Genetics Exam 3 Vocab

deletion

removal of part of a chromosome

Cri-du-chat syndrome

a genetic disease resulting from deletion of part of chromosome 5; leads to cat-like cry, intellectual disability etc

Wolf-Hirschhorn syndrome

a genetic disease resulting from deletion of part of chromosome 4; leads to intellectual disability, delayed growth, certain facial characteristics

duplication

repeat part of chromosome

paracentric inversion

centromere not included in the inversion

pericentric inversion

centromere included in inversion

cross-over suppressor

inversion bearing chromosomes are these because recombinant chromosomes are generally not recovered

balanced chromosome complement

a karyotype where, despite structural rearrangements such as translocations or inversions, the complete set of genetic material is present

reciprocal translocation

reciprocal exchange of dna between non-homologues

Robertsonian translocation

type of non reciprocal translocation in which 2 acrocentric/telocentric chromosomes fuse

long arms fuse and create a new chromosome

endopolyploidy

in many animals, some cells are polyploid

a process where cells replicate their DNA multiple times without dividing, leading to a single cell containing many sets of chromosomes

euploidy

genome composed of whole multiples of haploid number

monoploidy

1x: one copy of each chromosome

autopolyploid

composed of multiple sets of chromosomes from the same species

allopolyploid

composed of multiple sets of chromosomes from different species

endoreduplication

replication without nuclear division

aneuploidy

extra/missing copies (deviating from usual)

polysomy

having an extra individual chromosome

trisomy

diploid with an extra copy of one chromosome

monosomy

missing one copy of one chromosome

maternal effect

nuclear genotype of mom affects phenotype of progeny via substances present in the egg

extranuclear inheritance

inheritance of traits determined by factors outside nucleus (usually mitochondria)

mitochondria

major site of ATP synthesis, programmed cell death, heat, Ca2+. include own genome

chloroplasts

green pigmented organelle in plants, photosynthesis. include their own genome

endosymbiont

an organism that lives inside the body or cells of another organism (the host)

heteroplasmy

the coexistence of both mutant and wild-type mitochondrial DNA (mtDNA) within a single cell or individual

homoplasmy

mitochondria dna all of one type (mutant or wild type)

Wolbachia

cytoplasmic endosymbiont in insects that kill male progeny/transform males into females

nucleoid

genetic material in region lacking clear boundaries (prokaryotes)

conjugation

DNA transferred from donor to recipient

episome

genetic element that can exist freely in cell or integrated into chromosome

merodiploid

partially diploid bacterium, which has its own chromosome complement and a chromosome fragment introduced by conjugation, transformation or transduction

transformation

bacteria take up free DNA from the environment

lytic

a primary method of viral reproduction where a virus hijacks a host cell's machinery to replicate its genetic material and proteins, infection ultimately ruptures cell and releases new phage particles

lysogenic

virus integrates into bacterial chromosome, transmitted to daughter cell

virulent phage

phage only capable of lytic growth

temperate phage

phage that can undergo both lytic and lysogenic cycles

transduction

transfer of bacterial DNA by phage

specialized transduction

form of horizontal gene transfer where a temperate bacteriophage transfers specific, limited bacterial genes to a new host, rather than random one

generalized transduction

ability to transduce any bacterial genes (as long as they can fit)

prophage

bacteriophage genome integrated into a bacterial host chromosome, replicating silently alongside it during the lysogenic cycle

lysogen

A bacterium that contains a prophage

restriction endonuclease

enzymes that cut DNA at specific sequences. many recognition sites are palindromic

genomic DNA vs. cDNA

gDNA represents all genes, cDNA reflects active gene expression, lacks introns, and is used for cloning or protein expression

plasmid

small, circular, double-stranded DNA molecules distinct from a cell's chromosomal DNA, found primarily in bacteria, archaea, and some eukaryotes

functional complementation

a genetic technique where introducing a wild-type (normal) gene into a mutant organism restores the normal phenotype, confirming the function of the introduced gene

positional cloning

laboratory technique used to identify the specific gene responsible for a trait or disease based on its location on a chromosome

Southern blot

molecular biology technique used to detect specific DNA sequences within a complex mixture. It involves digesting DNA with restriction enzymes, separating fragments by size via gel electrophoresis, transferring them to a membrane, and identifying the target sequence using a labeled complementary probe

Northern hybridization

uses agarose gel electrophoresis to separate RNAs by size, and then hybridization to detect RNAs of interest

SDS-PAGE

sodium dodecyl sulfate - separates protein by size. SDS used to denature protein and eliminate effects of charge

Western blot

protein in SDS page transferred to membrane and use specific antibody to detect an individual protein on the membrane

PCR

laboratory technique used to amplify small segments of DNA into millions of copies for detailed analysis

Next generation DNA sequencing

parallel technology that sequences millions of DNA or RNA fragments simultaneously

site-directed mutagenesis

molecular biology technique used to create precise, targeted changes (substitutions, insertions, or deletions) in a DNA sequence, typically within a plasmid

reporter transgene

fuse regulatory sequences or whole genes to a reporter

transgenic organism

a living cell, plant, or animal whose genome has been artificially altered by the introduction of foreign DNA

genetically modified plant

transgenic plants engineered to improve yield, crop, reduce herbicide/pesticide use etc

gene therapy

recombinant DNA technology used to correct genetic disorders

adult stem cell

unspecialized cells that renew and differentiate

embryonic stem cell

pluripotent stem cells derived from the inner cell mass of early-stage embryos; self-renew indefinitely and differentiate into any cell type in the body

induced pluripotent stem cell

adult somatic cells (such as skin or blood) reprogrammed in a lab to behave like embryonic stem cells.

reverse genetics

begins with a known genetic sequence (genotype) and alters it to observe the resulting phenotypic changes, moving from genotype to phenotype

gene knock out

genetic engineering technique that disables or removes a specific gene in an organism to make it nonfunctional. By observing the resulting impact, scientists can determine the gene's original function, helping to understand its role in diseases.

RNAi

RNA interference - cellular process that regulates gene expression by silencing specific genes

CRISPR-Cas9

gene-editing technology that allows scientists to edit DNA by cutting, adding, or removing specific sections of the genome