Lecture 12 Flashcards

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1
Q

Are hairy ears Y linked

A

No

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2
Q

Hemophilia A is a defect in

A

Clotting factor VIII

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3
Q

Hemophilia B is a defect in

A

Clotting factor IX

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4
Q

Hemophilia A and B are ____ disorders

A

X linked recessive

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5
Q

Hemophilia C is caused by defect in

A

Clotting factor XI

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6
Q

Which chromosome is hemophilia C found

A

Chromosome 4
Autosomal recessive

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7
Q

In X-linked diseases, mostly ____ are affected

A

Males

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8
Q

Why are Y linked genes not common

A

Y chromosome is smaller than X with fewer genes

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9
Q

Pseudoautosomal inheritance

A

Very few genes found on both X and Y chromosomes

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10
Q

Psuedoautosomal inheritance is found on what regions

A

Homologous

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11
Q

Polymorphisms

A

Common variations in DNA

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12
Q

Molecular marker

A

DNA variation that is found at a specific site in a genome

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13
Q

Examples of molecular markers

A

SNPs - single nucleotide morphonisms
SSLP - Simple sequence length polymorphisms
Microsatellite (short tandem repeats)

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14
Q

What does it mean if the markers are always inherited with the mutant phenotype

A

It means the molecular marker and gene is linked

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15
Q

All RFLPs (Restriction fragment length polymorphism) are

A

SNPs

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16
Q

No all SNPs are

A

RFLPs

17
Q

Southern blotting

A

Finding specific nucleic acids using DNA hybridization

18
Q

Probe

A

Small piece of DNA which has a sequence that is complementary to a sequence

19
Q

Heterozygous have how many bands

A

3

20
Q

Smaller DNA fragments move

A

Farther/faster

21
Q

MIcrosatellites

A

Short, repetitive sequences

22
Q

SNP can have how many alleles

A

4

22
Q

Amplified region in a microsattelite is called

A

Sequence tagged site

23
Q

Diploid cells have how many copies of STS

A

2

24
Q

If both homologous chromosomes carry the same number of repeats there is a

A

Single band on gel

25
Q

If 2 homologs each carry different number of repeats its

A

Two bands on gel

26
Q

Haplotype

A

Linkage of multiple different alleles on a single stretch of chromosome

27
Q

Crossing over is unlikely between

A

Closely linked loci

28
Q

The closer a molecular marker is to a disease gene, the greater the

A

Association and linkage

29
Q

Alleles are _____ NOT ______

A

Short tandem repeats, NOT SNPs (single nucleotide morphism)

30
Q

Amelogenin

A

Protein involved in the development of enamel
located on X and Y chromosome

31
Q
A