Genetic testing- analysis of the DNA to observe genesResults can lead to pre symptomatic treatmentsHypertrophic cardiomyopathy- Genetic tests available for that - Genetic test for Huntington’s disease( get extra repeats)- can confirm the diagnosis=- The DNA sequences with other people are largely identical- any nucleotides - Genetic variation can change proteins which lead to changes in genotypes- A and T are two different variants. - Variant 1- hemoglobin gene a- no sickle cell anemia, not resistant to malaria- Variant 2- t- sickle cell anemia- resistant- 3 major types of genetic variations- SNP- change in one DNA nucleotide - Insertion- insertion of one or more DNA nucleotide in a genome - Deletion- deletion of one or more DNA nucleotides=PCR- amplify a short sketch of dna, 1st make copies, heated-denature, decreased, bind polymers, copied, higher temp.. add nucleotides to extend, make additional copies, after 3 cycles, target sequence accumulates, primer binds right outside of the sequence Gel electrophoresis- dna molecules divided by the size and chargeInsertions and deletions detected by pcr Single nucleotide polymformasim – Relp analysis- restriction enzymes( recognizes sequence) cut dna, run it on the gel…two pieces of shorterdna . ex: sickle cell homeglobin- longer for restriction enxymes to cut Snps and insertionas/deletions can be identified by “conventional” Dna sequencing ( very expensive) 10/2/13Genome sequencing- make copies then reassemble it, the price has fallen too, advantages- can tell heriderity genesPcr and electropgerisis- deletionsRelp- a single nucleotide10/9/13Domainat or recessive- use family pedigrees…homo ( both alleles r the same) hetro ( genes are different)Sex- linked disourders- more males or females are affectedy-linked- all the mens r affected, fathers will pass it to all of their
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