Lecture 5 - 7 Human Genome 1 Flashcards

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1
Q

VNTR copy number is largely unique to an individual, especially when assessing copy number for numerous throughout the genome.

A

VNTR loci

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2
Q

The human genome can be divided into three classes of sequences:

single copy, moderately repetitive, and ________ repetitive.

A

Highly

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3
Q

The polymerase chain reaction (PCR) amplifies discreet segments of DNA defined on either side by a _____________. The amplification is done in vitro. The primers can synthesized to represent any desired sequence.

A

Primer

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4
Q

There is an apparent excess of genomic DNA compared with the amount that could be expected to code for __________.

A

Protein Coding Genes

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5
Q

Single copy DNA sequences have no characteristic limit on size, and almost every ________ is single-copy DNA. However, not all single-copy DNA codes for a protein or is part of a gene.

A

Gene

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6
Q

A set of genes descended by duplication and variation from an ancestral gene is called a ________ family.

A

Gene

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7
Q

Supergene families are composed of partially ___________ genes. Sometimes a relationship can be discerned in the form of a common overall organization among genes whose roles apparently are not related. This occurs as the result of extensive variation from a common ancestor.

A

Homologous

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8
Q

Gene clusters are composed of homologous genes encoding proteins with closely related ___________. Gene clusters range from extremes where a duplication has generated two adjacent related genes to cases where hundreds of identical genes lie in a tandem array.

A

Molecular Function/Physical Location

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9
Q

_____________ repetitive DNA sequences, like ribosomal RNA genes and histone genes, meet the need for large amounts of the product encoded by these genes.

A

Moderately

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10
Q

Telomeric repetitive sequences are found at the ________ of the linear DNA molecule in chromosomes.

___________of chromosomes prevent chromosome degradation and fusion.

A

Ends

Telomers

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11
Q

___________ are the point on the DNA where the kinetochore forms.

Kinetochores are the part of the chromosome to which the __________fibers (microtubules) attach.

A

Centromeres

Spindle

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12
Q

The centromeric region of a chromosome is required for proper __________ of chromosomes during __________.

A

Segregation

Mitosis

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13
Q

a useful starting point for accessing a very large amount of human genome project data, including ________________.

A

CPS islands and SNPs

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14
Q

Detailed information regarding genetic changes in cancer can be obtained from the

A

Catalog of Somatic Mutation in Cancer (COSMIC)

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15
Q

A list of patient samples, with associated information regarding the mutations and gene expression for the samples, can be had at the (The cancer genome atlas), which is available through cBioPortal.

A

cancer genome atlas

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16
Q

In general, COSMIC is more user friendly for basic information regarding cancer-related genes and genome changes in cancer, such as or gene-gene fusions

A

copy number variations

17
Q

cBioPortalis usually more useful for , i.e., a lot of the TCGA data has yet to be “mined”.

A

bioinformatics studies