygen to produce energy (and releasing carbon dioxide and water in the process) for use in many metabolic processes. Thus, it is not surprising to find several mitochondria in high energy-requiring cells, such as muscle cells.

They are semi-autonomous, self-reproducing organelles because they contain their own genome. In fact, their DNA has become an important tool in tracking genetic histories since their genetic material is present in only one copy, and does not recombine in reproduction.

According to the endosymbiotic theory, mitochondria might have been the remnants of early bacteria engulfed by ancient eukaryotic cells a billion years ago that might have evolved and become energy-yielding structures within eukaryotic cells at present.
Term
Haploid
Definition
(1) The number of chromosomes in a gamete of an organism, symbolized by n.

(2) A cell or an organism having half of the number of chromosomes in somatic cells
Term
Zygote
Definition
A cell in diploid state following fertilization or union of haploid male sex cell (e.g. sperm) and haploid female sex cell (e.g. ovum).


Supplement

To be precise, ____ is the term used to refer to the cell as a result of the fusion of two haploid nuclei during fertilization until the first cleavage. When the ____ starts to divide and multiply, it is called an embryo.
Term
Tetrads
Definition
A group of four closely associated chromatids of a homologous pair formed by synapsis.
pertains to the structure formed by the synapsis of homologous chromosomes during the prophase I of meiosis.
Term
Chiasma
Definition
The point of contact between paired chromatids during meiosis, resulting in a cross-shaped configuration and representing the cytological manifestation of crossing over like the letter X.
Term
Termination Codons
Definition
The three codons, UAA known as ochre, UAG as amber and UGA as opal, that do not code for an amino acid but act as signals for the termination of protein synthesis.

They are not represented by any tRNA and termination is catalysed by protein release factors. There are two release factors in e. Coli, RF1 recognises UAA and UAG, RF2 recognises UAA and UGA. Eukaryotes have a single gTP requiring factor, eRF
Term
redundant
Definition
The Genetic Code is ____
Term
Degeneracy
Definition
The coding of a single amino acid by more than one base triplet (codon).

Of the 64 possible codons, three are used for stop signals, leaving 61 for only 20 amino acids. Since all codons can be assigned to amino acids, it is clear that many amino acids must be coded by several different codons, in some cases as many as six.
Term
Single Nucleotide Mutations
Definition
Question Mark
Term
Penetrance
Definition
he frequency or rate of occurrence, typically in percentage, of a particular trait or condition (e.g. disease) expressed among individuals carrying the same deleterious (or disease-causing) gene.
likelihood that a particular gene will be expressed and result in a disease.
Term
Segregation
Definition
the formation of unique gametes from the genotype of the parents source:
Term
allele
Definition
One member of a pair (or any of the series) of genes occupying a specific spot on a chromosome (called locus) that controls the same trait.
referring to an inherited trait that is usually accompanied by a phenotype as in ‘tall genes’ or ‘bad genes’ – but the more proper (scientific) term for this is allele.
Term
Genotype
Definition
The entire set of genes in an organism.

(2) A set of alleles that determines the expression of a particular characteristic or trait (phenotype).

the entire set of genes in a cell, an organism, or an individual. A gene for a particular character or trait may exist in two allelic forms; one is dominant (e.g. A) and the other is recessive (e.g. a). Based on this, there could be three possible genotypes for a particular character: AA (homozygous dominant), Aa (heterozygous), and aa (homozygous recessive).
Term
Phenotype
Definition
The physical appearance or biochemical characteristic of an organism as a result of the interaction of its genotype and the environment.

(2) The expression of a particular trait, for example, skin color, height, behavior, etc., according to the individual’s genetic makeup and environment.
result from the expression of the genes of an organisms as well as the influence of environmental factors and random variation.
Term
Heterozygous
Definition
Of, or pertaining to an individual (or a condition in a cell or an organism) containing two different alleles for a particular trait.

(2) Having dissimilar alleles that code for the same gene or trait.
Term
Hemizygous
Definition
Characterized by having one or more genes without allelic counterparts.

(2) Pertaining to a diploid cell with only one copy of a gene instead of the usual two copies.
Term
Homozygous
Definition
Of, or pertaining to an individual (or a condition in a cell or an organism) containing two copies of the same allele for a particular trait located at similar positions (loci) on paired chromosomes (see homologous chromosomes).

(2) Having two identical alleles that code for the same trait.
Term
Recurrence Risk
Definition
the chance that a genetic (inherited) disease present in the family will recur in that family and affect another person (or persons). It is the chance of lightning striking twice (or thrice, etc.).
Term
Variable Expressivity
Definition
The extent to which an expressed gene manifests its effect in an organism.
the influence of an expressed gene in individuals. A variable expressivity pertains to the consistency of the gene’s influence on the individual. It occurs when a phenotype is expressed but to a different degree among individuals with the same genotype. For example , some individuals suffering from Marfan disease have long fingers and toes. Others would have a full blown disease with the dislocation of the lens and dissecting aneurysm of the aorta.
Term
Homologous Chromosomes
Definition
one of a pair of chromosomes

2. a chromosome with the same gene sequence as another
A human cell contains 23 pairs of homologous chromosomes: 22 of them are homologous non-sex chromosomes (or autosomes) and 1 homologous pair of sex chromosomes. In females, the homologous sex chromosomes are 2 X’s; in males the X and Y chromosomes
Term
FISH (Flourescence in Situ Hybridization)
Definition
Question Mark
Term
Threshold of Liability
Definition
Question Mark
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