Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Genetics > Test #1 Introduction and Mendelian Inheritance > Flashcards

Test #1 Introduction and Mendelian Inheritance Flashcards

1
Q

What is the Human Genome Project?

A

The Human Genome Project (HGP) was an international scientific research project that aimed to map and understand all the genes of the human species. It was initiated in 1990 and completed in 2003, involving collaboration among scientists from various countries. The primary goals of the Human Genome Project were to identify and map all the genes in human DNA, determine the sequences of the chemical base pairs that make up human DNA, store this information in databases, and develop tools for analyzing and interpreting the data.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

How many nucleotides does the human genome have?

A

3.2 billion.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

How many genes do we have?

A

There are 23,000 genes.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is the fundamental unit of heredity that carries information for the development, functioning, and characteristics of living organisms, and is passed from one generation to the next through reproduction?

A

Genes.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is the study of heredity?

A

Genetics

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What does each cell contain?

A

Each cell contains 46 chromosomes into 23 pairs, 2 meters of DNA, approximately 3 billion DNA base pairs, and bases of A,T,C, and G.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are some uses of gene cloning?

A

Insulin, growth hormones, vaccine production, gene therapy, cotton, soybean, and canola.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is the first mammal to be cloned?

A

The first animal to be cloned is a sheep called Dolly in 1997.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is gene cloning?

A

Cloning is a process that creates genetically identical copies of an organism or a group of cells.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What are stem cells?

A

Stem cells are undefined cells that reproduce continuously and can develop any type of cells or tissues.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Where are stem cells more easily obtained from?

A

Embryos and umbilical cords.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Where are adult stem cells found?

A

Adult stem cells are found in the bone marrow and skin.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What’s the Griffith Experiment?

A

Griffith sought to investigate whether the virulence of the bacteria was due to a heritable genetic trait. To do this, he conducted a series of experiments using mice and two strains of S. pneumoniae: a virulent strain (smooth colonies) and a non-virulent strain (rough colonies).
Experiment 1 - Live Virulent and Dead Non-Virulent Bacteria: Griffith injected mice with live virulent bacteria, which resulted in their death from pneumonia. He then injected mice with dead non-virulent bacteria, which did not cause pneumonia, and the mice survived.
Experiment 2 - Heat-Killed Virulent Bacteria and Live Non-Virulent Bacteria: In this experiment, Griffith heat-killed the virulent bacteria to render them non-viable and injected them into mice. Surprisingly, the mice injected with the heat-killed virulent bacteria did not develop pneumonia and survived.
Experiment 3 - Mixture of Heat-Killed Virulent and Live Non-Virulent Bacteria: Griffith then combined heat-killed virulent bacteria with live non-virulent bacteria and injected them into mice. Strikingly, the mice developed pneumonia and died, showing symptoms similar to those caused by the virulent strain.
Conclusion: Griffith concluded that something in the heat-killed virulent bacteria had transformed the live non-virulent bacteria into a virulent form. He termed this phenomenon “transformation” and suggested that the genetic material from the dead virulent bacteria was somehow taken up by the live non-virulent bacteria, allowing them to acquire the ability to cause disease.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Was it proteins, carbohydrates, lipids, nucleic acids or proteins found to be the cause within the R strain?

A

Nucleic acids.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is the Hershey and Chase Experiment?

A

The Hershey and Chase experiment was conducted to prove if genes were made of proteins or DNA. In this experiment, two types of genetic material were tested. The S35 containing radioactive sulfur and P32 containing radioactive phosphorus. The proteins allowed for the phages to infect the bacteria. After infection, the empty phage protein coats were removed by agitating cells in a blender. The cells were recovered by centifruge.
The results of this study shows that most of 32P remained with the bacterial cells but S35 was found in the surrounding medium. This proved that DNA was the genetic material of bacteriophages.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Who found that DNA is a long, thin, helical molecule?

A

Rosalind Franklin used X-ray diffraction to discover the shape of DNA.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What is Chargaff’s Rule?

A

Chargaff’s Rule revealed that DNA from different cells of species contain the same percentage of the four bases, A,T,C, and G.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What does each nucleotides contain?

A

A five carbon sugar.
Phosphate group.
N containing aromatic base.
Purine(Adenine and Guanine)
Pyrimidines(Cytosine, Thymine and Uracil)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Describe the Double Helix Model.

A

The sugar phosphate backbones are on the outside of the helix with the bases on the inside. There are 10 pairs of nucleotide per complete turn and 0.34 nm per nucleotide pair. The diamter is 2 nm with enough to pair A=T and C=G. The two strands are held by hydrogen bonds.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What’s the difference between nucleoside and nucleotides?

