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NURP 404 Patho > Genetics > Flashcards

Genetics Flashcards

1
Q

DNA Contains

A
  • Basic genetic information

- Its expressions as proteins determines the various functions of that cell

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2
Q

DNA Structure

A

Base (A, T, G, C) + sugar + phosphate

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3
Q

Chromosomes

A

23 pairs

22 autosomes, 1 sex chromosomes

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4
Q

Chromatin

A

DNA + protein (histones)

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5
Q

DNA Replication

A
  • S phase of cell cycle
  • Maintains genomic information using DNA polomerase
  • Semi-conservative replication
  • DNA repair of damaged due to replication errors or exposures
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6
Q

Mutation

A

Alteration in the DNA sequence

  • May involve the insertion or deletion of nucleotides
  • Can result in an aberrant protein sequence
  • Improper protein structure can affect function
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7
Q

Redundancy

A

(in the genetic code) not all mutations cause amino acid changes

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8
Q

Silent Mutations

A

Mutations that do not change the amino acid

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9
Q

Missense Mutations

A

Mutations that alter the amino acid and may or may not alter protein structure and thus function

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10
Q

Nonsense Mutations

A

Mutations that may introduce a stop to protein synthesis

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11
Q

Human Genome Project

A
  • Identify mutations associated with disease

- Identify markers of disease or predictors of disease risk or likelihood of response to certain drug treatments

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12
Q

Somatic Cells

A
  • Are cells other than the gametes (sperm & ova)
  • Contain 23 pairs of chromosomes located within the nucleus of the cell
  • Are DIPLOID - having 2 copies of each chromosome
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13
Q

Gamate Cells

A
  • Sperm & ova

- Are haploid - have only one copy of each chromosome

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14
Q

Diploid Nature

A
  • Of somatic cells is maintained by Mitosis
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15
Q

Haploid Nature

A

-Of gamete cells is maintained by Meiosis

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16
Q

Male sex chromosome

A

XY

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17
Q

Female sex chromosome

A

XX

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18
Q

Homologues Chromosomes

A

The members of each pair of autosomes

  • their sequences are very similar
  • Have different alleles or copies of each of the genes
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19
Q

Recombination

A

Genetic exchange of maternal and paternal information during meiosis

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20
Q

Mitosis

A

The division of the nuclear material of a cell

-goes from 1 diploid cell to 2 diploid cells

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21
Q

Prophase

A

Phase of mitosis

-The nuclear membrane dissolves and two copies of chromosome (sister chromatides) attach to at the centeromere

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22
Q

Metaphase

A

Phase of mitosis

-The chromosmes are highly condensed and line up on the equatorial plane of the cell

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23
Q

Anaphase

A

Phase of mitosis

- The sister chromotids separate, and the chromosomes are pulled apart

24
Q

Telophase

A

Phase of mitosis

-Where the nuclear membrane forms around the two sets of chromosomes

25
Q

Cytokinesis

A

Follows mitosis, forming two daughter or progeny cells

26
Q

Meiosis

A

Reduction divisions that take the chromosomal content of germline cells from diploid (23 pairs of chromosomes) to haploid (23 individual chromosomes)
-The process that produces the gamates - sperm and ovum that will fuse during fertilization to form the zygote

27
Q

Before meiosis and mitosis

A

the DNA is copied to form sister chromatids

28
Q

Meiosis I

A

the reduction division stage that results in the formation of 2 haploid cells per diploid cell

  • Homologous chromosomes line up in the middle of the cell —- separate to opposite sides of the cell
  • Random shuffling of maternal & paternal chromosomes occurs
  • Crossing over between homologous segments of the sister chromotids that make up each homologous chromosome occurs = genetic recombination = genetic information to offspring is unique
  • Result is 2 cells that contain 23 individual chromosomes, each has two copies or is composed of sister chromotids
29
Q

Meiosis II

A
  • Further separation of the sister chromotids generated in meiosis I to generate 4 cells each with one copy of the 23 homologous chromosomes
  • From the original diploid parent cell there are now 4 haploid cells that contain 1 copy of each chromosome
30
Q

Genotype

A

Genetic makeup

31
Q

Phenotype

A

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

32
Q

Germline Mutation

A

A genetic change found in the gametes

-Can be transmitted to offspring or inherited

33
Q

Somatic Mutation

A

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

34
Q

Mendel’s First Law

A

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
35
Q

Mendel’s Second Law

A

The principle of independent assortment

-States that genes for different traits assort independently of one another in gamete production

36
Q

Polyploidy

A

Complete sets of extra chromosomes

37
Q

Aneuploid

A

Chromosome number not 23 - Trisomy - nondisjunction is common cause (failure of that chromosome to split)
-Trisomy 21 = downs syndrome

38
Q

Alterations of chromosomal structure

A
  • Inversions
  • Deletions
  • Translocations
      • The truncated chromosome 22 - Philadelphia chromosome - associated with chronic myeloid leukemia
39
Q

Complex Genetic Disorders

A

Complex, multifactorial or polygenic
-Indicates possibly multiple mutations or genetic changes associated with a specific disease or that there is a combination between genetic and environmental factors, or both

40
Q

P

A

The generation that refers to the parental generation

41
Q

F1

A

For filius or son refers to the first generation, the first filial generation of the progeny of those parentals

42
Q

F2

A

Offspring of the F1 generation

43
Q

Homozygous trait

A

If both copies of the gene are the same at a specific allele

44
Q

Heterozygous trait

A

If there are two different alleles for that genetic locus

  • Parents are both heterozygous for a trait = Aa, Aa
    1: 4 (25%) chance that the offspring will have the disease - and will be homozygous recessive (aa)
  • 2:4 (50%) chance the offspring will be a carrier
  • 1:4 (25%) chance the child will be free of disease (wild)
45
Q

Single Trait Genetic Cross

A

If 2 parents are heterozygous for a trait (eg cystic fibrosis), the likelihood that any one of their children will have CF is:

  • – If a trait is dominant - 3/4 chance the child will exhibit trait
  • – If the trait is recessive - 1/4 chance the child will exhibit the trait
    - – 3/4 chance the child will be a carrier
46
Q

Single Gene disorders

A
  • Caused by mutations in individual genes

- May be present on one or both alleles

47
Q

Chromosomal disorders

A

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

48
Q

Multifactorial inheritance disorders

A
  • Caused by a combination of variables in a number of genes that together produce or predispose an individual to a serious defect
  • Often related to environmental factors
49
Q

Autosomal recessive traits

A

Single-locus genetic disorder

  • Cystic Fibrosis
  • Sickle cell anemia
50
Q

Autosomal dominant traits

A

Single-locus genetic disorder

  • Achondroplasia (dwarfism)
  • Marfan syndrome (connective tissue defects)
51
Q

X-linked recessive (sex linked)

A

Single-locus genetic disorder

  • Duchenne muscular dystrophy
  • Hemophilia A
52
Q

Mitochondrial

A

Single-locus genetic disorder

  • Affects energy metabolism
  • Presents with multiple copies
  • Is inherited from the mother only
53
Q

Nondisjunction

A

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

54
Q

Turner Syndrome

A

Chromosomal disorder involving sex chromosomes

-absence of all or part of the X chromosome

55
Q

Klineferlter Syndrome

A

Chromosomal disorder involving sex chromosomes

- One or more additional X chromosomes with a normal male composition (XY)

NURP 404 Patho (4 decks)

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