Unit 2.2 Quiz Review: Pedigrees, Mutations, and Karyotypes

This set of flashcards covers vocabulary for pedigree analysis, types of mutations, DNA and RNA structure, karyotyping, and DNA gel electrophoresis based on the 2.2 review lecture.

Pedigree Generation

Represented by each horizontal row in a pedigree analysis, with the topmost row being the oldest.

Squares (Pedigree)

The symbol used to represent males in a pedigree diagram.

Circles (Pedigrees)

The symbol used to represent females in a pedigree diagram.

Marfan syndrome

A dominant trait requiring only one copy of an allele to be affected.

Codon

A string of three nucleotides that codes for a specific amino acid.

Substitution

A point mutation where one letter is swapped out for another, potentially changing the amino acid while keeping codon frames the same.

Frameshift mutations

Mutations such as insertions and deletions that shift the reading frame of the genetic sequence.

Inversion

A chromosomal mutation where a piece of the chromosome breaks off and is reattached in a flip-flopped or backwards orientation.

Karyotype

An image of an individual's chromosomes, traditionally arranged from largest (number $1$) to smallest (number $22$), followed by sex chromosomes.

Trisomy

A condition in a karyotype where there are three of a particular chromosome instead of two.

Trisomy 21

A specific chromosomal condition commonly known as Down syndrome.

Nucleotide

The basic component of DNA consisting of a phosphate group, a deoxyribose sugar, and a nitrogenous base.

Nitrogenous bases (DNA)

The four bases in DNA: adenine, thymine, guanine, and cytosine.

Base pair rulings (DNA)

The principle that adenine bonds to thymine and guanine bonds to cytosine.

Uracil

The nitrogenous base found in RNA that substitutes for thymine and bonds with adenine.

Genetic crap

The term used for the approximately $90\%$ of chromosomes that does not currently have a known genetic function or code for proteins.

Histone proteins

Proteins that DNA coils around when it is bundled into chromosomes.

AUG

The mRNA sequence for methionine, which serves as a start codon.

Anticodon

The sequence found on tRNA that must be converted back to its complementary mRNA codon to be identified on a codon chart.

Translocation

A major chromosomal change where a part of one chromosome becomes stuck onto another chromosome, such as a $14-21$ translocation.

Central Dogma

The process where DNA sequences are used to create proteins, which in turn express an organism's physical traits.

Standard ladder

The first lane in a DNA gel used to show fragments of known lengths.

Familial hypercholesterolemia (FH)

A dominant genetic disorder that can be identified via DNA gel electrophoresis.

Heterozygote (DNA Gel)

An individual whose DNA gel lane shows more bands than homozygous individuals because it contains both normal and affected fragments.