mutations Flashcards

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1
Q

what are somatic cells?

A

normal body cells.

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2
Q

what are germline cells?

A

sex cells.

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3
Q

what is a point mutation?

A

a mutation that occurs at a single gene locus or a single base substitution- deletion or insertion

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4
Q

what is a chromosomal mutation?

A

a segment mutation which occurs over multiple genes.

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5
Q

what is deletion?

A

when a portion of a base sequence vanishes or is destroyed.

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6
Q

what is duplication?

A

a part of the base sequence is multiplied and more than one copy of it exists post duplication.

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7
Q

what is inversion?

A

a portion of chromosome is reversed/flipped. The base pairs that make it up are disordered as a result. Pericentric- includes the centromere in the inversion, paracentric do not.

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8
Q

what is translocation

A

sections of the chromosome are simply places elsewhere in the chromosome.

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9
Q

what is a spontaneous mutation?

A

one that occurs during the replication of DNA.

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10
Q

what is an induced mutation?

A

one caused by a mutagen.

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11
Q

what is proofreading?

A

when polymerase disconnects incorrect bases and reattaches correct ones.

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12
Q

what is a mismatch repair?

A

what a section of incorrect DNA is replaced.

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13
Q

what is an excision repair?

A

a constant process of snipping dead or incorrect DNA.

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14
Q

what is preimplantation genetic diagnosis?

A

when an embryo is tested before it goes into the surrogate mother.

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15
Q

what is amniotic fluid testing?

A

when the fluid around an embryo I stetted for genetic diseases.

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16
Q

what is restriction fragment length polymerase?

A

the sequencing of DNA using electrophoresis.

17
Q

what is gene therapy?

A

when a healthy gene is cultured and reinserted into the patients body.