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23 Cards in this Set

  • Front
  • Back

Trisomy


nondisjunction where there is more then one chromosome

Monosomy

nondisjunction where there is less then two chromosome

2n+1

Trisomy Formula

2n-1

Monosomy Formula

Aneuploid

Abnormal Chromosome Number

Anaphase I Disjunction

All gametes from that line will be aneuploid

Anaphase II

Half of the gametes from that line will be aneuploid

Karyotype


A method of organizing the chromosomes in a cell in relation to size, number and types.

Karyotyping

Often done when a mother is pregnant

Chrionic Villi Sampling

Removes a small sample of the placenta, usually done in the first 10 to 12 weeks of pregnancy

Amniocentesis

Removes small sample of Amniotic Fluid, usually done in the first 18 weeks of pregnancy

Deletions

Occurs when the fragment is lost during cell division

Duplications

when the fragment is repeated

Inversions

when the fragment is reattached in the reverse orientation

Translocation

when the fragment is added to a non- homologous

Silent Mutations

the altered codon codes for the same amino acid

Missense Mutation

the altered codon codes for a different amino acid

Nonsense Mutation

the altered codon codes for a stop codon

Base-Pair Substitution

the replacement of one nucleotide and it's partner in the complementary DNA strand with another pair of nucleotides

Insertion

an addition of one or more nucleotide bases

Deletion

a loss of one or more nucleotide bases

Mutagen

Chemical or Physical agent that interacts with DNA to cause a mutation.

The Ames Test

commonly used mutagen test, deciphers mutants from non-mutants