Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Advanced Pathology > Week 4 DNA, Genetics, Patterns Of Inheritance > Flashcards

Week 4 DNA, Genetics, Patterns Of Inheritance Flashcards

1
Q

DNA is composed of:

A
  1. Deoxyribose sugar
  2. A phosphate
  3. A base
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

A DNA base includes:

A
  1. Thymine
  2. Cytosine
  3. Adenine
  4. Guanine
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

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

A

Sugar-phosphate backbone

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

Pyrimidine bases are:

A

T and C with 1 nitrogen ring

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

Purine bases are:

A

A and G with 2 nitrogen rings

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

DNA plus protein

A

Chromatin

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

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

A

Karyotyping

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

Involves division of the nucleus.

A

Mitosis

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

Involves division of the cell

A

Cytokinesis

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

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

A

DNA polymerase

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

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

A

Semiconservative

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

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

A

Methyl group

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

Mutations in germline cells can be

A

Inherited

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

Mutations in somatic cells are

A

Not inherited

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

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

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

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

A

A codon

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

Mutations that do not change the amino acid are called

A

Silent mutation

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

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

A

Missense mutations

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

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

A

Nonsense mutations

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

Somatic cells have 2 copies of each chromosomes and are called

A

Diploid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Gametes have only one copy of each chromosome and are called

A

Haploid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Involves the division of the nuclear material of a cell.

A

Mitosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Stages of mitosis

A

Prophase, metaphase, anaphase, telophase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Phase of mitosis were nuclear membrane dissolves and 2 copies of each chromosome (sister chromatic) attach at the centromere

A

Prophase

28
Q

Phase of mitosis where chromosomes are highly condensed and line up on the equatorial plane of the cell

A

Metaphase

29
Q

Phase of mitosis where sister chromatids and chromosomes are pulled apart

A

Anaphase

30
Q

Phase of mitosis where nuclear membrane forms around the 2 sets of chromosomes

A

Telophase

31
Q

Mitosis is followed by the forming of 2 daughter or progeny cells called

A

Cytokinesis

32
Q

Involves reduction divisions that take a diploids cell and creates a haploid cell with half the chromosomal info

A

Meiosis

33
Q

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

A

Meiosis I

34
Q

Equatorial division where sister chromatids are separated

A

Meiosis II

35
Q

Ensures that genetic info in the offspring is unique

A

Genetic recombination

36
Q

Segments of DNA that control biological characteristics that are passed down from generation to generation (hereditary traits)

A

Genes

37
Q

Genetic makeup of an organism

A

Genotype

38
Q

The observable characteristics of an organism produced by the interaction between genotype and the environment

A

Phenotype

39
Q

A genetic change found in the gametes and thus one that can be transmitted to offspring or inherited

A

Germline mutation

40
Q

A genetic change in one of the cells of the body that can not be transferred to offspring or inherited

A

Somatic mutations

41
Q

If both gene copies are the same at a specific allele

A

Homozygous trait

42
Q

If there are 2 different alleles of a particular gene at a locus

A

Heterozygous

43
Q

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.

A

Principle of segregation

44
Q

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

A

Principle of independent assortment

45
Q

Caused by a single defective or mutant gene that may be present on one or both alleles

A

Single-gene disorder

46
Q

Caused by an excess or deficiency of genes contained within a whole chromosome or chromosomal segment

A

Chromosomal disorders

47
Q

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

A

Multifactorial inheritance disorder

48
Q

A few disorders are characterized by different phenotypes depending upon whether the mutation was obtained from the mother or the father

A

Genomic imprinting

49
Q

Examples of single-locus genetic disorders that have autosomal recessive traits

A

CF and SCD

50
Q

Examples of single-locus genetic disorders that have autosomal dominant traits

A

Achondroplasia (dwarfism) and Marfan syndrome (connective tissue defects)

51
Q

Examples of single-locus genetic disorders that are x-linked recessive

A

Duchenne muscular dystrophy, hemophilia A, and G7PD deficiency

52
Q

These affects energy metabolism, present with multiple copies, and are inherited from the mother only

A

Mitochondrial disorders

53
Q

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

A

Marfan syndrome

54
Q

What gene is mutated in Marfan syndrome?

A

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
Q

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.

A

Hemophilia A

56
Q

Hemophilia affects only

A

Makes while women are carriers

57
Q

Treatment for hemophilia

A

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
Q

Mutations in this often result in disorders that reflect reduced energy production such as poor growth, loss of muscle coordination, and muscle weakness.

A

Mitochondrial DNA

59
Q

Complete sets of extra chromosomes

A

Polyploidy

60
Q

Chromosome number that is not 23. An example is trisomy 21. A common cause is nondisjunction.

A

Aneuploid

61
Q

Occurs due to nondisjunction and is associated with advanced maternal age.

A

Trisomy 21

62
Q

This occurs during meiosis when there is failure to separate chromosomes (meiosis I) or sister- chromatids (meiosis II)

A

Nondisjunction

63
Q

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.

A

Turner syndrome

64
Q

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.

A

Klinefelter syndrome

65
Q

Translocations 9 and 22 for a truncated chromosome 22 called

A

Philadelphia chromosome associated with leukemia

Advanced Pathology (3 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions