ALU INTRON INSERTIONS • SINEs (short, interspersed elements) that are 300 base pairs long
ALU INTRON INSERTIONS • Green sections
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 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
Random Sample from the United States p = _____ q = _____
Example Electrophoretic Gel for Individuals 2 -8
Random Sample from Elko NV p = _____ q = _____
Frequency of Alu Insertions for Ethnicity
Practice Problems • p 277 • #’s 4, 6, 7, 8, 9, and 13