Chapter 4 Flashcards

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1
Q

Monogenic Disorder

A

Genetic disorders that are caused by mutation(s) of a single gene

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2
Q

Recombinant DNA techniques

A

The process of combining DNA from 2 or more sources; enzymes to cut DNA in specific places

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3
Q

Position-independant

A

describes the identification of a human disease gene through knowledge of its protein product

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4
Q

Positional Cloning

A

The mapping of a disease gene through its location in the human genome, without prior knowledge of its function

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5
Q

Functional cloning

A

Describes the identification of a human disease gene through knowledge of its protein product

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6
Q

Animal model

A

Allowed phenotypic traits in animals that appear in humans to be used to help identify genes in humans

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7
Q

Trinucleotide Repeat Disorder

A

A number of human diseases are caused by the expansion of trinucleotide repeats

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8
Q

Linkage analysis

A

Analyzing linkages to figure the position of a specific gene

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9
Q

Somatic Hybrid Panel

A

A technique involving the fusion of cells from two different species that result in the loss of chromosomes from one of the cell types and is used in assigning genes to particular chromosomes

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10
Q

Candidate Genes

A

A gene whose function or location suggests that it is likely to be responsible far a particular genetic disease or disorder

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11
Q

Human Genome Project

A

A major international collaborative effort to map and sequence the entire human genome

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12
Q

Gene map

A

used to determine the linear order of linked genes along the same chromosome

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13
Q

Linkage map

A

Allows scientists to find the approximate location for the disease causing gene

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14
Q

Restriction enzyme

A

An enzyme (a protein-endonuclease) that has the property to cut DNA at or near specific recognition nucleotide sequence (restriction site)

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15
Q

DNA Probe

A

A DNA sequence that is labeled, usually radioactively or fluorescently, and used to identify a gene ore DNA sequence

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16
Q

Southern Blotting

A

Technique for transferring DNA fragments from an agarose gel to a nitrocellulose filter on which they can be hybridized to a radiolabeled single-stranded complementary DNA sequence or probe

17
Q

Polymorphism

A

The occurrence in a population of two or more genetically determined forms in such frequencies that the rarest of them could not be maintained by mutation alone