A

Nucleoside only contains a base and sugar. Nucleotides contains a base, sugar, and a phosphate group.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What are some key differences between RNA and DNA?

A

DNA is double-stranded, forming a double helix, while RNA is usually single-stranded. The sugar in DNA is deoxyribose, whereas RNA contains ribose. Furthermore, DNA uses the bases adenine, thymine, cytosine, and guanine, while RNA uses adenine, uracil, cytosine, and guanine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What are the two types of DNA?

A

Naturally occurring right hand helix called B-DNA.
Left hand helix called Z-DNA.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What is the difference between eukaryotic and prokaryotics ribosomes?

A
  • Eukaryotic ribsomomes(80S) are generally larger, while the prokaryotic ribosomes(70S) are smaller in size.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What is the central dogma of biology?

A

DNA serves as a template for the synthesis of an RNA molecule, which then directs the synthesis of a protein product.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Explain transcription.
Transcription is the first step in gene expression. It involves copying a gene's DNA sequence to make an RNA molecule. Transcription is performed by enzymes called RNA polymerases, which link nucleotides to form an RNA strand (using a DNA strand as a template). Transcription has three stages: initiation(RNA polymerase binds to a region of genes called the promoter that signals DNA to unwind), elongation(the adding of nucleotides to the mRNA strand; RNA polymerase reads the unwound DNA strans and build the mRNA molecule) and termination(RNA polymerase crosses a stop(terminantion) sequence in the gene; mRNA strands detach from DNA). Shorten: a segment of DNA(a gene) that directs the synthesis of a complementary molecule of messenger RNA.
26
Explain translation.
Translation, as related to genomics, is the process through which information encoded in messenger RNA (mRNA) directs the addition of amino acids during protein synthesis. Translation takes place on ribosomes in the cell cytoplasm, where mRNA is read and translated into the string of amino acid chains that make up the synthesized protein. Shorten: a ribosome, a complex of ribosomal RNA and proteins, attaches to the mRNA to read the coded information, whereas transfer RNA(tRNA) molecules bring the correct amino acids to add to the polypeptide chain.
27
How does DNA convert into a single strand?
DNA convert into a single strand by breaking the hydrogen bond.
28
What are the different forms of coiling in DNA?
Relaxed: no twisting of the DNA. Positive supercoil: the DNA is twisted farther in the same direction as the helix. Negative supercoil: the DNA is twisted in the opposite direction as the helix; increases access to proteins involved in replication or transcription.
29
What are the two types of topoisomerases?
Type I: Introduce a single DNA break to release any tension on the DNA. Type II: Introduce double stranded breaks. Ex: DNA gyrase in bacteria.
30
What is the bacterial chromosome called?
The nucleoid. The nucleoid is when the larger DNA molecule is bound to a few non histone proteins. The nucleoid is negatively supercoiled and folded into loops.
31
What are the types of plasmids?
F(fertility) factors: involved in the process of conjugation. R(resistance) factors: carry genes providing drug resistance to the bacterium. Col(colinogenic) factors: allows bacteria to secrete colicins, compounds that kill nearby bacteria that lack the col factor. Virulence factors: enhance the ability to cause disease by producing toxic proteins. Metabolic plasmids: produce enzymes required for certain metabolic reactions. Criptic plasmids: have unknown functions.
32
What is called when DNA is bound to proteins?
Chromatin.
33
Why is DNA negatively charged?
DNA is negatively charged because of the phosphate group.The phosphate group in DNA (deoxyribonucleic acid) contains a negatively charged oxygen atom.
34
What are the 5 different types of histones?
H1, H2A, H2B, H3, and H4. Chromatin contains about the same amount of all histones except H1.
35
What helps cut DNA?
Nuclease.
36
What are histones?
Histones are a group of small basic proteins(positively charged) with high lysine and arginine content.
37
What is cytogenetics?
Cytogenetics is the field of genetics that involves the microscopic examination of chromosomes.
38
What is a karyotype?
A karyotype is a photographic representation of the chromosomes.
39
Who is the father of genetics?
Gregor Mendel.
40
Explain hybridization.
Hybridization is the crossing between two individuals of different species, producing a hybrid.
41
Why did Gregor Mendel choose peas to study?
Gregor Mendel chose to use peas because they have a varity with distinct characteristics and their structure allowed for easy crosses.
42
What's a monohybrid cross?
A monohybrid cross is the study of two variants within one cross.
43
