Molecular Genetics Week 2: Sex-linkage and X- inactivation and pedigree analysis
Molecular Genetics Week 2: Sex-linkage and X- inactivation and pedigree analysis BI381
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This 13 page Class Notes was uploaded by Jessica Niswonger on Tuesday September 8, 2015. The Class Notes belongs to BI381 at Southeast Missouri State University taught by Dr. Rebeccah Kurzhals in Summer 2015. Since its upload, it has received 107 views. For similar materials see Molecular Genetics in Biology at Southeast Missouri State University.
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Date Created: 09/08/15
Scanned by CamScanner n3 39 A 39a l 8315 Nomen ciatqre m EX Humansquot hqu Wl39 U T S U rsvcre I dem w mmx CFTE MS 3 EX Yeast avg L I M61 avg Z Naming systems vary from organism to organism g Scanned by CamScanner CFTU 033W brosis Alleles at molecular level 033115 rlllrml 3 7 3939L fr 39 r MA J r39quot Scanned by CamScanner 9215 13 Sex linkage and X inactivation Agenda Vocab quiz Sex linkage X inactivation i Friday perigees probabilities and problem solving Gene sites sensitive to mutation quotScanned by Uamscanner DNA Components of protein active site Promoter lntron l I a a t 339 Wild type ha I a quotI 1 7 I Exon Exon o ref 7 m1null y D a quotquotquotquot quotquotquotquotquotquot m2 null mm 39 m3 null m4 leaky 2 r 1 Tree m5 silent f quot ii39 quotquotquot7quotquot a m6null m2 Active site Protein 0 mutant site lquot 13quot Figure 2 Armodutrm to rm M y39u39h Incnth Mitten F 20 I 1 W it I warrant and Cumming 94215 Sex linkage and X inactivation Mutant sites in the PKU gene 24 5 7 11 Exon 4 11 10 4 7 37 1219 1 mutations quotn rm nunrW WWW m mfm uLvnreri39 739 L a Pquot 39 F quotI1 1 2 3 I 5 6 8 9 12 r e m m hell llU nu Introquot I l I l I I II mutations I 4 2 2 13 1 41 1 guralH mmwmfm Auhm Tnuhld mn MHW H lumnmnu tumn glonar eROn39 o How much is removed vs how much is coded Side note if using the word Expressed be specific on how you mean it le genotype phenotype Scanned by CamScanner 9215 Sex linkage and x Inactlvntlon O Males are hemizygous for genes on the X 7 M b rdf mun w i x x w quot 61 22 EX 33 calor Mn me Elias quotEd 5425quot mLt39f39ahi WHITE 393 f 7 quotf r T L39jCHGL failed Whl i l Tad eye w W J U0 W W ie W W amp d39ej 3 w39 or w 7 6amper U quot7 or Scanned by CamScanner X linked and pedigree 090515 X linked Fruit flu eye color Wildtype red Mutant with white eyes Gene called white EX Rid eve E W nfl39wc Li31 Cf W iw f 09 W T i O 90 6 r0 BELL O r 931 p 039 Scanned by CamScanner X linked and pedigree 090515 Pedigree symbols E Male 0 Female D O Mating Parents and children I boy girl Dlzygiotic Monoxygotic gtEgt 3gtEgtSgt 81 O Flourl In in order of birth nonidenticol twins identical twins Sex unspecified Number ol children of so indicated Minted individuals 0 Heterozygous for autosomal recossiw Carrier of sexlinked quotISle Death Abortion or stillbirth sex unspecified U Propositus Method ol identifying persons In a pedi le l gremhere thepro I posilus is child 2 In quot generation lLor quotQ U O Connnguin eous marriage b1 r mhu39mw w 39 l Allth Truth HIIII I I WNW Hi innnun and Irmm I 2 one Ala one AIA u a 35 Ma M m ii A A A A Ala Ala AM 6 7 110 Af w 599 A 00 A old A hmrl I39ll Wed tun WM 4 er a u 01 w M IIW bill lif gb f runHm l Scanned by CamScanner 18 X llnkml mm Hellman 0905 1 ON IEX AM Character 41 What Is the iaossll liw that am it a carrier AIM r ml39Ea ma M M OW S Luz 5quot ha 000 JARJAG ab Q39Qd rrihr g r fquot 13 L2 probmb d h 0C r l POLJMLWC3 G W rWS f vt ogLLgLQ as 3 nu 0 A0 2 2 E 1 Equot I I COL rrrtL r W55 M3 Scanned by CamScanner x linked and pedigree 090515 Inheritance of ll 5 Ma w mljcbbcb ljibb n w 123456B 910111213 aria ala afa aa A a am Ma 00 10 afa Ala afa Aa Dal m kin9 ma i hrm quot396 I ll39 Scanned by CamScanner X linked and pedigree 0905 15 EX If males are disproportionally affected 0 Because it skips a generation It is not autosomal dominant a it is a recessive allele EX colorblindness Xf colorblindness xxx If f2 generation produces an affected son but is unaffected she is heterozygous Any male affected would be X Y a V probability this woman will produce a colorblind son or a daughter carrier EX If it is shown skipping a generation it is autosomal recessive Always assume married individuals forgag disorder are AA unless they produce affected children in which case they would have to be A3 J Scanned by CamScanner X linked and pedigree 090515 Scanned by CamScanner Autosomal Dominan I t Present in every generation Affected parents can have unaffected kids Xlinked Recessive 0 Only males are affected or signi cantly more males are affected than females 0 Affected males can not pass on trait to sons 0 Affected males will always pass the trait on to all their daughters their daughters will be carirlerS X linked Dominant 0 Affected males pass trait on to all daughters I Affected males never pass on trait to sons Ylinked very rare 7 0 Only ever occurs in males affected dad passes on to ALL sons and never daughters Sometimes you have to go through the process of elimination to nd the m can only narrow it down to 2 possible answers but if one IS more like aobuel probable genotypes sometimes you39re required by the question as you be sure of what you are predicting 11y possible answer Sometimes y say so and indicate why You can you go or at the end it will help Scanned by CamScanner