Human Genetics Concepts and Applications Section I

Genetics

The study of inherited variation

Cells

The fundamental unit of life

RNA

A nucleic acid responsible for constucting proteins

DNA

The nucleic acid that makes up our genetic material

Gene

A sequence of DNA that instructs a cell to manufacture a specific protein

Chromosome

A continuous molecule of DNA and proteins

Genome

An organism's complete set of genetic constructions

Genomics

The study of the function and interactions between genes, DNA sequences, or genomes

Alelle

The variant of a gene

Mutation

A process by which an organism's DNA becomes altered

Gene pool

All genes in a given population

Dominant

The gene variant that is expressed when present in a single copy

Recessive

An alelle whose presence is masked by the presence of another alelle

Genotype

The combination of alleles in an organism, giving it specific traits or disorders

Phenotype

The expression of a gene in traits or sypmtoms

Multi-factorial Traits

Traits determined by several genes and the environment

Homozygous (homo)

Same

Heterozygous (hetero)

Different

Locus

Location of a gene on a chromosome

Wild Type

Most commonly observed genotype/phenotype

Monohybrid cross

Cross of a single trait

Dihybrid cross

Cross of 2 traits

Mendel's Law of Segregation

2 copies of a gene separate into different gametes (sex cells)

Mendel's Law of Independent Assortment

For 2 genes on different chromosomes, the inheritance of one does not influence the chance of inheriting the other

Pedigree

Chart that depicts relationships and transmission of inherited traits

Incomplete dominance

One trait is not expressed dominantly over the other (ex. snapdragons)

Epistasis

The interaction between 2 different genes that affects the expression of one over the other (2 or more genes influence a trait, but one gene overrides the other) (ex. albinism)

Co-dominance

Both dominant traits are expressed and no one trait is dominant over the other (ex. AB blood type)

Pleiotropy

A single gene is responsible for the control of several functions or multiple effects

Genetic heterogeneity

2 or more different genes produce the same phenotype (ex. Alzheimer's, Cystic Fibrosis)

Linkage

Genes on the same chromosome do NOT independently assort and do NOT produce Mendelian ratios

Crossing over

The exchange of information between chromosomes that leave them altered from their original state (exchange between homologs that mixes parental gene combos)

Recombinant

Non-parental allele combo in offspring

Sexual Identity

Determined by how genes are related to the sex chromosomes X, Y (includes sex chromosome make up, gender identity)

Autosomes

22 pairs of chromosomes

Heterogametic

Males have different gametes (both X and Y) and determine the sex of the child by the activation of the SRY gene

Homogametic

Females have two gametes of the same type (XX) and are absent of the SRY gene activation

SRY Gene

Encodes a transcription factor and is a protein that controls the expression of other genes.

Hemizygous

Males that have 1 set of X-linked genes

Genomic Imprinting

When a phenotype differs dependig on whether a gene is inherited from the mother or father (trait or illness could be more severe depending upon which parent transmitted the allele)

Polygenetic traits

Traits that are detemined by more than one gene

Polygenic pure traits

Traits not influenced by environment but is determined by more than one gene

Polygenic multifactorial traits

Traits/illnesses determined by several genes and the environment

Heritability

An estimate of the proportion of phenotypic variation in a group due to genetic differences that focuses on the genetic component of variation in traits that changes as the environment changes