What did Mendel hypothesized?
Mendel hypothesized that a pea pant contains two discrete hereditary factors, one from each parents. The factors may be identical or different. The two factors of a single trait are different such as dominant and recessive. During gamete formation, the pair factors will segregate so half of the gametes will recieve one factor and the other will recieve another.
44
What is pedigree analysis used for?
Pedigree analysis are usually used for determining the inheritance pattern of human genetic diseases.
45
What is the sum rule?
The sum rule is the probablitity that one of two(or more) equally exclusive events will occur is the sum of their individual probabilities. Keyword: All and Or Ex: If you roll a dice, you have a 1/6 chance of getting any number.
46
Explain the law of assortment.
During gamete formation, different pais of alleles segregate independently.
47
What made Mendel's experiment so successful?
Mendel's experiment was successful because the peas existed in varity with distinct characteristics and the structure allowed for easy crosses.
48
What are Mendel's Laws of Inheritance?
Law of Segregation: Alleles(alternative forms of the gene) pairs will segregate during the formation of gamete and reunite randomly during fertilization. Law of Independent Assortment: A pair of traits segregate independently of one another during gamete formation.
49
Name and explain the types of RNA in transcription and translation.
Messenger RNA (mRNA): RNA that is translated into a polypeptide. Ribosomal RNA (rRNA): integral component of the ribosome. Transfer RNA (tRNA): serves as intermediaries, bringing amino acids to the ribosome.
50
Explain what are plasmids.
Plasmid are small, circular DNA containing genes for their own replication and encoding genes for specific cellular functions.
51
What's the difference between genes and chromosomes?
Genes are structures within the cell that contains genes. Genes are sections of DNA on certain sections of chromosomes which are in the nucleus.
52
What are the different types of alleles?
Wild type allele: widespread within a population; function normally, made in the right amount. Mutant allele: alleles altered by mutation; does not function normally, is not made in the right amount.
53
What is the physical location of a gene on a chromosome is called?
A locus.
54
What are the differences between somatic and sex cells?
Somatic cells are body cells that are not sex cells. Somatic cells are diploid(two sets of chromosomes) and produced by mitosis. Sex cells aka gametes are sperm and egg cells produced through meiosis. Sex cells are haploid(one set of chromosomes).
55
Describe Incomplete Dominance.
Incomplete dominance is when the heterozygote exhibits a phenotype that is intermediate between the corresponding homozygotes. Ex: Red and White flowers produce a pink offspring.
56
Describe Incomplete Penetrance.
Incomplete penetrance is when a dominant allele is not always expressed.
57
What is expressivity?
Expressivity is the degree a trait is expressed.
58
Describe overdominance.
Overdominance is the phenomenon when a heterozygote is more vigorous than homozygotes. Ex: Sickle cell anemia
59
What are pseudoautosomal genes?
Pseudoautosomal genes are few genes found in the homologous regions of both X and Y chromosomes.
60
Described sex limited traits.
Sex limited traits are traits usually controlled autosomal genes present in both sexes but may present different phenotypes based on sex. Ex: Breast development is usually found in females while beard growth is usually found in males.
61
What are lethal alleles and the types?
Lethal alles are typically the result of a mutation of the essential genes(about 1/3 of all genes are essential) inherited in a recessive manner. Early lethal alleles: prevent cell division, can cause the organism to die. Late lethal alleles: show their effect later in life. Conditional lethal allele: may kill an organism when exposed to certain environmental conditions. Semi lethal allele: can kill some individuals but not all of them, based on evironmental factors and interaction with other genes.
62
What does pleiotropic effects refer to?
It usually refers to a single gene with a multiple effects on different phenotypes.
63
Explain gene interaction.
Gene interaction occurs when two or more genes influence a single trait.
64
Define epistasis.
A gene can mask the phenotype effects of another gene.
65
Define maternal effect.
Maternal effect describes the pattern of inheritance for specific nuclear genes in which the mother's genotype directly influence the offspring's phenotypes. The buildup of proteins that the mother gives to her developing eggs is the cause. This was first discovered in the 1920s by Boycott who studied the morphological features of a water snail.
66
Define epigenetic inheritance.
A pattern of modification that occurs to a nuclear gene or chromosome, which alters gene expression; however the expression changes are not permanent because DNA sequence does not change.
