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209 MOLECULAR DIAGNOSTICS & GENETICS by Mona Bakeer, Elizabeth Williams, Marcia Firmani Key Terminology Agarose...

209 MOLECULAR DIAGNOSTICS & GENETICS by Mona Bakeer, Elizabeth Williams, Marcia Firmani Key Terminology Agarose - a gel-forming polysaccharide Moleculcr Diagnostics - the use of DNA, extracted from seaweed RNA or mRNA to identify and /or characterize disease caused by Allele - alternative forms of a gene that is infectious agents or gene abnormalities present at a given locus Mutations - changes in the DNA sequence Cell nucleus - carries genetic information Penetrance - the probability of expressing a Codon - 3 bases in mRNA that code for phenotype, given a particular genotype amino acid production Phenotype - observable characteristics Diploid - cells that carry two genome copies Polymorphism - a variation in the base Epigenetics - stud[ of changes in the sequence of DNA regulations o gene activity and expression that are not dependent on Proteins - made up of amino acids gene DNA sequence Protein expression - Differcnt_proteins are Exon - coding DNA (translated into a expressed in different cells according to protein) the function of the cell Gene Expression - protein synthesis (gene Proteomics - organism's complete product)- is tightly controlled and complement of proteins regulated RFLP (Restriction Frag-nent Length Genetic Code- combination of nucleotides Polymorphism)- variation in the size of that build the different codons DNA fragments generated by restriction enzymes Genome - an organism's total DNA content Sequence - the order of nucleotide hases Genotype - the observed alleles for an along a DNA strand individual at a genetic locus STR (short tandem repeats) - Short Haploid- -cells that contain a single copy of sequences of DNA, normally 2-5 base the genome such as germ cells or pairs, that are repeated numerous gametes times Haplotype - series of alleles on a single Telomere - Re~on of repetitive DNA at the chromosome end of a chromosome Heterozygous - two different alleles at a Transcription - process where genetic locus information in DNA is copied into Homozygous - two identical alleles at a messenger RNA (mRNA) utilizing the locus RNA polymerase enzyme lntron- non-coding DNA between 2 exons Transcriptome - set of all RNA molecules transcribed in a cell Ligation - process ofjoining two DNA molecule ends. It involves creating a Transgene - a foreign gene that is phosphodiester bond between 3' introduced randomly somewhere in the hydroxy of one nucleotide and the genome 5 phosphate of another. Translation - making a protein using the Linkage disequilibrium - allelic association information provided by mRNA when closely linked alleles are inherited VNTR ( variable number of tandem repeats) - together during many generations Repeats of identical nucleotide Locus - location of a gene in the genome sequences lined up one after another that vary in number from one individual to another i.e., gaca gaca gaca gaca gaca gaca