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
Q

polypeptide

A

a chain of amino acids

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26
Q

ribosomes

A

structures found in cells that are involved in the assembly of proteins

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27
Q

RNA

A

ribonucleic acid

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28
Q

messenger RNA (mRNA)

A

a form of RNA that carries the genetic instructions of a DNA molecule to the site of protein synthesis

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29
Q

transcription

A

transfer of genetic information carried by DNA to RNA

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30
Q

cytoplasm

A

the substance found within the cell membrane and surrounding the nucleus

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31
Q

translation

A

synthesis of a chain of amino acids based on a message carried in RNA

32
Q

codons

A

each codon is a unit of three bases/nucleotides that code for a particular amino acid

33
Q

genetic code

A

the sequence of nucleotides in DNA or RNA that determines the specific amino acid sequence in protein synthesis

34
Q

transfer RNA (tRNA)

A

RNA molecules that carry amino acids to ribosomes where they are used in protein synthesis

35
Q

somatic cells

A

all cells in the body, with the exception of sex cells

36
Q

mitosis

A

division of the somatic cells resulting in the production of two identical daughter cells

37
Q

diploid

A

having a full set of paired chromosomes; in humans, each somatic cell contains 23 pairs of chromosomes

38
Q

gametes

A

sex cells; ovum or sperm

39
Q

meiosis

A

cell division resulting the formation of the sex cells

40
Q

haploid

A

having a single set of unpaired chromosomes; in humans, each of our sex cells contains 23 single-stranded chromosomes

41
Q

zygote

A

fertilized egg

42
Q

karyotype

A

arrangement of the full set of chromosomes by numbered pairs

43
Q

autosomal chromosomes

A

chromosomes other than the sex chromosomes

44
Q

oogonia

A

ovarian cells

45
Q

spermatogonia

A

testicular cells

46
Q

primary oocytes

A

immature ova

47
Q

polar bodies

A

small cells that are the by-product of meiosis in females

48
Q

recombination (crossing over)

A

the exchange of genes between homologous chromosomes during meiosis

49
Q

homologous chromosomes

A

chromosomes that go together in a pair

50
Q

nondisjunction

A

the failure of chromosomes pairs to separate properly during meiosis

51
Q

trisomy

A

a conditions characterized by an extra chromosome

52
Q

monosomy

A

a condition characterized by the absence of one copy of a chromosome pair

53
Q

discrete (Mendelian) traits

A

traits that are controlled by genes at a single locus; also referred to as monogenic traits

54
Q

cross-fertilized

A

plants (or animals) that are fertilized by fusing the reproductive cells of two different organisms belonging to the same species

55
Q

phenotype

A

the observable characteristic of an organism

56
Q

alleles

A

alternative forms of a gene

57
Q

dominant

A

the allele or trait that is expressed

58
Q

recessive

A

the unexpressed allele or trait that is genetically hidden by its dominant counterpart

59
Q

Punnett square

A

a way of graphically representing the genotypic outcomes when crossing organisms with the same or different genotypes

60
Q

genotype

A

the genetic makeup of an organism

61
Q

homozygous

A

having two identical alleles at a single genetic locus

62
Q

heterozygous

A

having two different alleles at a single genetic locus

63
Q

monogenic traits

A

traits that are controlled by genes at a single locus

64
Q

co-dominant

A

a trait in which both alleles are expressed

65
Q

principle of segregation

A

the separation of alleles during the production of sex cells so that each sex cell contains only one allele from each parent

66
Q

principle of independent assortment

A

the distribution of one pair of alleles into the sex cells does not influence the distribution of another pair of alleles

67
Q

sex-linked

A

traits that are controlled by genes located on one of the sex chromosomes

68
Q

X-linked

A

traits that are controlled by genes located on the X chromosomes

69
Q

carriers

A

individuals who are heterozygous for a recessive trait and who do not physically manifest the trait

70
Q

pedigree

A

a diagram that illustrates the transmission of a genetic trait from one generation to subsequent generations of a family

71
Q

pleiotropies

A

genes that influence more than one trait

72
Q

phenylketonuria (PKU)

A

a genetic disorder characterized by a deficiency in the enzyme phenylalanine hydroxylase, resulting in the accumulation of excessive amounts of phenylalanine

73
Q

polygenic traits

A

phenotypic characteristics influenced by multiple genes; also known as “continuous traits”

74
Q

heritability

A

the proportion of phenotypic variation that can be ascribed to genotypic variation in a specific population

75
Q

noncoding DNA

A

multiple copes of a base sequence that may be repeated on the same chromosome or dispersed throughout the genome

76
Q

ancient DNA (aDNA)

A

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
Q

polymerase chain reaction (PCR)

A

a technique used to amplify or make copies of DNA