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physical anthropology ⋆·˚ ༘ * > ˗ˏˋ biology and genetics ´ˎ˗ > Flashcards

˗ˏˋ biology and genetics ´ˎ˗ Flashcards

1
Q

what is ancient DNA (aDNA)?

A

molecules that can be found on artifacts such as stone tools and cooking vessels that reveal more about the past.
- typically degraded (i.e., damaged) due to exposure to the elements such as heat, acidity, and humidity.

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2
Q

what is the human genome project?

A

-began in 1990, completed in 2003.
- international, collaborative research program whose goal was the complete mapping and understanding of all the genes of human beings.
- all our genes together are known as our “genome.”

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3
Q

what are proteins?

A

chain of amino acids that folds into a three-dimensional structure that allows a cell to function in a variety of ways.

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4
Q

what are lipids?

A
  • fatty acid molecules that serves various purposes in the cell, including energy storage, cell signaling, and structure.
  • insoluble in water due to hydrophilic (water-loving) head and a hydrophobic (water-repelling) tail.
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5
Q

what are carbohydrates?

A

molecules composed of carbon and hydrogen atoms that can be broken down to supply energy.

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6
Q

what is nucleic acid?

A

a complex structure (like DNA or RNA) that carries genetic information about a living organism.

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7
Q

what is deoxyribonucleic acid (DNA)?

A
  • a molecule that carries the hereditary information passed down from parents to offspring.
  • can be described as a “double helix”’ shape.
  • includes two chains of nucleotides held together by hydrogen bonds with a sugar phosphate backbone.
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8
Q

what is a DNA sequence?

A
  • the order of nucleotide bases.
  • can be short, long, or representative of entire chromosomes or organismal genomes.
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9
Q

what is ribonucleic acid (RNA)?

A
  • single-stranded nucleic acid molecule.
  • different types found within cells and they perform a variety of functions, such as cell signaling and involvement in protein synthesis.
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10
Q

who is robert hooke?

A

in 1665, observed slices of plant cork under microscope; he called what he saw cella, meaning “small rooms” in latin.

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11
Q

what is a prokaryote?

A

a single-celled organism characterized by lack of nucleus and membrane-enclosed organelles.

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12
Q

what is a eukaryote?

A

single-celled or multicelled organism characterized by a distinct nucleus, with each organelle surrounded by its own membrane.

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13
Q

what is a microbiome?

A

the collective genomes of the community of microorganisms that humans have living inside of their body.

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14
Q

what are organelles?

A
  • a structure within a cell that performs specialized tasks that are essential for the cell. - different types each with its own function.
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15
Q

what are archaea?

A
  • a group of primitive prokaryotes that based on their distinct characteristics, form a separate domain from bacteria and eukaryotes.
  • distinct evolution aside from bacteria.
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16
Q

what are tissues?

A

a cluster of cells that are morphologically similar and perform the same task.

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17
Q

what are animal cells?

A
  • have a variety of different tissues.
  • have skin, made of keratin, acts in same protective way.
  • do not have a thicker membrane.
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18
Q

what are plant cells?

A
  • have a thicker membrane, made of cellulose.
  • outermost layer forms a waxy cuticle to protect it.
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19
Q

what is a phospholipid bilayer?

A

two layers of lipids that form a barrier due to the properties of a hydrophilic (water-loving) head and a hydrophobic (water-repelling) tail.

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20
Q

what is cytoplasm?

A

the “jelly-like” matrix inside of the cell that contains many organelles and other cellular molecules.

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21
Q

what is a nucleus?

A

double-membrane cellular organelle that helps protect DNA and also regulates nuclear activities.

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22
Q

what is mitochondrion?

A
  • specialized cellular organelle that is the site for energy production.
  • has its own genome (mtDNA).
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23
Q

what is adenosine triphosphate (ATP)?

A

a high-energy compound produced by mitochondria that powers cellular processes.

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24
Q

what is mitochondrial DNA (mtDNA)?

A

circular DNA segment found in mitochondria that is inherited maternally.

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25
Q

what is ribosomal RNA (rRNA)?

A

a ribosome-bound molecule that is used to correctly assemble amino acids into proteins.

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26
Q

what is a nuclear envelope?

A

a double-layered membrane that encircles the nucleus.

