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1!"#$%&"'()*+,-%./$0,1'2"1"$0#34,-0#35 6$&%#$%&"',7'-,-%./$0,13 89:';'-,-%./$0,13'<"=/>01?'1"%$&/..@² 4=03'03'/'1%..'A,B". :>,.%$0,1/&@'7,&#"3'/#$01?',1'-,-%./$0,13² C%$/$0,1D'C0?&/$0,1D'E1<&""B01?FG&07$D'H'6"."#$0,1'allele frequencies, gene frequencies, HWE, potential risk using frequencies2 4="'<&/1#=',7'?"1"$0#3'$=/$'3$%B0"3'$="'A/I"J%-',7'?&,%-3',7'01B0>0B%/.3'/1B'=,K'$="'?&,%-3'?"1"$0#'A/I"J%-'#=/1?"3',>"&'$0A"L C"1B".0/1'-,-%./$0,1 ;'/'?&,%-',7'01$"&<&""B01?D'3"M%/..@'&"-&,B%#01?'01B0>0B%/.3'K0$='/'#,AA,1'3"$',7'?"1"3'² 0L"L'$="'?"1"'-,,.L +,-%./$0,13'">,.>"'$=&%'#=/1?"3'01'$="0&'?"1"'-,,.3D'3,'-,-%./$0,1'?"1"$0#3'03'/'3$%B@',7'">,.%$0,1L N'A/O,&'">,.%$0,1/&@'7,&#"35 A%$/$0,1D'A0?&/$0,1D'01<&""B01?F?"1"$0#'B&07$D'/1B'3"."#$0,1+,-%./$0,1'?"1"$0#3look at individuals that have an equal chance of mating with each other3P0&3$'3$"-5G"3#&0<01?'-, -%./$0,1' ?"1"$0#'>/&0/$0,12"1,$@-"'7&"Q%"1#0"3 RS';'$,$/.'3/A-."3T7UVVW';'X'VVFS 7UV/W'';'X'V/FS 7U//W''';'X'//FSV.."."'7&"Q%"1#0"3' R-'Y'Q';'ZTR7U/.."."W';'X'#,-0"3',7'/.."."F$,$/.'X'#,-0"3',7'/..'/.."."3T-';'7UVW';'U(1VVY'1V/WF(SQ';'7U/W';'U(1//Y'1V/WF(S,&-';'7UVW';'7UVVW'Y'[7UV/WQ';'7U/W'';''7U//W'Y'[7UV/Wallele frequencies from genotype frequencieshow to calculate with counts4:M/A-."5'V.."."'/33,#0/$"B'K0$='VEG6'&"303$/1#"'#/.."B'\\]^¨_(www.thetech.org/genetics/ask.php?id=113 \\]^'03'/'#="A,I01"'&"#"-$,& \="A,I01"3'/&"'30?1/.01?'A,."#%."3'%3"B'<@'$="'0AA%1"'3@3$"AL \\]^'03'%3"B'<@'8E`'$,'/$$/#='$,'\GNY'4'#"..3'/1B'01>/B"'$="AL'5C,3$'=%A/1'3%<-,-%./$0,13'#,1$/01'/'\\]^'/.."."'I1,K1'/3' _('U/'B"."$0,1'A%$/1$WG"."$0,1'#&"/$"3'/'7&/A"3=07$'7,..,K01?'#,B,1'Z)N'K=0#='&"3%.$3'01'_Z'01#,&&"#$'/A01,'/#0B3'A/I01?'$="'-&,$"01'03'1,1J7%1#$0,1/.'changes basic protein sequence of the receptor6:ML'\\]^¨_('/1B'VEG6'&"303$/1#"E1'Zaaa'P&"1#='-",-."52"1,$@-"3 2"1,$@-"'P&"Q%"1#@bc^'VV ;'bc^FZaaa ;'aLbc^Zca'V/ ;'ZcaFZaaa ;'aLZcaZ^'// ;'Z^FZaaa ;'aLaZ^V.."."'7&"Q%"1#0"3-';'7UVW';'U(1VVY'1V/WF(S';-'; ;'U(dbc^'Y'ZcaWF(aaa' ;'Zb)aF(aaa';'aL)cQ';'7U/W';'U(1//Y'1V/WF(SQ'; ;'U(dZ^'Y'ZcaWF(aaa ;'((aF(aaa'';'aLZZ78/&B@²9"01<"&?'+&01#0-."C,B".3'"77"#$',7'C"1B".0/1'-&01#0-."3'/1B'&/1B,A'A/$01?',1'?"1,$@-0#'/1B'/..".0#'7&"Q%"1#0"3V33%A-$0,135 !