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Cellular Genetics and the Cell Cycle > Basics of genetic inheritance > Flashcards

Basics of genetic inheritance Flashcards

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Biology 101 flashcards
1
Q

Definition of genotypes

A

The genetic constitution of an organism

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2
Q

Definition of monogenic

A

Associated with 1 gene

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3
Q

Definition of polygenic

A

Associated with many genes

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4
Q

Definition of pharmacogenics

A

Patient’s genotype dictates prescribed drugs (personalized medicine)

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5
Q

Definition of genes

A

Discrete units of inheritance, distributed across chromosomes
Composed of DNA found around histones

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6
Q

Definition of chromatin

A

DNA+ protein=chromatin

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7
Q

Definition of karyotype

A

An individual collection of chromosmes

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8
Q

Definition of autosomal

A

Not a sex chromosome

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9
Q

Definition of G banding

A

Alternate light and dark bands, each chromosome pair has characteristic pattern

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10
Q

Definition of cytogenetics

A

Study of the genetic compound of a cell through visualization, analysis of chromosomes

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11
Q

Definition of metacentric

A

Centromere in center of chromosome

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12
Q

Definition of submetacentric

A

Centromere not in center of chromosome

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13
Q

Definition of acrocentric

A

Centromere just under stalk and satellite of chromosome

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14
Q

Definition of pseudoautosomal

A

Present on sex chromosomes but inherited in an autosomal way

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15
Q

Definition of heterochromatin

A

Condensed DNA, genetically inactive

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16
Q

Definition of euchromatin

A

Loosely packed chromatin, genetically active

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17
Q

Definition of aneuploidy

A

Irregular no of chromosomes, caused by non disjunction

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18
Q

Definition of trisomy

A

3 copies of a chromosome

19
Q

Definition of monosomy

A

1 copy of a chromosome

20
Q

Definition of euploidy

A

complete chromosome set

21
Q

Definition of non disjunction

A

Failure of homologous chromosomes to separate properly during meiosis, inaccurate segregation

22
Q

Definition of locus

A

Chromosomal location

23
Q

Definition of allele

A

Variant of a gene

24
Q

Definition of recessive

A

Phenotype of allele can be masked

25
Q

Definition of dominant

A

Phenotype masks recessive allele

26
Q

Definition of homozygous

A

2 of the same allele

27
Q

Definition of heterozygous

A

2 different alleles

28
Q

Definition of multifactorial

A

Influenced by genes and environment

29
Q

Definition of wild type allele

A

The most common form of an allele that has not mutated

30
Q 
Structure of genes in DNA with widths
DNA double helix
Chromatin
Nucleosome
Extended chromosome
Condensed chromosome
A 
2nm DNA double helix
11nm Chromatin = DNA + histones
30nm Nucleosome
300nm Extended section of chromosome
700nm Condensed section of chromosome
31
Q

What is the human karyotype
How do you study it
What is the nomenclature used for a euploid male and female

A

Individual’s set of chromosomes (23 pairs)
22 autosomal, 1 sex pair

Studied in cytogenetics, giemsa stain => G banding

46XX, 46XY

32
Q

What are the 3 properties that differentiate different chromosomes

A

Size

G band pattern

Centromere location and arm length (pq)

  • metacentric
  • submetacentric
  • acrocentric
33
Q

Importance of replicating chromosomes and method of replication

A

Development, growth, replace lost cells in mitosis

Transmission of genetic info to offspring, meiosis

34
Q

Describe the steps of mitosis

  • Interphase
  • Prophase
  • Metaphase
  • Anaphase
  • Telophase and cytokinesis

What is the result?

A

Interphase
-Duplication

Prophase
-Condensation

Metaphase
-Line up on equator

Anaphase
-Pulled apart at centromere

Telophase and cytokinesis
-Cytoplasm pinches => 2 diploid daughter clones

35
Q

Describe the steps of meiosis

  • Interphase
  • Prophase I
  • Metaphase I
  • Anaphase I
  • Prophase II
  • Metaphase II
  • Anaphase II
  • Telophase and cytokinesis

What is the result

A

Interphase
-Duplication

Prophase I
-Condensation, homologous chromosomes crossover

Metaphase I
-Pairs line up on equator

Anaphase I
-Pairs separated but chromatids stay together

Prophase II
-2 daughter cells

Metaphase II
-Sister chromatids line up on equator

Anaphase II
-Sister chromatids separate

Telophase and cytokinesis
-4 genetically unique granddaughter haploid

36
Q

Describe the relative sizes of the sperm and egg and why

A

4 eggs => 1 egg, cytoplasm merges to maximize survival

Egg > sperm

37
Q

What defines maleness on the Y chromosome

When can someone show male characteristics with XX?

When can someone show female characteristics with XY?

A

SRY = defines maleness (testes determining factor)
Found in MSY with euchromatin and heterochromatin

SRY in XX

No SRY in XY

38
Q

What percentage of aneuploidies/trisomies end in spontaneous aborton

What aneuploidies result in viable offspring and why

A

50%

Downs = 21 (characterized by simian crease)
Patau = 13
Edward = 18
Klinefelter = XXY 47
XYY = XYY 47
Turners = X 45
39
Q

What are the 2 laws in Mendelian inheritance

A

Law of segregation

Law of independent assortment

40
Q

Describe the inheritance pattern of CF
What chromosome is affected

What advantage do carriers have

A

Autosomal recessive

CFTCR on chromosome 7

Hidden in heterozygous carriers, frequency high if there is a selective advantage

Not sex linked, infrequent

41
Q

Describe the inheritance pattern of HD

What chromosome is affected

A

Autosomal dominant
HD CAG stutter on chromosome 4

Frequent

Not sex linked

42
Q

Describe the inheritance pattern of Hemophilia A

Why does this affect different sexes differently

A

X linked recessive

Affects F7

Males only have 1 X, only 1 recessive allele needed to express HA

Mother => child transmission only

Sons affected more than daughters

43
Q

What are the properties of complex disorders

What are the 2 types of traits that can arise as a result?

A

Polygenic, multifactorial

Traits can be

  • discontinuous
  • continuous
44
Q

How would you assess the genetic and environmental contribution of a polygenic complex disease?

A

More frequent in MZ => genetics

More frequent in DZ => environment

Cellular Genetics and the Cell Cycle (8 decks)

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