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Patho Exam 1 > Genetics > Flashcards

Genetics Flashcards

1
Q

Examples of Chromosomal Abnormalities

A
  • Alteration of chromosome number:
    • Polyploidy—complete sets of extra chromosomes
    • Aneuploid—chromosome number not 23—trisomy (trisomy 21 = Downs Syndrome)
      • nondisjunction is common cause- occurs during meiosis when there is failure to separate chromosomes ( meiosis I) or sister-chromatids (meiosis II)
  • Alteration in Chromosome Structure:
    • Inversions
    • Deletions
    • Translocations
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2
Q

Single-gene disorders

A
  • caused by mutations in individual genes
  • may be present on one or both alleles
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3
Q

_____ follows mitosis, forming two daughter or progeny cells

A

Cytokinesis

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4
Q

Which of the following statements is true about an individual who is a carrier for the cystic fibrosis (CF) gene?

  • Homozygous; suffers from CF
  • Homozygous; does not suffer from CF
  • Heterozygous; suffers from CF
  • Heterozygous; does not suffer from CF
A

Heterozygous; does not suffer from CF

If an individual is a carrier, they are heterozygous for the recessive trait (in this case, CF), but they do not display the trait (because the trait is recessive)

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5
Q

Mendels pundentt square

A

dominant and recessive alleles; homozygous and heterozygous

¼ = A ½ = Aa ¼ = a

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6
Q

Mendel’s first law

A

Mendel’s first law, the principle of segregation, states that the two members of a gene pair (alleles) segregate (separate) from each other in the formation of gametes; half of the gametes carry one allele, and the other half carry the other allele

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7
Q

involves the division of the nuclear material of a cell

A

Mitosis

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8
Q

When in cell cycle does DNA replication happen?

A

S phase of cell cycle maintains the genomic information using DNA polymerase

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9
Q

chromosome number that is not 23

A

aneuploid

an example is trisomy, trisome 21 is downs syndrome, a common cause is nondisjunction

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10
Q

two genes together might create a new phenotype

A

collaborative

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11
Q

Contains the basic genetic information, and its expression as proteins determines the various functions of that cell

A

DNA structure base A, T, G, C + sugar and phosphate

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12
Q

Meiosis I

A
  • Homologous chromosomes line up in the middle of the cell.
  • Homologous chromosomes separate to opposite sides of the cell.
  • Random shuffling of maternal and paternal chromosomes occurs.
  • Crossing over or exchange between homologous segments of the sister-chromatids that make up each homologous chromosome occurs.
  • Random shuffling and crossing over result in genetic recombination that ensures that genetic information in the offspring is unique.
  • Result is two cells that contain 23 individual chromosomes. Each of these chromosomes has two copies or is composed of sister-chromatids.
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13
Q

Genetic exchange of maternal and paternal information occurs during _____ through recombination

A

Meiosis

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14
Q

many genes can affect one trait

A

polygenic

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15
Q

What is semi-conservative replication?

A

when replicating each DNA molecule contains one original strand and one newly synthesized strand, it ensures that any mistakes or mutations introduced during the DNA replication process can be fixed

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16
Q

The diploid nautre of somatic cells is maintained by _____ while the haploid number in the gametes is obtained through a process called _____

A

Mitosis, Meiosis

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17
Q

Meiosis II

A

The result of meiosis I is two cells that each contain individual chromosomes that have been copied (sister-chromatids). There is no duplication of genetic material in between meiosis I and II. Meiosis II will involve the further separation of each of those sister-chromatids to generate four cells each with one copy of each of the 23 homologous chromosomes. Thus, from the original diploid parent cell there are now four haploid cells that contain one copy of each chromosome. Meiosis is the process that produces the gametes—sperm and ovum—that will fuse during fertilization to form the zygote

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18
Q

Identifies mutations associated with disease, identifies markers of disease or predictors of disease risk or likelihodd of response to certain drug treatments

A

Human Genome Project

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19
Q

one gene might depend on another

A

complementary

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20
Q

If an unaffected mother carries one normal and one mutant allele on her X chromosome, what are the chances that she will transmit the defective gene to her sons?

  • 25%
  • 50%
  • 75%
  • 100%
A

50%

Because a son receives the X sex chromosome from his mother (who has one normal and one mutant allele), there is a 50% chance that the mutant allele will be inherited.

