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Genetics and Disease > Genetics and Disease Midterm 1 > Flashcards

Genetics and Disease Midterm 1 Flashcards

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Biology 101 flashcards
1
Q

Inheritance pattern and gene affected in hypercholesterolemia?

A

Autosomal dominant and mutations on LDLR gene

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2
Q

What does LDL-R do?

A

Binds ApoB 100 to LDL to allow it to transport through the blood stream

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3
Q

For alzheimer, what is the location for APP and PSEN 1?

A

APP- 21q11, PSEN1 14q24.2

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4
Q

What type of inheritance is alzheimers?

A

Autosomal dominant

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5
Q

What is the problem with Tay-Sachs

A

There is a deficiency of Hexoaminidase A that leads to accumulation of gangliosides in the central nervous system

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6
Q

Tay-Sachs is biochemically considered to be _

A

Incomplete dominance

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7
Q

How is hemophilia inherited?

A

X-linked recessive

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8
Q

How is fragile x syndrome inherited?

A

X-linked dominant

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9
Q

What gene has the mutation with fragile x?

A

FMR-1 gene is mutated

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10
Q

How do you inherit cycstic fibrosis?

A

Autosomal Recessive

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11
Q

What gene has the mutation for cystic fibrosis? And what does that cause?

A

CFTR gene, causes water accumulation because Cl cant move

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12
Q

What is the deletion for cystic fibrosis?

A

Delta F 508, deletion of phenylalanine

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13
Q

What is special about a compound heterozygote?

A

More severe than a heterozygote, less severe than a homozygote recessive

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14
Q

Which strand synthesizes okazaki fragments?

A

In the lagging strand

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15
Q

What are the 3 phases of DNA replication?

A

Initiation, elongation, termination

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16
Q

What happens in initiation?

A

Proteins bind to DNA, open the double helix and prepare DNA

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17
Q

What happens in elongation?

A

Proteins connect the sequence of nucleotides into a continuous strand of DNA

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18
Q

What happens in termination?

A

Proteins release from the replication complex

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19
Q

Topoisomerase:

A

Prevents torsion/breaks

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20
Q

Helicase:

A

Separates 2 strands of DNA

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21
Q

Primase:

A

Synthesizes RNA primers

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22
Q

Single strand binding proteins:

A

Prevents reannealing of single strands

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23
Q

DNA ligase:

A

Seals nicks in DNA

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24
Q

DNA pol:

A

Synthesizes DNA, also functions as exonuclease in eukaryotes

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25
Q

What is telomerase and what cells have it?

A

Telomerase restores telomere length to avoid loss of DNA at the end where the RNA primer was, only present in stem cells and cancer cells

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26
Q

What are the short RNA sequences that DNA pol needs to function?

A

RNA primers

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27
Q

What are the 3 types of DNA?

A

Nuclear DNA - coding, Extragenic/junk DNA - noncoding, Mitochondrial DNA - rRNAs and tRNAs

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28
Q

What are single copy genes?

A

most genes like CFTR, insulin, growth horomone

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29
Q

What are multi gene families?

A

Arose through duplication of one gene

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30
Q

Classic gene families:

A

overlapping functions

31
Q

Gene superfamilies:

A

non overlapping functions

32
Q

What is a cluster of genes called and what chromosomes are they on?

A

globin or globin chain found on chromosomes 11 and 16

33
Q

what causes a globin?

A

duplication and mutation

34
Q

What are microsatelites?

A

2-4 bp 10-30 repeats, rarely on coding genes and can cause disease

35
Q

What are minisatellites?

A

6-100 bp up to 1k repeats, telomeres

36
Q

What are satellites?

A

several hundred bp, clustered around centromeres

37
Q

What are tandem repeats? Length and what affects them?

A

Short-medium length sequences repeated in tandem. Affected by error during replication

38
Q

What is a TE or transposon?

A

A DNA sequence that can change its position within a genome

39
Q

How much of the genome are Transposable elements?

A

one third of the genome

40
Q

Who discovered transposable elements?

A

Barbara mclintock and earned nobel prize in 1983

41
Q

What are the two main types of transposable elements?

A

DNA transposons and retrotransposons - from RNA and use reverse transcriptase

42
Q

What are SINEs and what kind of transposons are they?

A

Short interspersed Nuclear elements that are Alu sequences ~300bp retrotransposons

43
Q

What is an SNP?

A

Single nucleotide polymorphism
replacing, deleting or adding a nucleotide base

44
Q

What is a synonymous mutation?

A

Codon is changed but the amino acid is the same

45
Q

When is a missense mutation conservative and nonconservative?

A

Conservative if replaced with a similar AA nonconservative if replaced with a different AA

46
Q

What is a nonsense mutation?

A

Introduces a premature stop codon - truncated protein

47
Q

What does SNP splice site result in

A

Results in intron retention or exon skipping

48
Q

How many base pairs are indels usually?

A

1-3 bp

49
Q

What can indels cause?

A

frameshift, like Phe deletion

50
Q

What is the result when DNA pol slippage forms a loop in template? In new DNA?

A

Template - DNA deletion, new DNA - DNA insertion

51
Q

What diseases can Alu cause?

A

Insertion, coag factor IX deficiency, recombination- familial hypercholesterolemeia

52
Q

Structural polymorphisms?

A

Duplication, inversion, ind/el, translocation

53
Q

What are the 3 kinds of Loss of Function mutations?

A

Reduced activity, loss of protein, haploisufficiency

54
Q

How is loss of protein inherited? What does it mean?

A

Recessive. The presence of 1 functional copy = healthy

55
Q

What is haploinsufficiency? How is it inherited?

A

One copy is not enough to be healthy. Dominant inheritance

56
Q

What is a gain of function mutation? How is it inherited?

A

Increased gene expression or new function. Often dominantly inherited

57
Q

What is a Dominant-Negative mutation?

A

Heterozygote has loss of function as a mutation and interferes with the function of a normal gene product.

58
Q

What causes Chronic Myeloid Leukemia?

A

Reciprocal translocation from chromosome 22 to 9 - philadelphia chromosome

59
Q

What is Robertsonian translocation?

A

2 acrocentric chromosomes break and the q arms join.

60
Q

What issues does robertsonian translocation cause?

A

It causes issues at meiosis. Monosomies or down syndrome

61
Q

What is a gene?

A

The biological unit of heredity

62
Q

Alleles:

A

alternate forms of a particular gene.

63
Q

What is a trait? Example?

A

A variation of a character. Eye color is character and blue eyes are the trait

64
Q

What is a locus?

A

the location on a gene/chromosome

65
Q

What is a haplotype block?

A

Segments of DNA that do not undergo recombination.

66
Q

What is a hotspot?

A

Segements of DNA that are prone to recombination and allow the shuffling of haplotype blocks

67
Q

What is a haplotype?

A

A set of alles of different genes that are closely linked on one chromosome and are usually inherited as a unit.

68
Q

How is Duchene Muscular Dystrophy inherited?

A

X-linked recessive

69
Q

Where is the dystrophy gene for DMD?

A

Xp21

70
Q

Gower’s sign is related to ?

A

DMD

71
Q

Acrocentric

A

No coding genes on little arms

72
Q

Submetacentric

A

Centromere is almost in the middle

73
Q

Metacentric

A

Centromere is in the middle can you can distinguish p and q arms

Genetics and Disease (3 decks)

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