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27
Q

what is a mutation?

A
  • an alteration to the base sequence of DNA; a nucleotide sequence variation from the template DNA strand that can occur during replication.
  • mutations can also happen during recombination.
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28
Q

what are molecular geneticists?

A

biologists that study the structure and function of genes.

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29
Q

what are molecular anthropologists?

A

individuals who use molecular techniques (primarily genetics) to compare ancient and modern populations and to study living populations of humans and nonhuman primates.

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30
Q

who is rosalind franklin?

A
  • in 1953 discovered DNA structure, major for the scientific community.
  • used x-ray crystallography.
  • found the unique, double-helix shape.
  • credit given to watson, crick and wilkins and received nobel prize in 1962.
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31
Q

what are base pairs?

A
  • chemical bonding between nucleotides, like adenine (A) and thymine (T) or cytosine (C) and guanine (G) in the DNA; or (A) and (U) in RNA.
  • approximately three billion DNA base pairs in human cells.
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32
Q

what are nucleotides?

A

the basic structural component of nucleic acids, which includes DNA (A, T, C, and G) and RNA (A, U, C, and G).

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33
Q

what is the sugar phosphate backbone?

A
  • a biochemical structural component of DNA.
  • “backbone” consists of deoxyribose sugars and phosphate molecules.
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34
Q

what is unique about DNA?

A
  • highly organized.
  • DNA from one human, stretched out is 2 meters (6.5 feet) long.
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35
Q

what are histones?

A

protein that DNA wraps around to assist with DNA organization with the nucleus.

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36
Q

what are chromatins?

A
  • DNA wrapped around histone complexes.
  • during cell division, chromatin becomes a condensed chromosome.
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37
Q

what are chromosomes?

A

DNA molecule that is wrapped around protein complexes, including histones.

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38
Q

what is euchromatin?

A

loosely coiled chromosomes found within the nucleus that is accessible for regulatory processing of DNA.

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39
Q

how many pairs of chromosomes do humans have?

A
  • 23 pairs of chromosomes (total 46) in each cell’s nucleus.
  • different organisms have different numbers of chromosomes.
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40
Q

what are centromeres?

A
  • a structural feature that is defined as the “center” of a chromosome and that creates two different arm lengths.
  • also refers to the region of attachment for microtubules during mitosis and meiosis.
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41
Q

what are telomeres?

A

a compound structure located at the ends of chromosomes to help protect the chromosomes from degradation after every round of cell division.

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42
Q

what is DNA replication?

A

cellular process in which DNA is copied and doubled.

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43
Q

what is the cell cycle?

A

a cycle the cell undergoes with checkpoints between phases to ensure that DNA replication and cell division occur properly.

44
Q

what is semi-conservative replication?

A

DNA replication in which new DNA is replicated from an existing DNA template strand.

45
Q

what are the steps in DNA replication?

A
  • initiation: the recruitment of protein to separate DNA strands and begin DNA replication.
  • elongation: the assembly of new DNA from template strands with the help of DNA polymerases.
  • termination: the halt of DNA replication activity that occurs when a DNA sequence ”stop” codon is encountered.
46
Q

what is helicase?

A

a protein that breaks the hydrogen bonds that hold double-stranded DNA together.

47
Q

what is a leading strand?

A

DNA template strand in which replication proceeds continuously.

48
Q

what is a lagging strand?

A
  • DNA template strand that is opposite to the leading strand during DNA replication.
  • created in several disconnected sections and other enzymes fill in the missing nucleotide gaps between these sections.
49
Q

what are DNA polymerases?

A
  • enzyme that adds nucleotides to existing nucleic acid strands during DNA replication.
  • can be distinguished by their processivity (e.g., DNA replication).
50
Q

what is mitosis?

A

the process that somatic cells undergo to divide which results in two diploid daughter cells.

51
Q

what are somatic cells?

A

diploid cells that comprise body tissues and undergo mitosis for maintenance and repair of tissues.

52
Q

what does it mean to be diploid?

A

refers to an organism or cell with two sets of chromosomes.

53
Q

what are homologous chromosomes?

A

a matching pair of chromosomes wherein one chromosome is maternally inherited and the other is paternally inherited.

54
Q

what are sister chromatids?