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21
Q

The members of each pair of autosomes are also called _____

A

Homologues their sequences are very similar they have different “alleles” or copies of each of the genes

22
Q

Multifactorial Inheritance disorders

A
  • Caused by a combination of variations in a number of genes that together produce or predispose an individual to a serious defect
  • often in concert with environmental factors
23
Q

One of the chromosomes pairs consists of _______

A

sex chromosomes X and Y in males X and X in females the remaining chromosomes are called autosomes

24
Q

Single Locus genetic disorder, autosomal dominant traits

A
  • Marfan syndrome (connective tissue defects)
  • Achondroplasia (dwarfism)
25
Q

Single Locus Genetic disorder, Mitochondrial

A
  • Affects energy metabolism
  • presents with multiple copies
  • Is inherited from the mother only
26
Q

Involves the reduction divisions that take the chromosomal content of germline cells from diploid (23 pairs of chromosomes) to haploid (23 individual chromosomes)

A

Meiosis

27
Q

Explain the several phases of mitosis

A

PMAT

  • Prophase where the nuclear membrane dissolves and two copies of each chromosome (sister chromatids) attach at the centromere.
  • Metaphase where the chromosomes are highly condensed and line up on the equatorial plane of the cell.
  • Anaphase where the sister chromatids separate and the chromosomes are pulled apart.
  • Telophase where the nuclear membrane forms around the two sets of chromosomes.
28
Q

observable properties (traits) due to interaction between genotype and environment

A

Phenotype

29
Q

Examples of Sex Chromosome disorders

A
  • Turner Syndrome
    • absence of all or part of the X chromosome
    • lack of development of ovaries/sexual characteristics
  • Klinefelter syndrome
    • one or more additional X chromosome with a normal male composition (XY)
30
Q

Which type of chromosome alteration generally results in normal offspring?

Deletion

Inversion

Translocation

Ring formation

A

Translocation

Translocation is the only chromosomal alteration where no genetic material is actually lost (chromosome parts are exchanged), so the offspring are usually normal. Offspring are translocation carriers, so their children may or may not be normal.

31
Q

There are two cell divisions that occur during meiosis

A

Meiosis I involves the reduction division stage that results in the formation of two haploid cells per diploid cell. Homologous chromosomes separate, but sister-chromatids (copies) remain together. Meiosis II which involves an equatorial division where sister chromatids are separated.

32
Q

How is the use of complementary base pairing arranged

A

Anti-parallel orientation Double-helix

33
Q

What is chromatin made of?

A

DNA and protein (histones)

34
Q

Mutation that introduces a stop to protein synthesis

A

Nonsense Mutations

35
Q

Genetic Makeup

A

Genotype

36
Q

genetic change in one of the cells of the body and cannot be transferred to the offspring or inherited

A

somatic mutation

37
Q

both, multiple genes and the environment could affect one trait

A

multifactoral

38
Q

Mendels second law

A

the principle of independent assortment, states that genes for different traits assort independently of one another in gamete production.

39
Q

Single locus genetic disorder, autosomal recessive traits

A
  • Autosomal Recessive Traits
    • cystic fibrosis
    • Sickle Cell Anemia
40
Q

Chromosomal disorders

A
  • caused by an excess or deficiency of genes contained within a whole chromosome or chromosomal segment
41
Q

disease process associated with translocation of chromosomes 9 and 22 of the Philadelphia chromosome

A

chronic myeloid leukemia (CML)

42
Q

Errors in the DNA sequence are called _____ which may involve changes to a single nucleotide or larger regions of DNA

A

mutations

43
Q

a genetic change found in the gametes, thus can be transmitted to offspring or inherited

A

germline mutation

44
Q

_____ in the genetic code means that not all mutations cause amino acid changes

A
  • Redundancy Mutations that do not change the amino acid are called “silent”.
  • Mutations that alter the amino acid are termed “missense” and may or may not alter protein structure and thus function.
  • Other mutations may introduce a stop to protein synthesis and are called “nonsense”.
  • Mutations may involve the addition (insertion) or removal (deletion) of nucleotides in the DNA sequence.
45
Q

How many sets of chromosomes

A

23 pairs (autosomes and 1 set of sex chromosomes)

46
Q

Single locus genetic disorder, sex linked- X-linked recessive

A
  • Duchene Muscular Dystrophy
  • Hemophilia A
47
Q

Alteration of the DNA sequence (mutation) can give rise to ____

A

disease

48
Q

Mutations can result in an aberrent protein sequence and improper protein structure can affect _____

A

function

49
Q

complete sets of extra chromosomes

A

polyploidy

50
Q

___ are diploid, having two copies of each chromosome, while gametes are haploid, having only one copy of each chromosome

A

Somatic cells contains 23 pairs of chromosomes within the nucleus of that cell

Patho Exam 1 (6 decks)

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