Chapter 3: The Biological Basis of Human Variation Flashcards
genetics
the study of genes and how traits are transmitted from one generation to the next
genes
sequence of DNA that code for proteins
stem cells
unspecialized cells that have the ability to differentiate into specialized cells in the body
nucleus
a structure in eukaryotic cells that contains the genetic material
prokaryotes
organisms that lack a cell nucleus
pluripotent
having the ability to differentiate into different tissue types
eukaryotes
organisms that have within their cells a nucleus containing DNA
nucleotides
the basic structural units of a DNA or RNA molecule consisting of a phosphate, sugar, and base
bases
chemical units making up part of DNA and RNA molecules. There are four bases in DNA: adenine, thymine, guanine, and cytosine. In RNA, thymine is replaced with uracil
nuclear DNA (nDNA)
DNA found within the nucleus of a cell
chromosomes
structures composed of DNA and found in the nucleus of cells
locus
the location of a gene on a chromosome
mitochondria
structures within a cell that generate energy for the cell
replication
the process whereby a duplicate copy of a molecule (i.e., DNA) is made
enzymes
proteins that catalyze chemical reactions in the body
mutations
alterations to genes or chromosomes
point mutations
changes in base pairs of gene sequences
deletions
mutation characterized by the loss of DNA
insertions
mutations characterized by the addition of DNA into a length of chromosome
inversions
mutations in which a section of DNA is reversed
industrial melanism
increased pigmentation resulting from human modification of the environment, such as occurred during the Industrial Revolution
single nucleotide polymorphisms (SNPs)
genetic variations that are produced by the substitution of a single nucleotide in a sequence. SNPs are point mutations that occur in at least 1% of the population
protein synthesis
the process by which amino acids are assembled to form proteins
amino acids
molecules that make up proteins
polypeptide
a chain of amino acids
ribosomes
structures found in cells that are involved in the assembly of proteins
RNA
ribonucleic acid
messenger RNA (mRNA)
a form of RNA that carries the genetic instructions of a DNA molecule to the site of protein synthesis
transcription
transfer of genetic information carried by DNA to RNA
cytoplasm
the substance found within the cell membrane and surrounding the nucleus
translation
synthesis of a chain of amino acids based on a message carried in RNA
codons
each codon is a unit of three bases/nucleotides that code for a particular amino acid
genetic code
the sequence of nucleotides in DNA or RNA that determines the specific amino acid sequence in protein synthesis
transfer RNA (tRNA)
RNA molecules that carry amino acids to ribosomes where they are used in protein synthesis
somatic cells
all cells in the body, with the exception of sex cells
mitosis
division of the somatic cells resulting in the production of two identical daughter cells
diploid
having a full set of paired chromosomes; in humans, each somatic cell contains 23 pairs of chromosomes
gametes
sex cells; ovum or sperm
meiosis
cell division resulting the formation of the sex cells
haploid
having a single set of unpaired chromosomes; in humans, each of our sex cells contains 23 single-stranded chromosomes
zygote
fertilized egg
karyotype
arrangement of the full set of chromosomes by numbered pairs
autosomal chromosomes
chromosomes other than the sex chromosomes
oogonia
ovarian cells
spermatogonia
testicular cells
primary oocytes
immature ova
polar bodies
small cells that are the by-product of meiosis in females
recombination (crossing over)
the exchange of genes between homologous chromosomes during meiosis
homologous chromosomes
chromosomes that go together in a pair
nondisjunction
the failure of chromosomes pairs to separate properly during meiosis
trisomy
a conditions characterized by an extra chromosome
monosomy
a condition characterized by the absence of one copy of a chromosome pair
discrete (Mendelian) traits
traits that are controlled by genes at a single locus; also referred to as monogenic traits
cross-fertilized
plants (or animals) that are fertilized by fusing the reproductive cells of two different organisms belonging to the same species
phenotype
the observable characteristic of an organism
alleles
alternative forms of a gene
dominant
the allele or trait that is expressed
recessive
the unexpressed allele or trait that is genetically hidden by its dominant counterpart
Punnett square
a way of graphically representing the genotypic outcomes when crossing organisms with the same or different genotypes
genotype
the genetic makeup of an organism
homozygous
having two identical alleles at a single genetic locus
heterozygous
having two different alleles at a single genetic locus
monogenic traits
traits that are controlled by genes at a single locus
co-dominant
a trait in which both alleles are expressed
principle of segregation
the separation of alleles during the production of sex cells so that each sex cell contains only one allele from each parent
principle of independent assortment
the distribution of one pair of alleles into the sex cells does not influence the distribution of another pair of alleles
sex-linked
traits that are controlled by genes located on one of the sex chromosomes
X-linked
traits that are controlled by genes located on the X chromosomes
carriers
individuals who are heterozygous for a recessive trait and who do not physically manifest the trait
pedigree
a diagram that illustrates the transmission of a genetic trait from one generation to subsequent generations of a family
pleiotropies
genes that influence more than one trait
phenylketonuria (PKU)
a genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase, resulting in the accumulation of excessive amounts of phenylalanine
polygenic traits
phenotypic characteristics influenced by multiple genes; also known as “continuous traits”
heritability
the proportion of phenotypic variation that can be ascribed to genotypic variation in a specific population
noncoding DNA
multiple copes of a base sequence that may be repeated on the same chromosome or dispersed throughout the genome
ancient DNA (aDNA)
DNA in ancient (i.e., nonmodern) remains recoverable from hard tissues (bones and teeth) and in exceptional cases of preservation, from hair and soft tissue
polymerase chain reaction (PCR)
a technique used to amplify or make copies of DNA