INTRO BIOINFORMATCS BCB 444
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This 5 page Class Notes was uploaded by Mrs. Frederic Hansen on Sunday September 27, 2015. The Class Notes belongs to BCB 444 at Iowa State University taught by Staff in Fall. Since its upload, it has received 9 views. For similar materials see /class/214473/bcb-444-iowa-state-university in BioInformatics at Iowa State University.
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Date Created: 09/27/15
BCB 444544 lntraductian ta Biainfarmatics Lecture 4 Basic Genetics Overview Overview Wnat is genetics Genetics and inneritance Case studynom tne textbook Pea uwevscanbe g i ooroie uiwnite Cmss ooroie ano wniie aget aii ooroie creemnenoei ieons Cmss oiisoring 39 egetiApuvple inheritance occurs in a discrete manner Mnggza Siioes aoaoteorrorn a presentation by Erin Gariano rrorntne enorne Sciences Centre in Vancouver Inheritance Mendelian inheritance Tnere are 2 copies oreaen gene in each eeii ano a singie gene determines a single trait Genes have aiieieetnat are dominant or recessive pnenmvpe a Homozygous tne 391 lndlvldua stne eenmwe A A x a a metwo aiieiesror 39 39t 39 a gene f Heterozygoustne inoi iooai nastwo mmmmue e Aahmmsmue e oirrerentaiieiesrora x gene Alleles ieassnn Hemizygoue ianoerniv in ermine In a family with 4 children what is the prabability that all 4 are female NonMendelian inheritance Some traits are oeterrnineo by 2 or more genes eaen Witn rnoitioie aiieies Continuous traits are oeterrnineo by iarge nornoers or genes 4 4V V l l I 3 oiiiereni eenesoeiennine ii comm palm mine i new We ilml iii Human neient is a eontinoeosmn Genetics and environment Pnenotype rs oeterrnrneo oyBOTH genotype AND envrronment EXamp e Adu t onset mahetes Soseeptrornty genes are rnner eo Enyrronrnentar factors rnnoenee orsease onset eg ooesrty Genetic structures CeHs Geneg l 1 PS i Viv Chromosomes DNA Human chromosomes 22 parrs or aotosornes 2 sex enrornosornes xx orXY Xlinked traits Many genes are earneo on tne x ano not tne v enrornosorne Recesswe aHeres on tne x no appear oornrnant m rnares no otheraHehe presentto maskthe reeessrye pnenotype oquot X lt2 Os Examp e reorgreen coror pnnoness rsxrhnkeo quotnutm quotmumr Carriers Fernares can pe earnereror ankeo trarts Carners naye one copy or tne reeessrye aHehe ano one copy or tne oornrnant aHehe wnatrstne orsease statosrora tamer Carners usuaHy snow no orsease symptoms Our story so far Lrttre poy BB nas sorne senoos promema BB S Mme protner rs oenrno rn oeyeroprnent as me BB nastyyo oroer srstersvyrtn no apparent neartn pro ems BB soroestsrsterrsrnarneovyrtn one neartny oaognterano one papy ontne Wa n onere ofBB s oreo at 2n years oro rrorn a orsease srrnnar to 88 s Otner rnares m BB sfamHy naye arso oreo asyoong aoorts Pedigree Analysis Pedigree Analysis dares represent males cireies represent ternaies Diarnends represent individuals at unknuvvn gender Filled in shape in purple in the bank s example rneans disease Dets represent carrier status Conclusions from BB s pedigree analysis The disease is recessive Xeiinked Several Wumen are earners l dlvldual 12 luuks like a male With the disease eh X chrom osome inactivation ehrerneserne has many rnere genes than the v rerneserne Females have Zgtlts gt0ne x rndst be inactivated te preserve gene dusage inamivatiun is random during develupment cdidr pattern seen in ieneie Eallca mlsduelavandam gtlt GG s problem HerX chromosome with a wildtype copy ofthe disease gene is being inactivated Karotyping A karotype i5 a picture ofaii ofthe chromosomes from a cell N s I Iquot N H quot H c a gt w in Ji it b39 t s n u 3i Detailed Karyotype Analysis I HIRIIIi Mutation DNA mutation is any change in DNA sequence Mutation can occur due to DNA damage 39om environmental or chemical agents eg UV Genetic events eg recombination exchange of DNA between chromosomal segments Chromosome level mutation Changes that affect part of a chromosome 1 l Il39rlr I u E u l H Deletion I quot n 39 H E i a 1 E Inversion r H R i E E Ii ll t Translocation COW number Gene level mutation Changes that affect an entire gen e Tandem gene duplication can result 39om unequal DNA exchange between chromosomes unequal crossover Role of mutation in disease Mutatten aivvays nas tne petenttat te cause utsease Singie Emma acid cnanee Dmmm g cw 939 some ceiianema Wu t Cancev nouns en mmatmns cause cet sta even in an uncammiied nay Role of mutation in evolution Mutattun is nut aH badi Occurs at a ntgn rate tn aH uur ceHs and dues NOT aivvays nave negatNe Effects ND mutattun puputattun cannut change and adapttu new cundtttuns Randum cnanges tn DNA sequence benenctat cnanges tn pnenetype 39 naturai seiectmn Evuiuttun ct peputatten Beneficial mutations cnanges tn DNA sequence can be benenctat 5cnne cnanges tn DNA sequence at muiecu cugntze bactena can prutectagatnstdts Dupttcatten et a gene aiiuvvs ene upy Wntcn can resuitm a newand utnerent iesthat ease te rnutate freeiy gene Consanguineous RFLP Bank s webstte Web resources Genettcs giussaryr nttg vavgenume guvgiussan t