Ch. 1 Information from the Human Genome

Human Genetics Ricki Lewis

allele

an alternate (variant) form of a gene

autosome

a chromosome that does not have a gene that determines sex

bioethics

a field that addresses personal issues that arise in applying medical technology and information

cell

the fundamental unit of life

chromosome

a highly wound continuous molecule of DNA and the proteins wrapped around it

deoxyribonucleic acid

DNA: the genetic material; the biochemical that forms genes

differentiation

cell specialization; reflecting differential gene expression

dominant

a gene variant whose effect is seen with only one copy

gene expression

when a gene is transcribed to produce mRNA.

gene pool

all of the alleles in a population

gene

a sequence of DNA that instructs a cell to produce a particular protein

genome

the complete set of genetic instructions in the cells of a particular type of organism

genomics

the study of the functions and interactions of many genes, or other DNA sequences, or comparing genomes

genotype

The allele combinations (genetic sequences) in an individual that cause particular traits or disorders

heredity

transmission of inherited traits from generation to generation

karyotype

a size-order chromosome chart

microbiome

all of the microbes that live in and on another organism.

mutation

a change in a protein-encoding gene that affects the phenotype and occurs in less than one percent of a population

pedigree

a chart of symbols connected by lines that depict the genetic relationships and transmission of inherited traits in related individuals

phenotype

the expression of a gene in traits or symptoms

recessive

an allele whose expression is masked by another allele

ribonucleic acid

RNA: a nucleic acid whose bases are Adenine, Cytosine, Uracil, and Guanine

sex chromosome

a chromosome containing genes that specify sex

stem cells

cells that give rise to other stem cells as well as to cells that differentiate

tissue

a group of similar cells that work together to perform a specific function in the body.

A (adenine) C (cytosine) T (thymine) G (Guanine)

The bases used in DNA.

U (uracil)

A nitrogenous base used in RNA instead of thymine.