Week 4 DNA, Genetics, Patterns Of Inheritance Flashcards

1
Q

DNA is composed of:

A
  1. Deoxyribose sugar
  2. A phosphate
  3. A base
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2
Q

A DNA base includes:

A
  1. Thymine
  2. Cytosine
  3. Adenine
  4. Guanine
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3
Q

A single strand of DNA is formed between the sugars and phosphates of nucleotides and is know as:

A

Sugar-phosphate backbone

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4
Q

Define complementary base pairing:

A
  1. Exclusive interaction between A and T involving 2 hydrogen bonds
  2. Exclusive interaction between G and C involving 3 hydrogen bonds
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5
Q

Pyrimidine bases are:

A

T and C with 1 nitrogen ring

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6
Q

Purine bases are:

A

A and G with 2 nitrogen rings

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7
Q

DNA plus protein

A

Chromatin

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8
Q

A process that involves evaluation of the number and content of the chromosomes.

A

Karyotyping

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9
Q

Involves division of the nucleus.

A

Mitosis

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10
Q

Involves division of the cell

A

Cytokinesis

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11
Q

DNA replication requires this to make a copy of the genetic info in each chromosome.

A

DNA polymerase

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12
Q

Since each resulting DNA molecule contains one original strand and one newly synthesized strand, DNA replication is termed

A

Semiconservative

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13
Q

Original DNA strand is marked with this so that DNA repair enzymes can identify mistakes.

A

Methyl group

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14
Q

Mutations in germline cells can be

A

Inherited

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15
Q

Mutations in somatic cells are

A

Not inherited

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16
Q

The genetic material is translated into protein by first being converted into an RNA molecule in the nucleus through a process called

A

Transcription

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17
Q

The RNA molecule exits the nucleus to the cytoplasm, where it is converted into protein info through a process called

A

Translation or protein synthesis

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18
Q

RNA is a macromolecule similar to DNA except:

A
  1. RNA is single stranded
  2. The sugar is RNA is ribose
  3. Uracil replaces thymine
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19
Q

This is 3 nucleotides in the messenger RNA (mRNA) sequence that specify an amino acid

A

A codon

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20
Q

Mutations that do not change the amino acid are called

A

Silent mutation

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21
Q

Mutations that alter the amino acid and may or may not alter protein structure and this function are called

A

Missense mutations

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22
Q

Other mutations may introduce a stop to protein synthesis and are called

A

Nonsense mutations

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23
Q

Somatic cells have 2 copies of each chromosomes and are called

A

Diploid

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24
Q

Gametes have only one copy of each chromosome and are called

A

Haploid

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25
Involves the division of the nuclear material of a cell.
Mitosis
26
Stages of mitosis
Prophase, metaphase, anaphase, telophase
27
Phase of mitosis were nuclear membrane dissolves and 2 copies of each chromosome (sister chromatic) attach at the centromere
Prophase
28
Phase of mitosis where chromosomes are highly condensed and line up on the equatorial plane of the cell
Metaphase
29
Phase of mitosis where sister chromatids and chromosomes are pulled apart
Anaphase
30
Phase of mitosis where nuclear membrane forms around the 2 sets of chromosomes
Telophase
31
Mitosis is followed by the forming of 2 daughter or progeny cells called
Cytokinesis
32
Involves reduction divisions that take a diploids cell and creates a haploid cell with half the chromosomal info
Meiosis
33
Reduction division stage that results in the formation of 2 haploid cells per diploid cell, and in which homologous chromosomes separate but sister chromatids (copies) remain together
Meiosis I
34
Equatorial division where sister chromatids are separated
Meiosis II
35
Ensures that genetic info in the offspring is unique
Genetic recombination
36
Segments of DNA that control biological characteristics that are passed down from generation to generation (hereditary traits)
Genes
37
Genetic makeup of an organism
Genotype
38
The observable characteristics of an organism produced by the interaction between genotype and the environment
Phenotype
39
A genetic change found in the gametes and thus one that can be transmitted to offspring or inherited
Germline mutation
40
A genetic change in one of the cells of the body that can not be transferred to offspring or inherited
Somatic mutations
41
If both gene copies are the same at a specific allele
Homozygous trait
42
If there are 2 different alleles of a particular gene at a locus
Heterozygous
43
This principle states that 2 members of a gene pair (alleles) separate from each other in the formation of the gametes and that half of the gametes carries one allele and the other half carries the other allele.
Principle of segregation
44
Principle that states genes for different traits assort independently of one another in gamete production and genes controlling different individual loci are not transmitted together to the portent but rather are inherited independently of one another
Principle of independent assortment
45
Caused by a single defective or mutant gene that may be present on one or both alleles
Single-gene disorder
46
Caused by an excess or deficiency of genes contained within a whole chromosome or chromosomal segment
Chromosomal disorders
47
Caused by a combo of variations in a number of genes that together produce or predispose an individual to a serious defect that are often in concert with environmental factors
Multifactorial inheritance disorder
48
A few disorders are characterized by different phenotypes depending upon whether the mutation was obtained from the mother or the father
Genomic imprinting
49
Examples of single-locus genetic disorders that have autosomal recessive traits
CF and SCD
50
Examples of single-locus genetic disorders that have autosomal dominant traits
Achondroplasia (dwarfism) and Marfan syndrome (connective tissue defects)
51
Examples of single-locus genetic disorders that are x-linked recessive
Duchenne muscular dystrophy, hemophilia A, and G7PD deficiency
52
These affects energy metabolism, present with multiple copies, and are inherited from the mother only
Mitochondrial disorders
53
An autosomal dominant disorder or the connective tissue with not structural changes found in the heart, blood vessels, joints, and eyes. People tend to unusually tall, with long limbs and digits
Marfan syndrome
54
What gene is mutated in Marfan syndrome?
FBN1 gene which encodes the connective tissue protein fibrillin-1, a component of the extracellular matrix including formation and maintenance of elastic fibers. It’s on chromosome 15
55
Results from a deficiency of clotting factor VIII that is caused by an inherited x-linked recessive trait with the defective gene located on the X chromosome.
Hemophilia A
56
Hemophilia affects only
Makes while women are carriers
57
Treatment for hemophilia
Includes replacing factor VIII. Mild hemophilia may be treated with desmopressin which helps the body release favor VIII stored within lining of blood vessels
58
Mutations in this often result in disorders that reflect reduced energy production such as poor growth, loss of muscle coordination, and muscle weakness.
Mitochondrial DNA
59
Complete sets of extra chromosomes
Polyploidy
60
Chromosome number that is not 23. An example is trisomy 21. A common cause is nondisjunction.
Aneuploid
61
Occurs due to nondisjunction and is associated with advanced maternal age.
Trisomy 21
62
This occurs during meiosis when there is failure to separate chromosomes (meiosis I) or sister- chromatids (meiosis II)
Nondisjunction
63
Absence of all or part of the X chromosome. Individuals exhibit short stature and lack ovaries and as a consequence there is a lack of secondary sexual characteristics.
Turner syndrome
64
One or more additional X chromosomes with a normal male composition (XY). Individuals exhibit testicular dysgenesis, enlarged breasts, small testes, and inability to produce sperm.
Klinefelter syndrome
65
Translocations 9 and 22 for a truncated chromosome 22 called
Philadelphia chromosome associated with leukemia