Mutations And Pedigrees

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Mutation

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any change in DNA (the order of nucleotide bases/letters)

-Can occur in any cell in the body.

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Somatic mutation

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occur in somatic (body) cells and are passed on by mitosis 🡪 cancer

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Germ line mutations

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occur in germ line cells that give rise to gametes and are passed on by meiosis 🡪 mutated offspring

-can be caused by mistakes made during DNA replication, mitosis, meiosis, or protein synthesis

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Mutagens

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agents or chemicals that can cause DNA mutations

(Ex. radiation, UV light, cigarette smoke, Viruses)!

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Gene mutations

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happen during DNA replication and cause a change to the original DNA sequence

(Ex. Cystic Fibrosis, Dwarfism, and Sickle Cell Anemia)

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Chromosome mutations

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often happen during meiosis, changing the number or location of genes

(Ex. Down Syndrome, Klinefelter’s Syndrome, Turner’s Syndrome)

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Point mutations (gene mutations)

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substitute ONE nucleotide for another

(Ex. Sickle cell anemia is caused by GAG 🡪 GUG)

(Often caused by replication errors or environmental mutagens)

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frameshift mutations (gene mutations)

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the insertion or deletion of a nucleotide

(Ex. ATTACC 🡪 ATACC (deletion))

(Ex. ATTACC 🡪 ACTTACC (insertion)

These will affect all the codons that come after the insertion or deletion.

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duplication (chromosome mutation)

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changes the size of chromosomes and results in multiple copies of a single gene.

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translocation (chromosome mutation)

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pieces of non-homologous chromosomes exchange segments (during crossing over).

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nondisjunction (chromosome mutation)

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Chromosomes do not separate correctly during anaphase, resulting in 1 or 3 chromosomes rather than 2 per cell.

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Pedigree

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chart used to trace the phenotypes and genotypes in a family to determine whether people carry diseases or traits.

-Male (square)

-Female (circle)

recessive trait is that if a trait skips a generation in a pedigree, it is often an autosomal recessive trait (although a trait can be autosomal recessive and not skip generations).

If the individual is “affected" by the trait (dominant or recessive) we darken the shape. A line between a male and a female indicates a marriage or union.