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Biology 1010 > Genetic Lecture 3 > Flashcards

Genetic Lecture 3 Flashcards

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AP® Biology flashcards Biology 101 flashcards
1
Q

Multiple Alleles

A

Where you have many possible alleles on your two homologues chromosomes for the same gene.

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2
Q

ABO blood group is an example of what?

A

Multiple allele system with co-dominance.

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3
Q

What does the ABO system mean?

A

When we say A, B, O, or AB

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4
Q

How many alleles are in the ABO system?

A

3, and 2 of them can be co-dominant.

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5
Q

Rhesus Factor

A

the - or + on the blood type

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6
Q

Which blood type is an example of co-dominance?

A

AB, both carbs are shown at the same time.

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7
Q

What does the alleles produce?

A

Each one is responsible for producing an enzyme that’s responsible for the position of the carbs that’s either a A carb, B carb, or no carb.

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8
Q

The product of the ABO gene is?

A

Histo-blood group ABO system transferase. It’s a transferase because it’s a enzyme involved in transferring something that will designate the blood group.

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9
Q

The A allele produces what?

A

Enzyme A-transferase
which catalyzes the transfer of GalNAc residues

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10
Q

The B allele produces what?

A

The enzyme B-transferase,
which catalyzes the transfer of galactose residues

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11
Q

The I allele has what?

A

Lacks both enzymatic activities

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12
Q

How many differences are in the A and B allele?

A

Only 4 amino acid difference between the two isoforms of that enzyme.

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13
Q

Gloylated

A

When sugars are attached to the proteins, like on the red blood cell.

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14
Q

All blood proteins have what?

A

The 4 sugar parts.

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15
Q

Co-dominance

A

Where two different versions (alleles) of a gene are expressed equally to produce different traits in an individual.

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16
Q

Why can A receive blood from B or AB?

A

Because it produces antibodies that counter the foreign antigen. When the carb isn’t present we are going to produce antibodies against it.

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17
Q

What antibodies does A have?

A

Anti-B

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18
Q

What antibodies does B have?

A

Anti-A

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19
Q

What antibodies does AB have?

A

None

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20
Q

What antibodies does O have?

A

Anti-A and Anti-B

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21
Q

Lethal Alleles

A

An allele that can kill you. They can be domanint or recessive.

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22
Q

What’s the ratio for heterozygous with a lethal allele?

A

2:1, because the homozygous for the lethal allele will never produce a viable offspring. They are dead before they are born.

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23
Q

Example of lethal alleles?

A

Manx cats and creeper chickens

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24
Q

How can a karyotype be produced?

A

By putting the chromosomes on a glass slide and taking a photo of it under a microscope.

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25
Q

Karyotype

A

A display of homologous chromosomes of a cell arranged by
size and type. The pairs have the same banding pattern.

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26
Q

Giemsa Stain

A

Giemsa stain is just a nucleic acid stain that attaches preferentially to adenine-thymine (A-T) bonds. It’s not a gene, there are way more genes on a chromosome than there are Giemsa stain bands.

27
Q

Autosomes

A

22 pairs of homologous chromosomes exactly the
same in both male and female karyotypes.

28
Q

Classification of Genetic Disorders

A

Multifactorial, Chromosomal, Single gene

29
Q

Multifactorial Disorders Examples?

A

Cancers, Congenital Malformations, and Coronary Artery Disease.

30
Q

Congenital Malformations

A

At birth. Cleft lip, heart defects, neural tube defects. Varies but generally 1/250-600 with ethnic variation, depends on different populations and economic status.

31
Q

Cancers

A

Some forms; multiple causes, including genetic predisposition.
>1/3 (exclusive of skin cancer). If some in your family has the breast cancer allele it’s important to get tested often to see if you have it.

32
Q

Coronary Artery Disease

A

Multiple causes, including genetic predisposition. Varies but up to 1/15 in Western populations.

33
Q

Chromosome or Cytogenetic Disorders, Examples?

A

Down Syndrome and XXY syndrome.