67
When can epigenetic changes occur?
Oogenesis, spermatogenesis, or early embryonic development.
68
Describe the Lyon Hypothesis.
The Lyon Hypothesis proposed that dosage compensation in mammals occur by the inactivation of a single X chromosome in females. This was hypothesized by Mary Lyon in 1961.
69
What is dosage compensation?
The process organisms differences in the number of active sex chromosomes.
70
What is a barr body?
A Barr body is a highly condensed, inactivated X chromosome in the nuclei of female mammals.
71
Describe the difference between extranuclear inheritance and epigenetic inheritance.
Extranuclear inheritance aka cytoplasmic inheritance involves genes in the organelles such as the chloroplasts(convert light energy into stable chemical energy) and mitochondria(provides energy for the cell). Epigenetic inheritance involves genes within the nucleus. Ex: Dosage compensation and genomic imprinting. These are are examples of non mendelian inheritance.
72
Describe genomic imprinting.
Genomic imprinting is the phenomenon in which the offspring expresses either the paternal or maternal inherited allele(but not both) based on how the genes are marked.
73
What are the three stages of imprinting?
Establishment of the imprint during gametogensis, maintenance of the imprint during embryogenesis and in adult somatic cells, and elimination and reestablishment of the imprint.
74
What controls imprinting?
Imprinting is controlled by an imprinting control region(ICR). The differentially methylated domain(DMD) is a portion of DNA responsible for controlling imprinting. The DMD is methylated in either the oocyte or sperm.
75
Describe how genominc imprinting is permanent.
Genomic imprinting is permanent. The marking of the alleles can be altered from generation to generation.
76
Describe the X inactivation mechanism.
Initiation: One of the X chromosomes is targeted to be inactive. Spreading: The chosen X chromosome is inactivated. Maintenance: The inactivated X chromosome is maintained as such during future cell divisions.
77
What is Xist in X inactivation?
Xist (X-inactive specific transcript) is a long RNA that wraps around the inactive X chromosomes which allows other proteins to bind and promote chromosomal compaction into a Barr body.
78
What is the product rule?
The probtability that two or more independent events occuring can be calculated by multiplying the individual probabilities of the events. Keywords: And
79
Simple Mendelian inheritance involves traits controlled by:
A single gene with only two different alleles. Alleles display a simple dominant/recessive relationship. Different traits are located on different chromosomes.
80
Describe sex linked genes.
Sex linked genes are traits controlled by genes located in only one of the sex chromosomes. X-linked: alleles are present only in the X chromosomes, males are hemizygous(only one allele on X), males are more likely to be affected(one allele is enough to show trait) Ex: Colorblindness. Y-linked: Alleles are present only in the Y chromosome, rare genes(females do not carry).
81
What are the characteristics of living things?
Cellular Organization: Must have a vellular structure. Homeostasis: The maintenanace of a relatively stable internal environment. Reproduction: The ability to form a new offspring. Metabolism: The ability to obtain and use energy for growth and movement. Heredity: Genetic material that is passed on during reproduction.
82
How does viruses passed their genetic material?
Viruses pass their characteristics from generation to generation by their RNA genomes.
83
Differences between Eukaryotes and Prokaryotes.
Eukaryotes have a nucleus while prokaryotes do not. Eukaryotes DNA is linear in the form of chromosomes while prokaryotes are circular and found in the nucleoid. Eukaryotes are wrapped around histone proteins while prokaryotes are wrapped around non-histone proteins(naked). Eukaryotes have a organelles while prokaryotes do not. Eukaryotes ribosomes(80S) are bigger than prokaryotes(70S).
84
What are autosomal genes?
Autosomal genes are genes that are located on non-sex chromosomes.
85
Who proposed that the Barr body is a highly condensed X-chromosome?
Susumu Ohno in 1960.
86
Who identified a highly condensed structure aka Barr body in the interphase nuclei of somatic cells in female cats but not in male cats?
Murray Bar in 1949.
87
What is the purpose of Xce in X inactivation?
Xce(X chromosome controlling element) affects the choice of the X chromosome to be inactivated.
88
What are the different RNA's involved in X inactivation mechanism?
Xist: promotes compaction. Tsix: prevents compaction Xce: regulated the transcription of the Xic region, thus influences the choice of active X chromosome.
89
What are the two results of methylation at DMD?
It could either: Enhance the binding of proteins that inhibit transcription. Inhibit the binding of proteins that enhance transcription.
90
What's the main function of the mitochondria?
