Chromosomal mutations Flashcards Preview

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Flashcards in Chromosomal mutations Deck (8)
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1

testing for chromosomal changes

diagnose & pinpoint mutations in cancer specimen & in genetic diseases

2

Mutation

permanent change in the genetic material usually in a single gene
found in less than 1% of population
does not always result in a phenotypic change
p53 mutation in cancer specimens

3

polymorphism

two or more genetically determined phenotypes in the same population
>1% of population
ABO blood type

4

Genomic mutation

abnormal chromosome number
aneuploidy

5

chromosmal mutation

abnormal chromosome structure
deletions, amplifications, rearrangements

6

gene mutation

DNA sequence changes in specific genes
point mutations
deletions/insertions

7

monosomy

one less chromosome = 45
rare & usually lethal
monosomy X = turner's syndrome when baby has only 1 x chromosome

8

Polysomy

extra chromosome =47 +
trisomy 21 = down's syndrome
common in cancer cells