Chapter 3: The Biological Basis of Human Variation Flashcards

1
Q

genetics

A

the study of genes and how traits are transmitted from one generation to the next

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2
Q

genes

A

sequence of DNA that code for proteins

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3
Q

stem cells

A

unspecialized cells that have the ability to differentiate into specialized cells in the body

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4
Q

nucleus

A

a structure in eukaryotic cells that contains the genetic material

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5
Q

prokaryotes

A

organisms that lack a cell nucleus

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6
Q

pluripotent

A

having the ability to differentiate into different tissue types

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7
Q

eukaryotes

A

organisms that have within their cells a nucleus containing DNA

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8
Q

nucleotides

A

the basic structural units of a DNA or RNA molecule consisting of a phosphate, sugar, and base

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9
Q

bases

A

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

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10
Q

nuclear DNA (nDNA)

A

DNA found within the nucleus of a cell

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11
Q

chromosomes

A

structures composed of DNA and found in the nucleus of cells

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12
Q

locus

A

the location of a gene on a chromosome

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13
Q

mitochondria

A

structures within a cell that generate energy for the cell

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14
Q

replication

A

the process whereby a duplicate copy of a molecule (i.e., DNA) is made

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15
Q

enzymes

A

proteins that catalyze chemical reactions in the body

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16
Q

mutations

A

alterations to genes or chromosomes

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17
Q

point mutations

A

changes in base pairs of gene sequences

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18
Q

deletions

A

mutation characterized by the loss of DNA

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19
Q

insertions

A

mutations characterized by the addition of DNA into a length of chromosome

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20
Q

inversions

A

mutations in which a section of DNA is reversed

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21
Q

industrial melanism

A

increased pigmentation resulting from human modification of the environment, such as occurred during the Industrial Revolution

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22
Q

single nucleotide polymorphisms (SNPs)

A

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

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23
Q

protein synthesis

A

the process by which amino acids are assembled to form proteins

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24
Q

amino acids

A

molecules that make up proteins

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25
polypeptide
a chain of amino acids
26
ribosomes
structures found in cells that are involved in the assembly of proteins
27
RNA
ribonucleic acid
28
messenger RNA (mRNA)
a form of RNA that carries the genetic instructions of a DNA molecule to the site of protein synthesis
29
transcription
transfer of genetic information carried by DNA to RNA
30
cytoplasm
the substance found within the cell membrane and surrounding the nucleus
31
translation
synthesis of a chain of amino acids based on a message carried in RNA
32
codons
each codon is a unit of three bases/nucleotides that code for a particular amino acid
33
genetic code
the sequence of nucleotides in DNA or RNA that determines the specific amino acid sequence in protein synthesis
34
transfer RNA (tRNA)
RNA molecules that carry amino acids to ribosomes where they are used in protein synthesis
35
somatic cells
all cells in the body, with the exception of sex cells
36
mitosis
division of the somatic cells resulting in the production of two identical daughter cells
37
diploid
having a full set of paired chromosomes; in humans, each somatic cell contains 23 pairs of chromosomes
38
gametes
sex cells; ovum or sperm
39
meiosis
cell division resulting the formation of the sex cells
40
haploid
having a single set of unpaired chromosomes; in humans, each of our sex cells contains 23 single-stranded chromosomes
41
zygote
fertilized egg
42
karyotype
arrangement of the full set of chromosomes by numbered pairs
43
autosomal chromosomes
chromosomes other than the sex chromosomes
44
oogonia
ovarian cells
45
spermatogonia
testicular cells
46
primary oocytes
immature ova
47
polar bodies
small cells that are the by-product of meiosis in females
48
recombination (crossing over)
the exchange of genes between homologous chromosomes during meiosis
49
homologous chromosomes
chromosomes that go together in a pair
50
nondisjunction
the failure of chromosomes pairs to separate properly during meiosis
51
trisomy
a conditions characterized by an extra chromosome
52
monosomy
a condition characterized by the absence of one copy of a chromosome pair
53
discrete (Mendelian) traits
traits that are controlled by genes at a single locus; also referred to as monogenic traits
54
cross-fertilized
plants (or animals) that are fertilized by fusing the reproductive cells of two different organisms belonging to the same species
55
phenotype
the observable characteristic of an organism
56
alleles
alternative forms of a gene
57
dominant
the allele or trait that is expressed
58
recessive
the unexpressed allele or trait that is genetically hidden by its dominant counterpart
59
Punnett square
a way of graphically representing the genotypic outcomes when crossing organisms with the same or different genotypes
60
genotype
the genetic makeup of an organism
61
homozygous
having two identical alleles at a single genetic locus
62
heterozygous
having two different alleles at a single genetic locus
63
monogenic traits
traits that are controlled by genes at a single locus
64
co-dominant
a trait in which both alleles are expressed
65
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
66
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
67
sex-linked
traits that are controlled by genes located on one of the sex chromosomes
68
X-linked
traits that are controlled by genes located on the X chromosomes
69
carriers
individuals who are heterozygous for a recessive trait and who do not physically manifest the trait
70
pedigree
a diagram that illustrates the transmission of a genetic trait from one generation to subsequent generations of a family
71
pleiotropies
genes that influence more than one trait
72
phenylketonuria (PKU)
a genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase, resulting in the accumulation of excessive amounts of phenylalanine
73
polygenic traits
phenotypic characteristics influenced by multiple genes; also known as "continuous traits"
74
heritability
the proportion of phenotypic variation that can be ascribed to genotypic variation in a specific population
75
noncoding DNA
multiple copes of a base sequence that may be repeated on the same chromosome or dispersed throughout the genome
76
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
77
polymerase chain reaction (PCR)
a technique used to amplify or make copies of DNA