A
  • during DNA replication, they are produced on the chromosome.
  • in cell division, they are pulled apart so that two cells can be formed.
  • in meiosis, they are also the sites of genetic recombination.
55
Q

what are gametes?

A

haploid cells referred to as an egg and sperm that will fuse together during sexual reproduction to form a diploid organism.

56
Q

what is meiosis?

A

the process that gametes undergo to divide which results in four haploid daughter cells.

57
Q

what is genetic recombination?

A

a cellular process that occurs during meiosis I in which homologous chromosomes pair up and sister chromatids on different chromosomes physically swap genetic information.

58
Q

what are chromosomal disorders?

A
  • they occur in mitosis or meiosis.
  • the 23rd pair of chromosomes in humans are what indicates biological sex.
59
Q

what is an aneuploid?

A

a cell with an unexpected amount of chromosomes. The loss or gain of chromosomes can occur during mitotic or meiotic division.

60
Q

what is karyotyping?

A

the microscopic procedure where the number of chromosomes in a cell is determined.

61
Q

what is down syndrome?

A

has three copies of the 21st chromosome.

62
Q

what is interphase?

A

preparatory period of the cell cycle when increased metabolic demand allows for DNA replication and doubling of the cell prior to cell division.

63
Q

what is klinefelter syndrome?

A
  • xxy.
  • a genetic condition in which a male is born with an extra copy of the X chromosome.
  • lower testosterone and body hair.
64
Q

what is triple X syndrome; trisomy X?

A
  • xxx.
  • a genetic condition in which a female is born with an extra copy of the X chromosome.
  • many women experience no side effects; most common is added height.
65
Q

what is turner syndrome?

A
  • xo.
  • a genetic condition in which a female is missing part, or all, of an X chromosome.
  • symptoms include short stature, delayed puberty, infertility, heart defects, and certain learning disabilities.
66
Q

what is protein synthesis?

A

a multi-step process by which amino acids are strung together by RNA machinery read from a DNA template.

67
Q

what are the steps of protein synthesis?

A
  • transcription: the process by which DNA nucleotides (within a gene) are copied, which results in a messenger RNA molecule.
  • translation: the process by which messenger RNA codons are read and amino acids are “chained together” to form proteins.
68
Q

how many types of amino acids are there?

A

20.

69
Q

what is messenger RNA (mRNA)?

A
  • RNA molecule that is transcribed from DNA.
  • its tri-nucleotide codons are “read” by a ribosome to build a protein.
70
Q

what is splicing?

A

the process by which mature mRNAs are produced. Introns are removed (spliced and exons are joined together.

71
Q

what is a gene?

A

segment of DNA that contains protein-coding information and various regulatory (e.g.; promoter) and noncoding (e.g. introns) regions.

72
Q

what is RNA polymerase?

A

an enzyme that catalyzes the process of making RNA from a DNA template.

73
Q

what are introns?

A

segment of DNA that does not code for proteins.

74
Q

what are exons?

A

protein-coding segment of a gene.

75
Q

what is a ribosome?

A

-a n organelle in the cell found in the cytoplasm or endoplasmic reticulum.
- it is responsible for reading mRNA and protein assemblage.

76
Q

what are codons?

A

a sequence that comprises three DNA nucleotides that together code for a protein.

77
Q

what is transfer RNA (tRNA)?

A
  • RNA molecule involved in translation. - transports amino acids from the cell’s cytoplasm to a ribosome.
78
Q

what is mendelian genetics?

A

a classification given to phenotypic traits that are controlled by a single gene.

79
Q

what is a genotype?

A

the combination of two alleles that code for or are associated with the same gene.

80
Q

what are alleles?

A

a non-identical DNA sequence found in the same gene location on a homologous chromosome, or gene copy, that codes for the same trait but produces a different phenotype.

81
Q

what is a punnett square?

A
  • square diagram that is used to predict the genotypes of a particular cross or breeding experiment.
  • named after reginald punnett, one of the first english genetics.
82
Q

what are heterozygous genotypes?

A

genotypes that consists of two different alleles.

83
Q

what are homozygous genotypes?

A

genotypes that consists of two identical alleles.

84
Q

what are cell surface antigens?

A

a protein that is found on a red blood cell’s surface.

85
Q

what are antibodies?

