Human Population Genetics ALU REPEATS Protein Synthesis ALU

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Human Population Genetics ALU REPEATS

Human Population Genetics ALU REPEATS

Protein Synthesis

Protein Synthesis

ALU INTRON INSERTIONS • SINEs (short, interspersed elements) that are 300 base pairs long

ALU INTRON INSERTIONS • SINEs (short, interspersed elements) that are 300 base pairs long

ALU INTRON INSERTIONS • Green sections

ALU INTRON INSERTIONS • Green sections

Importance to Geneticists • Most common transposable elements in your genome. ~ 1 million

Importance to Geneticists • Most common transposable elements in your genome. ~ 1 million • If present within introns of genes associated with particular pathologies, they can thereby be associated with that disease. The following human diseases have been linked with Alu insertions: – Breast cancer – Ewing's sarcoma – Familial hypercholesterolemia – Hemophilia – Neurofibromatosis – Diabetes mellitus type II

Importance to Geneticists • And the following diseases have been associated with single-nucleotide DNA

Importance to Geneticists • And the following diseases have been associated with single-nucleotide DNA variations in Alu elements impacting transcription levels: – Alzheimer's disease – Lung cancer – Gastric cancer • used to estimate relatedness among individuals. • used to estimate the frequency of an insert in a population and is a simple measure of molecular genetic variation.

Genetics of ALUs

Genetics of ALUs

Random Sample from the United States p = _____ q = _____

Random Sample from the United States p = _____ q = _____

Example Electrophoretic Gel for Individuals 2 -8

Example Electrophoretic Gel for Individuals 2 -8

Random Sample from Elko NV p = _____ q = _____

Random Sample from Elko NV p = _____ q = _____

Frequency of Alu Insertions for Ethnicity

Frequency of Alu Insertions for Ethnicity

Practice Problems • p 277 • #’s 4, 6, 7, 8, 9, and 13

Practice Problems • p 277 • #’s 4, 6, 7, 8, 9, and 13