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Fionasty, Festingy Usteg POR * Autosomal wecessive Szeter » cused Al amgtation in CFTR. gene (Cystic eteeae “rans crembrane” Beaute’) F rrr poovide and. reguieks 2 ‘oGttonidt. Lasnel Ferooge etitielld meminarnes, — Mist common tiation is AFEOB , & tree base deletion Hitt results Wn loss of amino acid Hesalantne -F (Aas) at podtion SOB i te CE peviein | 7 : . e PCR san lee used fo detect Remon peor rowmel , Denes gov abbeotel and Lloro gous camniens * d We feck Yo beced on 1 fact HEY He FOR Prado from te mutant Bene ip hee bas Senter teh dre Product from normal gene Wis capedific. tek work omy for AF De » het bor oti OF -adlections, © Reimer by) Gel eclePoreits & FoR Treducts V se adler urged Sem IE Sam a. Cote | mmr = wo Ww as AYSOS espera ns) A¥506 | 0 free base dslelion * 7 ea -_|4. vad peimen dime formation: “Dimerahion beds to oneqeibie. sanitation . Q07 kelyia © © Advaskage. oh- muVfiples FoR . 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SMX pen te = wdespresh molecular Lolegy fefiniqpe er sinubiantous ammibeotion os multiple target deqpence ino ‘single veachon vessel by vig mule primer Flos fo he reaction mixture . 1) Way hing desaribed by CBamberlain in 1988 ; “e Tyres 3 Ls Single “TWinplofe POR Reaclion + , Thy teRrigne uses a siege template RE can bea genome Dna stony AR evens Pains ob koaarl g reverse primers to ampily specific. regions» within a template . f R Mulfiple. femplate PER Reselion : : Rin tetaniqpe uses mulfine templates 2 several priins ob yrimens in same erclion tube , Tresente ot mulfipie template leod +0 Fr erin and presence of matic primer gir increase We Toribilly o- - ances perdiaction wilh eh offer. # Noomel FOR Josvgex/Mooop ex PER — Binge femplahe + single Primer S Doplee PCR — Ampvificction ob ceyurate regions of single te gene, ‘or 430 diferent seqyence 7 using +00 primer pair, * Wiles eR — 3 region ob clngle gone/ 5 seqyence + 2 Timer pain, © Qvadrupex HR — 4 gene + 4 -primen pain | BD Feber design parameters foo Mublides TR: Ax Primer . 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With defective gene, Bavre t Nop is e Arse AsO oO One. wound wR GETR gene anh ater oO a2 ee Figure: potigees ge Seficdions — + Mjeloprolifenative Neoplasms (Mens) : Genetic allertten eacvrs it 4 Tematoprielic. peegeniten eel ledtag- to ils provferation —> increased WBl PECs ateleds . * ek ‘ Feneersictia progenitors and MPNs (gore) four vain MPNe tem pv . * Leukemia; B CML & malignant. cancer —> Lore verano, yeriphenal tiood & bedy Hssves . 207% of Levkemia ane CML. “Serer Panes : ; PRilndelphia wemoeme i Tadiesdor Rat patent Bon“ent! 7 {Epidemiology ob CML: 45-59 Years, Males dime = 1.2 J Beomosome 2 22 tranglowtion e a a é anne Ft Re end é . es* Diegnosis of — dystic fibrosis , abnormal myeus clearence - -- . © MuViples TCR > simultaneous ampitication & foo on more DNA (eon) “Prvets ina single reachion vessel, ~Neomal we fe called monoplex /oniplex / single” template—per.so¥-singla. primes —Moltipes por Pequine 00 on more rimen pairs. . Tyres : © Single TEmpicte pop. 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