34
Q

Down Syndrome

A

Trisomy 21 about 1/800 have it. It depends a lot on the age the mother has a child.

35
Q

XXY Syndrom

A

Extra Y in ~1/1000 males.

36
Q

Nondisjunction

A

When the chromosomes are incorrectly pulled in meiosis I or II. So there is an incorrect number of chromosomes in the gametes.

37
Q

Nondisjunction at Meiosis I results in?

A

All of the gametes being abnormal (two with three chromosomes) and (two with one chromosome).

38
Q

Nondisjunction at Meiosis II results in?

A

50% of the gametes being abnormal (one with one chromosome) and (one with three chromosomes).

39
Q

Why is trisomy 21 more common than trisomy 18?

A

Because they are more likely to stay alive because there is less genes on chromosome 21.

40
Q

Nondisjunction gives rise to what?

A

Monosomics and trisomics

41
Q

Monosomics

A

Lack a single copy of a chromosome. They are usually lethal.

42
Q

Trisomics

A

Carry an additional copy of a chromosome.

43
Q

Turner’s syndome

A

When the female only has one X. Short stature and immature sex organs. Sterile.

44
Q

XXX Syndrome

A

When the female has three X. Associated with learning
difficulties. Fertile.

45
Q

Klinefelter Syndrome

A

When the male has an extra X. Male with female body characteristics. Sterile.

46
Q

Is having just the Y chromosome viable?

A
47
Q

XYY Syndrome

A

Associated with learning
difficulties. Large and tall. Fertile. It’s nondisjuction in the male.

48
Q

Single Gene Disorders

A

Caused by a mutant gene allele.
The mutant allele may be present on only one chromosome of an homologous pair (dominant) or on
both chromosomes (recessive) to exhibit the disease. Usually obvious pattern of inheritance in a pedigree.
Most defects are rare.

49
Q

Single Gene Disorders Examples?

A

Cystic Fibrosis, Huntington’s disease, Duchenne Muscular Dystrophy, and Sickle Cell Anemia.

50
Q

Cystic Fibrosis

A

Common autosomal recessive
disease. Incidence: ~1/2000 in some
Caucasian populations. Very rare in Asians

51
Q

Huntington’s disease

A

Autosomal dominant, late onset.
Incidence: variable 3/100000. Much higher in some small isolated
populations.

52
Q

Duchenne Muscular Dystrophy

A

Common X-linked recessive
disorder. Incidence: ~1/3000-3500 males. Rare in females.

53
Q

Sickle Cell Anemia

A

Autosomal recessive. Incidence: common in equatorial Africa.
~1/400 African Americans affected.

54
Q

Pedigree

A

Gives you a representation of the family tree regarding that specific gene. How the disease is transmitted from one generation to the next. Can make inferences on where the gene is going.

55
Q

Three Questions A Clinical Geneticist Asks are?

A

Is the genetic disorder: 1. Autosomal or sex-linked? 2. A dominant or recessive trait? 3. Caused by a single gene, or more than one gene?

56
Q

Pedigree Symbols for male and female?

A

Male is a square, female is a circle, and sex unspecified is a diamond.

57
Q

Pedigree Symbols for the trait?

A

Full colour is affected, and half coloured is heterozygous for the autosomal trait.

58
Q

Pedigree Symbols for marriage?

A

Marriage is a straight line, extramarital mating is a dotted line, divorce is a line with dash on it, consanguineous mating is a double line.

59
Q

Pedigree Symbols for identical twins?

A

A triangle between the shape.

60
Q

Albinism

A

Don’t produce a lot of melanin. It’s automosomal, recessive, and single gene.

61
Q

How to tell if it’s sex-linked or autosomal?

A

If sex-linked will be seen predominantly in males.

62
Q

How to tell if it’s dominant or recessive?

A

If dominant, every child with the disease will have a parent with the disease.

63
Q

How to tell if it’s determined by a single gene?

A

If a single gene, then child with the disease born to heterozygous parents should occur in
families at a frequency of ~25%

64
Q

Color Blindness

A

Sex-linked, recessive, single gene.

Biology 1010 (9 decks)

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