/&?"'-,-%./$0,1'/1B'&/1B,A'A/$01? S,'A%$/$0,1D'A0?&/$0,1D'/1B'1/$%&/.'3"."#$0,1+&"B0#$0,13ZL V..".0#'7&"Q%"1#0"3'&"A/01'#,13$/1$'7&,A'?"1"&/$0,1'$,'?"1"&/$0,1(L 2"1,$@-0#'7&"Q%"1#0"3'3$/<0.0e"'UK0..'1,$'#=/1?"W'/7$"&',1"'?"1"&/$0,1'01'$="'-&,-,&$0,1389:';'VV5-(V/5(-Q' //5Q(want to see if the population follows mendelian geneticsp + 2pq + q = 122no strong genetic driftdon't wanna kill off a certain number of individualsdon't want alleles or genotypes to come or leaverare but don't calculate themNEUTRALif it deviates from HWE then evolution is occurring88/&B@²9"01<"&?':Q%0.0<&0%A2"1,$@-"35 VV5-(V/5(-Q //5Q(9=@f'C"1B".0/1'3"?&"?/$0,1';'?/A"$"3'01'"Q%/.'&/$0,3]/1B,A'A/$01?';'?/A"$"3'%10$"'/$'&/1B,A+++= 198/&B@²9"01<"&?':Q%0.0<&0%A2"1,$@-"35 VV5-(V/5(-Q //5Q(9=@f'C"1B".0/1'3"?&"?/$0,1';'?/A"$"3'01'"Q%/.'&/$0,3]/1B,A'A/$01?';'?/A"$"3'%10$"'/$'&/1B,AV.."."'7&"Q%"1# 0"3'3$/@'#,13$/1$'7&,A'?"1"&/$0,1'$,'?"1"&/$0,1'01'89:S· S(Y(-QF(';'-U-YQW';'-p from the previous generation is equal to the p' from the next generation10\/.#%./$01?':M-"#$"B'2"1,$@-"'P&"Q%"1#0"3'01'89:'"ML'\\]^¨_(!"#$%&$'()*+* ,-(.(/00012"1,$@-"3 g<3L V.."."'P&"Q3VV';'bc^FZaaa';'aLbc^ -';'U(1VVY'1V/WF(S';'Zb)aF(aaa';'aL)cV/'';'ZcaFZaaa'';'aLZca Q';'U(1//Y'1V/WF(S';''((aF(aaa'';'aLZZ//''';'Z^FZaaa'''';'aLaZ^234$5+$'(6$78+94$#(:7(;<2( :M-L'P&"Q \,%1$3VV5-(UaL)cW(;'aLbc(Z ;'bcZL(V/5(-Q (UaL)cWUaLZZW ;'aLZc^) ;'Zc^L)//5'Q(UaLZZW(;'aLaZ(Z ;'Z(LZƸ(;'ƵUg<3'² :M-W(F:M-';'Ubc^JbcZL(W(FbcZL('Y'UZcaJZc^L)W(FZc^L)'Y'UZ^JZ(LZW(FZ(LZ';'aL)bbBL7L';'ZD'+';'aL_^'1,$'30?1070#/1$.@'B077"&"1$'$=/1'89:1212x 1000total populationAAAaaaused allele frequency, of which there are only 2 so it's 1 degree of freedom instead of 2 even though there are 2 genotypes11g1"'0A-.0#/$0,1',7'89:90$='&/&"'/.."."3D'$="&"'/&"'A/1@'A,&"'="$"&,e@?,$"3'$=/1'=,A,e@?,$"3'7,&'$="'&/&"'/.."."9="1',1"'/.."."'7&"Q%"1#@'03'=0?=D'A,3$'01B0>0B%/.3'/&"'=,A,e@?,%3LP,&'/%$,3,A/.'&"#"330>"'$&/0$3'U01#.%B01?'&"#"330>"'B03"/3"3WD'A,3$',7'$="'B"7"#$0>"'/.."."3'/&"'7,%1B'01'="$"&,e@?,$"3when p and q are equal, you get the maximum number of heterozygoteswhen p is small, the number of heterozygous dominants go down12]/&"'/.."."'"M/A-."'P,&'/'&/&"'/.."