Biology 2581B Lecture Notes - Lecture 12: Mammalian Genome, Myotonic Dystrophy, Allele-Specific Oligonucleotide

42 views3 pages

Document Summary

Lecture 11: detection of mutations and genetic variations. A locus with two or more alleles where each allele is present in more than 1% of the populations = polymorphic. Alleles of a polymorphic locus are called genetic variations rather than wild-type or mutants. Advanced sequence technologies allows sequencing of complete genomes from individuals. 5,015 cause amino acid changes of expressed proteins. Single nucleotide substitutions in the genomic region for the cystic fibrosis gene. Any location within the genome that has a defined chromosomal location irrespective of function, coding or non-coding, short or long. Single base pair substitution one gene several genes. Allele genetic variation at a specific locus. Simple sequence repeats = ssrs: copy number polymorphisms = cnps, none of the above are complex variants. Snps are base pair substitutions: southern blot analysis of restriction site altering snps, pcr analysis of restriction site altering snps. Size separate restriction digested pcr fragments by gel electrophoresis: using allele specific oligonucleotide hybridization.

Get access

Grade+20% off
$8 USD/m$10 USD/m
Billed $96 USD annually
Grade+
Homework Help
Study Guides
Textbook Solutions
Class Notes
Textbook Notes
Booster Class
40 Verified Answers
Class+
$8 USD/m
Billed $96 USD annually
Class+
Homework Help
Study Guides
Textbook Solutions
Class Notes
Textbook Notes
Booster Class
30 Verified Answers

Related Documents

Related Questions