definition-of-terms-mbd.docx

**Molecular Biology & Diagnostics** **Agarose --** a gel-forming polysaccharide extracted from seaweed Agarose - Wikipedia **Allele -- alternative forms of gene that is present at a given locus** **Heterozygous -- non-identical allele** **Homozygous -- identical allele** ![Alleles: Definition,...

**Molecular Biology & Diagnostics** **Agarose --** a gel-forming polysaccharide extracted from seaweed Agarose - Wikipedia **Allele -- alternative forms of gene that is present at a given locus** **Heterozygous -- non-identical allele** **Homozygous -- identical allele**  **Cell nucleus -- carries genetic information** Molecular Expressions Cell Biology: The Cell Nucleus **Codon -- 3 bases in mRNA that code for amino acid production**  **Diploid -- cells that carry two genome copies** **Haploid -- cells that contain single copy of the genome such as germ cells or gametes** Diploid Definition and Examples - Biology Online Dictionary **Epigenetics -- study of changes in the regulations of gene activity and expression that are not dependent on gene DNA sequence**  **Exon -- coding DNA** **Intron -- non-coding DNA between 2 exons** Exon Definition and Examples - Biology Online Dictionary **Gene expression -- protein synthesis (gene product) -- is tightly controlled and regulated** **Protein expression -- different proteins are expressed in different cells according to the function of the cell**  **Genetic code -- combination of nucleotides that build the different codons** Genetic code - YouTube **Genome -- an organism's total DNA content** **Genotype -- the observed alleles for an individual at a genetic locus** **Phenotype -- observable characteristics** **Dominant gene - expresses itself more strongly all by itself than any other version of the gene which the person is carrying** **Recessive gene - a gene that can be masked by a dominant gene**  **Haplotype -- series of alleles on a single chromosome** inheritance-of-hla-haplotypes **Ligation -- process of joining two DNA molecule ends. It involves creating a phosphodiester bond between 3' hydroxyl of one nucleotide and the 5' phosphate of another**  **Linkage disequilibrium -- allelic association when closely linked alleles are inherited together during many generations**  **Locus- location of a gene in a genome** Genes and Loci- A Complete Guide **Molecular diagnostics -- the use of DNA, RNA, or mRNA to identify and/or characterize disease caused by infectious agents or gene abnormality** **Mutations -- changes in the DNA sequence**  **Penetrance -- the probability of expressing a phenotype given a particular genotype** Penetrance​ - Definition & Types - GeeksforGeeks **Polymorphism -- a variation in the base sequence of DNA**  **Proteins -- made up of amino acids** **Proteomics -- organism's complete complement of proteins** Types of Proteomics Workflows (Bottom-up, Middle-down and Top-down) **RFPL (Restriction Fragment Length Polymorphism -- variation in the size of DNA fragments generated by restriction enzymes**  **Sequence -- the order of nucleotide bases along a DNA strand** DNA sequencing \| Genetics, Technology & Applications \| Britannica **Short tandem repeats (STR) -- short sequences of DNA, normally 2-5 base pairs, that are repeated numerous times** DNA profiling is a technique by which individuals can be identified and compared via their respective DNA profiles - Within the non-coding regions of an individual's genome there exists satellite DNA -- long stretches of DNA made up of repeating elements called *short tandem repeats* (STRs) - As individuals will likely have different numbers of repeats at a given satellite DNA locus, they will generate unique DNA profiles  DNA profiling is commonly used in criminal investigations (forensics) and to settle paternity disputes The procedure involved is common for both: - A DNA sample is collected (e.g. from blood, semen, saliva, etc.) and then amplified using PCR - Satellite DNA (with STR sequences) are cut with specific restriction enzymes to generate fragments - Fragment length will differ between individuals due to the variable length of their short tandem repeats - The fragments are separated using gel electrophoresis and the resulting profiles are compared **Forensic Investigations:** Suspects should be a **complete match** with the DNA sample taken from the crime scene if a conviction is to occur **Paternity Testing:** Children inherit half their chromosomes from each parent and thus should possess a **combination** of parental fragments - In other words, all fragments produced in the child should also be produced by either the mother or  forensicbefore  My Image 2 **Telomere -- region of repetitive DNA at the end of the chromosome**  **Transcription -- process where genetic information in DNA is copied into mRNA utilizing the RNA polymerase enzyme** **Transcriptome -- set of all RNA molecules transcribed in a cell**