A

immune-related proteins that can detect and bind to foreign substances in the blood such as pathogens.

86
Q

what are codominance?

A

the effects of both alleles in a genotype can be seen in the phenotype.

87
Q

what is a pedigree?

A

a diagram of family relationships that indicates which members may have or carry certain genetic and/or phenotypic traits.

88
Q

what is a carrier?

A

an individual who has a heterozygous genotype that is typically associated with a disease.

89
Q

what is autosomal?

A

refers to a pattern of inheritance where an allele is located on an autosome.

90
Q

what is X-linked?

A

refers to a pattern of inheritance where the allele is located on the X or Y chromosome.

91
Q

what is incomplete dominance?

A

heterozygous genotype that produces a phenotype that is a blend of both alleles.

92
Q

what is a polygenic trait?

A
  • a phenotype that is controlled by two or more genes (hair and eye color).
  • human hair color is tied to melanin
  • oculocutaneous albinism occurs when there are two non-functioning copies of the gene TYR, the hair skin and eyes have little, to no melanin or coloring.
93
Q

what are complex diseases?

A

a category of diseases that are polygenic and are also influenced by environment and lifestyle factors
(cardiovascular disease, schizophrenia, alzheimer’s).
- can run in families, but are currently not fully understood how or when they are passed through generations.

94
Q

what is pathogenic?

A

a genetic mutation (i.e., allele) that has a harmful phenotypic disease-causing effect.

95
Q

what is penetrance?

A
  • the proportion of how often the possession of an allele results in an expected phenotype.
  • some alleles are more penetrant than others.
96
Q

what is a genome?

A

all the genetic information of an organism.

97
Q

what is genotyping?

A
  • a molecular procedure that is performed to test for the presence of certain alleles or to discover new ones
  • how we learned that humans and chimpanzees (as well as bonobos) share a lot of DNA.
98
Q

what is sequencing?

A

a molecular laboratory procedure that produces the order of nucleotide bases (i.e., sequences).

99
Q

what is epigenetics?

A
  • changes in gene expression that do not result in a change of the underlying DNA sequence.
  • typically involve DNA methylation and histone modifications.
  • changes are reversible and can also be inherited by the next generation.
100
Q

what is DNA methylation?

A

methyl groups bind DNA, which modifies the transcriptional activity of a gene by turning it “on” or “off”.

101
Q

what is an epigenetic profile?

A
  • the methylation pattern throughout a genome – that is, which genes (and other genomic sites) are methylated and unmethylated.
  • identical twins have their own epigenetic profiles, which become more different as they age.
102
Q

what is newborn screening?

A
  • has been available in the US for over 50 years.
    -one of the first tests available was for a phenylketonuria (PICU/PKU) diagnosis.
  • phenylketonuria(PICU/PKU) is birth defect that causes an amino acid called phenylalanine to build up in the body.
  • untreated phenylketonuria can lead to brain damage, intellectual disabilities, behavioral symptoms, or seizures.
  • it is treatable through dietary restrictions of protein.
103
Q

what is polymerase chain reaction (PCR)?

A

-molecular biology procedure that can make copies of genomic DNA segments.
- a small amount of DNA is used as a starting template and is then used to make millions of copies.

104
Q

what is sanger sequencing?

A
  • a process that involves the usage of fluorescently labeled nucleotides to visualize DNA (PCR fragments) at the nucleotide level.
  • several different types of alleles and genetic changes can be detected in DNA by using this analysis.
105
Q

what is direct-to-consumer (DTC) genetic disease testing?

A
  • done without the guidance of medical professionals.
  • should be used as a starting point for further testing of genetic diseases.
  • no further help or information and can be difficult to interpret by nonmedical professionals.
  • starting point for genetic carriers.
  • can help guide lifestyle moving forward.
106
Q

how does direct-to-consumer (DTC) ancestry testing work?

A
  • customers are genotyped.
  • alleles assigned to different ethnic groups.
107
Q

what are the benefits and disadvantages of direct-to-consumer (DTC) ancestry testing?

A
  • can help people who have lost their cultural ancestry.
  • some sites partnered with law enforcement.
  • results could change as the reference population grows.
  • does not automatically provide cultural ties to those groups.

physical anthropology ⋆·˚ ༘ * (23 decks)

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