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BMS 460 > Lesson #2 > Flashcards

Lesson #2 Flashcards

1
Q

23rd pair of chromosomes:

A

Sex chromosomes.

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2
Q

1st-22nd chromosomes:

A

Autosomes.

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3
Q

Meiosis:

A

Sexual reproduction, produces 4 haploid gametes (Sperm or eggs) - These are genetically unique due to crossing over and independent assortment.

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4
Q

Mitosis:

A

Produces genetically identical, diploid, cells.

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5
Q

Genotype:

A

Genetic coding for a specific trait.

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6
Q

Gene nomenclature in mice and rats:

A

Gene symbol - Sox2 (in italics)
Protein designation - SOX2

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7
Q

Gene nomenclature in humans, primates, and domestic species:

A

Gene symbol - SOX2 (in italics)
Protein designation - SOX2 (not in italics)

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8
Q

The short arm of chromosome:

A

P arm.

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9
Q

The long arm of chromosome:

A

Q arm.

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10
Q

Polygenic traits:

A

multiple genes located on more than one chromosome contributing to 1 trait - eye color/skin tone.

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11
Q

The additive effects of many abnormal genes and environmental factors, that will be passed down in families?

A

Multifactorial events.

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12
Q

Examples of multifactorial events:

A

Obesity, hypertension, atherosclerosis, and diabetes.

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13
Q

What can occur from a single gene or a chromosomal defect?

A

Genetic disorders.

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14
Q

This may occur spontaneously or due to toxic substances - such as radiation, chemicals, etc.

A

Genetic mutations.

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15
Q

True or false - Single gene mutations in both autosomes and sex chromosomes are spread to offspring?

A

FALSE - single gene mutations are passed down in sex chromosomes, but not in autosomes.

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16
Q

Mendelian traits are caused by:

A

Inheritance of defective alleles - either 1 (dominant) or 2 (recessive) alleles.

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17
Q

True or false - X-linked dominant and recessive genes are examples of non-mendelian inheritance.

A

True!

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18
Q

_______ ________ ________ normally affect structural proteins and receptors.

A

Autosomal dominant mutations.

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19
Q

_________ ________ _________ normally cause defective enzymes.

A

Autosomal recessive mutations.

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20
Q

True or false - Sex-linked recessive genes are most commonly expressed in men because they only have one X and do not need two alleles.

A

True!

21
Q

The process that inactivates one X chromosome in women, for gene dosage compensation, is called:

A

X-Inactivation.

22
Q

When does X-Inactivation occur? What pattern does it follow?

A

X-Inactivation occurs in the early blastocyst stage, and will replicate that X gene via mitosis to create a mosaic pattern.

23
Q

What amount of genes will escape X-Inactivation?

A

1/4 of genes on an inactive X will escape.

24
Q

What syndrome is due to an overdose of escaped genes in X-inactivation? What sex chromosomes would it have?

A
  1. Klinefelter syndrome.
  2. XXY
25
Q

What syndrome is due to a lack of escaped genes in X-Inactivation? What sex chromosomes would it have?

A
  1. Turner syndrome.
  2. X.
26
Q

___-______________ is due to an unequal separation of chromosomes in meiosis 1, giving either 22 or 24 chromosomes in gametes.

A

Non-disjunction, a chromosomal abnormality.

27
Q

Non-disjunction will occur when?

A

During mitotic divisions in early embryonic phase - causing mosaicism.

28
Q

What is the name for an interchange of chromosome parts between 2 or more non-homologous chromosomes?

A

Translocation, a chromosomal abnormality.

29
Q

The 2 types of translocation - Describe them:

A
  1. Reciprocal - Some chromosomes will receive extra copies, while others will receive fewer copies than normal. No chromosome parts are lost.
  2. Non-reciprocal - also called robertsonian translocations. When the long arms of a chromosome become bound to a common centromere, and the short arms of the chromosome are lost.
30
Q

Chromosomes for klinefelters syndrome?

A

XXY

31
Q

Chromosomes for turner’s syndrome?

A

X

32
Q

Lethal chromosomes?

A

Y

33
Q

Down syndrome chromosomes:

A

47 chromosomes, trisomy 21.

34
Q

Patau syndrome chromosomes:

A

47 chromosomes, trisomy 13.

35
Q

Edwards syndrome chromosomes:

A

47 chromosomes, trisomy 18.

36
Q

Which two trisomies are due to robertsonian translocations?

A

Trisomy 21 and trisomy 13 (downs and patau)

37
Q

True or false? 60-70% of spontaneous abortions in the first trimester are due to some form of trisomy?

A

FALSE - Only 40-50% of spontaneous abortion in the first trimester is due to trisomy.

38
Q

What products do we get from non-disjunction in meiosis 1?

A

2 diploid gametes and 2 gametes with no chromosomes - All 4 SHOULD be haploid.

39
Q

What products do we get from non-disjunction in meiosis 2?

A

2 normal haploid gametes, 1 diploid gamete, and one gamete with no chromosomes - All 4 SHOULD be haploid.

40
Q

__________ __________ is caused by a balanced chromosomal translocation of the telomeric portion of chromosome 22Q and chromosome 9Q, and vice versa.

A

Philidelphia chromosome.

41
Q

True or false - The translocated fragment on a Philadelphia chromosome is non-functional.

A

FALSE - The translocated fragment of a Philidelphia chromosome IS functional.

42
Q

What type of translocation disorder occurs when the mother of the affected child has 45 chromosomes, where the long arms of chromosomes 21 and 14 translocate?

A

Translocation down syndrome - an example of a robertsonian translocation.

43
Q

What does the philidelphia chromosome produce?

A

Philidelphia chromosome produces a strong tyrosine kinase that causes malignant transformation. BAD!

44
Q

Mitochondria:

A
  1. Arise by division of pre-exisiting mitochondria.
  2. Has it’s own it’s own genetic machinary.
  3. Has some functional mDNA proteins, but mostly utilizes nDNA.
45
Q

True or false: Homoplasmy is where mitochondria are inherited in a mixture of normal and mutant.

A

FALSE - Homoplamsy is when mitochondria are inherited either entirely mutant or entirely normal.

46
Q

____________ is when daughter cells receive a mixture of mutant and normal mitochondria.

A

Heteroplasmy.

47
Q

_______ pass down mitochondrial DNA, but ________ offspring are affected

A

Female, all.

48
Q

If a cardiac glycoside does not become resolved, it can cause damage to the mitochondria - this is called:

A

Calcium overload:

BMS 460 (10 decks)

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