intended learning outcomes of lecture 18 at the end of this lecture you should be able to recognize the fundamental importance of pcr in the diagnosis of genetic disease lo ...
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...Intended learning outcomes of lecture at the end this you should be able to recognize fundamental importance pcr in diagnosis genetic disease lo provide an overview different tests available for detection mutations genes most human are single base substitutions that cause amino acid hence problem is detect a change background million bases dna genome entire has been cloned and sequenced many clinical interest precise alterations have characterized common example all cases sickle cell anaemia caused by exactly same t mutation it possible design test using allele specific probes see below can distinguish between two alleles hybridisation experiment based diagnoses rely on amplification being tested starting with very small amount segment around amplified allow detecting could follow from instance information regarding loss or gain restriction enzyme site product e g mstii size bp deletion f cf presence absence sequence known causing also developed one primer not shown left used conjuncti...