."D'$="'7&"Q%"1#@'01'="$"&,e@?,$"3'03'?&"/$"&'$=/1'$="'7&"Q%"1#@'01'=,A,e@?,$"3L':M/A-."'Z5'-';'aLcD'7&"Q%"1#@',7'Q';'aLZVV';'-(';'UaLcW(;'aL)ZV/';'('-Q';'('UaLcWUaLZW';'aLZ)//';'Q(';'UaLZW(;'aLaZ:M/A-."'(5'-';'aLccD'7&"Q%"1#@',7'Q';'aLaZVV';'-(';'UaLccW(;'aLc)V/';'('-Q';'('UaLccWUaLaZW';'aLaZc)//';'Q(';'UaLaZW(;'aLaaaZ]/$0,';'aLZ)FaLaZ';'Z)]/$0,';'aLaZc)FaLaaaZ';'Zc)q is in 10% of the populationq is in 1% of the populationthe smaller the q allele frequency gets, the higher the number of heterozygotes relative to the population1389:'03'%3"7%.'7,&'#/.#%./$01?'7&"Q%"1#@',7'#/&&0"&3' 01'-,-%./$0,13':M/A-."';'\@3$0#'70<&,303'VA,1?'-,-%./$0,13',7':%&,-"/1'B"3#"1$D'#@3$0#'70<&,303'/77"#$3'ZFZbaa'1" K<,&13L'9=/$'03'$="'7&"Q%"1#@',7'#/&&0"&3fQ(;'ZFZbaa';'aLaaa^cQ';''''Laaa^c';'aLa(N-'Y'Q';'Z''4="&"7,&"'-';'aLcbh\/&&0"&3'/&"'="$"&,e@?,$"3LV/';'('-Q';'('UaLcbhWUaLa(NW';'LaNh)E1'$=03'#/3"'ZF'(Z'01B0>0B%/.3'03'/'#/&&0"&L'frequency of aa and q 22pq = frequency of carriers/heterozygotes~ 4.7%1489:'#/1'<"'%3"7%.'7,&'#/.#%./$01?'$="'&03I',7'=/>01?'#=0.B&"1'K0$='/'&"#"330>"'B03"/3"'01'I1,K1'#/&&0"&3L':ML'ZNLZa'\@3$0#'P0<&,303'U/?/01WL'9"'I1,K'/'A/1'#/&&0"3'$="'#@3$0#'70<&,303'/.."."L'8"'A/&&0"3'/'-="1,$@-0#/..@'1,&A/.'K,A/1'/1B'$="'01#0B"1#"',7'#@3$0#'70<&,303'03'Z'01'ZbaaL'9=/$'03'$="'-&,</<0.0$@'=03'K07"'03'/'#/&&0"&fQ(;'ZFZbaa';'aLaaa^cD'6g'Q';'UZFZbaaW[;'aLa(N';'Q601#"'-'Y'Q';'Z'4="1'-';'Z'² Q';'Z'² aLa(N';'aLcbh';'-+&UV/WF+&UVVYV/W';'(-QF-(Y(-Q';'(UaLcbhWUaLa(NWFaLccc';'0=0>?9=/$'03'$="'-&,</<0.0$@'$=/$'$="0&'70&3$'#=0.B'03'/77"#$"BfP/$="&'M' C,$="&aL^ M' UaL^WUaLaNbW';'0=0//@(ON EXAM ~ VollmerAaAA or Aafrequency of carriers = 2(0.024 x 0.976)probability that she's a carrierknow that she's normalchance that she's a carriercarrier chancechance of her passing it onchance of her having child having a child with CS if it has CS = 25%15:M$"1B01?'8/&B@'9"01<"&?'$,'A%.$0-."'/.."."3P0?'ZNLZNP&"Q%"1#@',7'/1@'=,A,e@?,%3'?"1,$@-";'3Q%/&"',7'$="'/.."."'7&"Q%"1#@''P&"Q%"1#@',7'/1@'="$"&,e@?,%3'?"1,$@-"';'(M'-&,B%#$',7'$="'/.."."'7&"Q%"1#0"3p q r2pq


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NU BIOL 2301 - Population Genetics

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