Molecular Diagnostics: Module 1 Flashcards

"Father of Genetics"; described genetic traits

isolated nuclein in 1868

showed units of heredity (genes) were located on chromosomes in 1911

identified the chemical components of DNA in 1929

found that the number of purines is equal to the number of pyrimidines in 1950 (A+G)/(T+C)=1

generated original x-ray diffraction data leading to discover of structure of DNA

pieced together structure of DNA and built model in 1953

shown to cleave DNA into fragments

allowed for detection of DNA fragments and sequences in 1975

described in 1985 which led to microarray technology in 1996

began in 1990 to understand radiation effects leading to identifying 25,000 genes

has no nucleus, single copy of DNA (haploid), conjugation and DNA exchange; includes bacteria, viruses, spirochetes

nucleated with cytoplasmic organelles, double cope of DNA (diploid), exons and introns

non-sex chromosome

translated portion of eukaryotic gene (coding portion of gene)

non-translated intervening sequence of eukaryotic gene (junk DNA)

complete set of genetic instructions for an organism; complete blueprint for reproduction

nuclear "colored body"; nucleic acid polymers that encode genes

unit of inheritance; one encodes one protein; sequence of DNA bases

proteins around which chromosomes fold

DNA that has two copies or pairs of homologous chromosomes; humans: 46 chromosomes, 6 billion base pairs per cell

found in gametes which have 1 copy of each chromosomes; humans: 23 chromosomes, 3 billion base pairs per cell

a gene or region of DNA

alternate form of a gene at a locus on a chromosome; one copy from each parent: homozygous, heterozygous

a trait or group of traits resulting from transcription and translation of these genes; observed expression of genotype

the DNA nucleotide sequence responsible for a phenotype; the alleles at a given locus for an individual

a DNA sequence change that is present in a relatively small proportion (<1%) of a population

a change in DNA sequence that is present in at least 1-2% of a population

expresses transfer of information; includes replication, transcription, and translation

proposed the central dogma in 1953

reproduction of DNA into double-stranded nucleotides that provides a genetic code in the form of the bases: A, T, G, and C; where DNA produces daughter strands with DNA as the starting material and reproduces its own genetic code

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double-stranded nucleotide polymers providing ATGC genetic codes

single-stranded nucleotide polymers providing AUGC template

testing which is based upon the detection of nucleic acids (DNA and RNA) as opposed to protein (enzymes and antibodies)

comprised of a ribose sugar and a nitrogen base

polymers which DNA is made from; phosphorylated nucleosides

makes up the base

makes up the pentose sugar

single ring nitrogenous bases with a hexagonal structure with nitrogen present at positions 1 and 3; includes thymine, cytosine, and uracil (cytidine, thymidine, uridine)

hexagonal structure with a pentagon at positions 4 and 5 of hexagon and carbons at positions 2 and 6; adenine and guanine (adenosine and guanosine)

replaces thymine in RNA molecule

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5-carbon sugars which are numbered clockwise starting with one on upper right

how base pairs bind together

pair contains two hydrogen bonds

pair contains three hydrogen bonds

binds phosphate to molecule

the amount of energy it would take to break the bonds

DNA is heated and separated, then recombined in the double-stranded form

describes the orientation of the DNA strand with reference to the 5'-phosphate and 3'phosphate groups

most common form of DNA; right-hand helix

compact form of right-hand DNA helix; produced in vitro

left-hand helix 12 base pairs per turn; results from stressful conditions

consists of deoxyribose, phosphate, nitrogenous bases, pyrimidines (thymine and cytosine) and purines (adenine and guanine)

consists of ribose, phosphate, nitrogenous bases, pyrimidines (uracil and cytosine) and purines (adenine and guanine)

catalyze formation of the phosphodiester bond

unwind and untangle to form replication forks

synthesizes a short ribonucleic acid (RNA) to prime DNA synthesis

add methyl groups to nitrogen bases

take amino groups from nitrogen bases

cut DNA

catalyze formation of a single phosphodiester bond