The main function of the mitochondria is oxidative phosphorylation, a process used to generate ATP.
91
What's the genetic material in mitochondria is called?
mtDNA - Human mtDNA consists of only 17,000 bp. -Carries relatively few genes. mostly rRNA, tRNA, and the 23 genes that function in oxidative phosphorylation. - Most mitochondrial proteins are encoded by genes in the nucleus.
91
What's the main function of the chloroplasts?
Photosynthesis.
92
What's the genetic material of chloroplasts are called?
cpDNA. These are typically 10x larger than mitochondrial genome of animal cells. - Chloroplast proteins are encoded by genes in the nucleus. These proteins contain chloroplasts-targeting signals that direct them from the cytoplasm into the chloroplast.
93
Define maternal inheritance.
Maternal inheritance is the passing of genes from the mother to the offspring only. This is found in the genes present in the cytoplasm, particulary DNA of the mitochondria and the chloroplasts.
94
What are the chemical bonds that link amino acids?
Peptide bonds.
95
What are the chemical bonds that link nucleotides in RNA and DNA?
Phosphodiester bonds.
96
How are the loops of bacterial DNA held in place?
The loops of bacterial DNA are held in place by RNA and non-histone proteins.
97
Describe the nucleosome structure.
Nucleosomes are made of histone octamer of dimers of H2A, H2B, H3, and H4. 146 bp of the DNA is wrapped around the octamer, forming a core particle. The remaining 54 bp DNA(from the original 200 bp) is called linker DNA.
98
What's the general structure of an amino acid?
An amino acid consists of an amino group, side chain, and carboxyl group.
99
What's a nucleosome?
A nucleosome is the basic repeating subunit of chromatin packaged inside the cell's nucleus.
100
Chromosomes are composed of:
DNA, proteins, and in eukaryotes chromatin.
101
A nucleoid can contain more than one .... molecule.
DNA.
102
An organelle can contain more than one ...
Nucleoid.
103
In general, mitochondrial genomes are...
Fairly small in animals. Intermediate in size in fungi, algae, and protists. Fairly large in plants.
104
What's the function of genes designated ORF?
The function is to encode polypeptides with unknown functions.
105
Describe maternal inheritance in the four o clock plant.
The maternal inheritance occurs because the chloroplasts are transmitted only through the cytoplasm off the egg. The pollen grains do not transmit chloroplasts to the offspring.
106
Name the chemical bond that links nucleotides in RNA molecules.
Phosphodiester bonds.
107
What are the differences between incomplete dominance and co-dominance? Name one example of each.
Incomplete dominance, the heterozygote exhibits a phenotype that is an intermediate mixture between the corresponding homozygotes. The cross between homozyogus red and white flowers in four o clockplants produced intermediate heterozygous pink flowered plants. In co-dominance, the heterozygote independently expresses both alleles in the phenotype. For example, heterozygous blood type AB expresses the antigen IB and IA in the same individual.
108
Two homozygous individuals for the recessive allele of congenital analgesia diease plan to start a family and have 12 kids. What is the probability that the 1st, 3rd, and 11th kid will have congenital analgesia?
There's a 100% probabilkity that the first, third, and eleventh kid will have congenital analgesia. The individuals both contains aa which means the offsprings will also carry the aa trait.
109
What is Lyon hypothesis?
Lyon hypothesizes that only one X chromosome can remain active, and the other is shut off for dosage compensation.
110
What is the difference between maternal inheritance and maternal effect? Give example of each.
Maternal inheritance: DNA from organelles. Ex: Four o clock plant leaves. Maternal effect: Involve genes in the nucleus. The genotype of offspring does NOT directly govern the phenotype as predicted by Mendel's law. Ex: The snail curvature.
111
Define pleiotropic effects and give one example
Pleiotropic effect is when one gene has multiple effects on various traits. Ex: Cystic fibrosis.
112
What is the F1 generation resulting from the crossing of a full color male rabbit with an albino female?
Full color x Albino C C x cc = Cc 100% full color. C cch = Cc full and cch c Chincilla(50:50) C ch = Cc full and ch c Himalayan (50:50) Cc = Cc full and cc Albion (50:50) Dominance of hierarchy: C> cch> ch> c
113
There are three different types of antigens found in red blood...
Antigen A, which allele IA controls. Antigen B, which allele IB controls. Antigen O, which allele i controls.
114
How is the ABO blood group an example of codominant multiple alleles?
ABO blood group is controlled by multiple alleles. It's determined by the type of antigen present on the surface of red blood cells. Antigens: substances that are recognized by antibodies produced by the immune system. Allele IA and IB are codominant(both expressed in a heterozygous individual)

Genetics (2 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions