KENDRIYA VIDYALAYA VAYU SENA NAGAR ARINDAM MISHRA CLASS XII-C
BIOLOGY PROJECT PEDIGREE ANALYSIS Certifcate NAME : ARINDAM MISHRA CLASS : XII – C ROLL NO. NO. :12343 INSTITUTION : KENDRIA !IDALAA !AU SENA NA"AR T#i$ i$ certife% t& 'e t#e '&(af%e )&r* &+ t#e $t,%e(t i( t#e
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ACKNOWLEDGEMENT I would like to express my sincere gratitude to my biology mentor R. KOCHE for her vital support, guidance and encouragement without which this project would not have come forth from my side. I wish to thanks my parents for their undivided support and encouraged me to go my own way, without which I would be unable to complete my project.
INTRODUCTION Genetics is
the study of genes genes,, heredity heredity,, and variation variation in in living organisms organisms.. It is generally considered a field of biology of biology,, but it intersects frequently with many of the life sciences and is strongly linked with the study of information systems. The father of genetics is Gregor endel, endel, a scientist and !ugustinian friar . endel studied "trait inheritance," patterns in the way traits were handed down from parents to offspring. #e observed that organisms $pea plants% inherit traits by way of discrete &units discrete &units of inheritance&. This term, still used today, is a somewhat ambiguous ambiguou s definition of what is referred to as a gene. gene.
MENDELIAN INHERITANCE Mendelian inheritance is inheritance inheritance of of biological biological features features that follows the laws proposed by Gregor Johann Mendel in Mendel in 1865 and 1866 and re-discovered in 1900 !t was initially very controversial "hen Mendel#s theories were integrated with the chro$oso$e theory of inheritance by inheritance by %ho$as &unt Morgan in Morgan in 1915' they beca$e the core of classical genetics genetics
Mendel’s laws Mendel#s law of segregation describes what happens to the alleles that $a(e up a gene during for$ation of ga$etes )or e*a$ple' suppose that a pea plant contains a gene for flower colour in which both alleles code for red +ne way to represent that condition is to write ,,' which indicates that both alleles , and ,. code for the colour red /nother gene $ight have a different co$bination of alleles' as in ,r !n this case' the sy$bol , stands for red colour and the r for not red or' in this case' white Mendel#s law of segregation says that the alleles that $a(e up a gene separate fro$ each other' or segregate segregate'' during the for$ation of ga$etes
%hat fact can be represented by si$ple euations' such as2 ,, 3 , 4 , or ,r 3 , 4 r Mendel#s second law is called the law of independent assort$ent %hat law refers to the fact that any plant contains $any different (inds of genes +ne gene deter$ines flower colour' a second gene deter$ines length of ste$' and a third gene deter$ines shape of pea pods' and so on Mendel discovered that the way in which alleles fro$ different genes separate and then reco$bine is unconnected to other genes %hat is' suppose that a plant contains genes for colour ,,. and for shape of pod %%. %hen Mendel#s second law says that the two genes will segregate independently' as2 ,, 3 , 4 , and %% 3 % 4 % Mendel#s third law deals with the $atter of do$inance uppose that a gene contains an allele for red colour ,. and an allele for white colour r. "hat will be the colour of the flowers produced on this plant Mendel#s answer was that in every pair of alleles' one is $ore li(ely to be e*pressed than the other !n other words' one allele al lele is do$inant and the other allele is recessive recessive !n the e*a$ple of an ,r gene' the flowers produced will be red because the allele , is do$inant over the allele r
MENDELIAN INHERITANCE PATTERNS AND GENETIC DISORDERS "ithin a population' there $ay be a nu$ber of alleles for a given gene !ndividuals that have two copies of the sa$e allele are referred to as homozygous homozygous for for that allele7 individuals that have copies of different alleles are (nown as heterozygous heterozygous for for that allele %he inheritance
patterns observed will depend on whether the allele all ele is found on an autoso$al chro$oso$e or a se* chro$oso$e' and on whether the allele is dominant dominant or or recessive recessive Autosomal dominant dominant
!f the phenotype associated with a given version of a gene is observed when an individual has only one copy' the allele is said to be autoso$al do$inant %he phenotype will be observed whether the individual has one copy of the allele is heteroygous. or has two copies of the allele is ho$oygous.
Autosomal recessive recessive
!f the phenotype associated with a given version of a gene is observed only when an individual has two copies' the allele is said to be autoso$al recessive %he phenotype will be observed only when the individual is ho$oygous for the allele concerned /n /n individual with only one copy of the allele will not show the phenotype' but will be able to pass the allele on to subseuent generations /s /s a result' an individual heteroygous for an autoso$al recessive allele is (nown as a carrier Sex-linked or X-linked inheritance
!n $any organis$s' the deter$ination of se* involves a pair of chro$oso$es that differ in length and genetic content - for e*a$ple' the : syste$ used in hu$an beings and other $a$$als
%he chro$oso$e carries hundreds of genes' and $any of these are not connected with the deter$ination of se* %he s$aller : chro$oso$e contains a nu$ber of genes responsible for the initiation and $aintenance of $aleness' but it lac(s copies of $ost of the genes that are found on the chro$oso$e /s a result' the genes located on the chro$oso$e display a characteristic pattern of inheritance referred to as sex-linkage sex-linkage or or Xlinkage linkage )e$ales . have two copies of each gene on the chro$oso$e' so they can be heteroygous or ho$oygous for a given allele &owever' $ales :. :. will e*press all the alleles present on the single chro$oso$e that they receive fro$ their $other' and concepts such as #do$inant# or #recessive# are irrelevant / nu$ber of $edical conditions in hu$ans hu$ans are associated with genes on the chro$oso$e' including hae$ophilia' $uscular dystrophy and so$e for$s of colour blindness
PEDIGREE CHART AND ITS ANALYSIS / pedigree chart is chart is a diagra$ that shows the occurrence and appearance or phenotypes phenotypes of of a particular gene or organis$ organis$ and and its ancestors ancestors fro$ fro$ one generation to the ne*t' $ost co$$only hu$ans hu$ans'' show dogs dogs'';<=and race horses horses >edigree analysis is also useful when studying any population when progeny data fro$ several generations is li$ited >edigree analysis is also useful when studying species with a long generation ti$e / series of sy$bols are used to represent different aspects of a pedigree %o the right are the principal sy$bols used when drawing a pedigree
+nce phenotypic data is collected fro$ several generations and the pedigree is drawn' careful analysis will allow you to deter$ine whether the trait is do$inant or recessive &ere are so$e rules to follow )or those traits do$inant gene •
•
•
e*hibiting action2
affected have at affected
individuals least one parent
the generally generation
phenotype appears every
two unaffected parents only have unaffected offspring
%he following is the pedigree of a trait controlled by do$inant gene action
/nd for those traits e*hibiting recessive gene action2 action2 •
unaffected parents can have affected offspring
•
affected progeny are both $ale and fe$ale
%o the right is the pedigree of a trait controlled by recessive gene action
ANALYSIS OF MY FAMILY PEDIGREE
CHARACTERISTIC 1: PRESENCE OF ATTACHED EARLO LOB BE %he earlobe character of whether it re$ains attached to the head or re$ains free such that its end hangs down fro$ point of attach$ent is a characteristic inherited fro$ our ancestors parents' grandparents etc. %he presence of an attached ear lobe is due to a recessive autoso$al allele pair or gene and the presence of free earlobe is due to a do$inant gene
COMMENTS: !n the ad?oining pedigree of $y fa$ily. it is observed that in the first generation person 1grandpa. and person @grand$a. have free earlobes therefore genotypically both of the$ have a do$inant allele for this characteristic !n the ne*t generation it is seen that one of their sons >erson52 $y @nd uncle. has attached earlobes $a(ing hi$ ho$oygous recessive ieee ieee.. and indicating that both the persons of first generation ie Grand$a and grandpa. were heteroygous ie Ee. Ee. %heir other four sons and the daughter re$ain
heteroygous Ee Ee.. or ho$oygous do$inant thus possessing free ear lobes >erson 1of generation !!. gets $arried to person @ who phenotypically has free earlobes thus genotipically Ae or AA.%hey have a daughter person 1 of generation !!!2 $y cousin. who again has free ear lobes hence genotipically Ee or Ee or EE EE >erson B and C of generation !!2 $y father and Brd uncle. get $arried to person < and 8 of generation !!2 $y $other and Brd aunt. respectively who have attached earlobes hence genotipically ee ee >ersons Band < of generation !!. have two sons persons @ and B of generation !!!2 $e and $y brother. out of this person @ $e. has attached earlobe $a(ing hi$ genotipically ee ho$oygous recessive.' recessive.' "hile his brother person B of generation !!!. has free earlobes thus $a(ing hi$ genotipically Ee genotipically Ee ho$oygous ho$oygous do$inant. i$ilarly persons 5 and 6 of generation !!. have two sons persons 5 and 6 of generation !!!2 $y cousins. +ut of this person 5 has attached ear lobe hence $a(ing hi$ ho$oygous recessive ie ee. ee. and his brother person 6' generation !!!. is heteroygous do$inant Ee Ee.person .person 5 generation !!2 $y second uncle. gets $arried to person 6generation !!!2 second aunt. who has free earlobes hence $a(ing her ho$oygous or heteroygous do$inant %hey have a son person < generation !!!2 $y second cousin. who has free ear lobes and hence is heteroygous recessive Ee Ee. . >erson 9 generation !!!2 $y aunt. gets $arried to person 10 generation !!!. who is ho$oygous recessive ee ee.. as he
has fused earlobe' they have two children person C and 8 of generation !!!2 $y Cth and 8th cousins. who happen to have free earlobes hence are ho$oygous do$inant EE. EE. or heteroygous Ee Ee. .
CHARACTERISTIC 2: TONGUE ROLLER %his is the particular ability to roll the tongue into DuE shaped tube %his ability arises due to the presence of a do$inant gene $ay be ho$oygous or heteroygous. !t is an inherited characteristic and follows the Mendelian laws of inheritance Fon rollers are ho$oygous recessive
COMMENTS: !n the ad?oining pedigree' we can observe person 1 of generation !2 $y grandfather. is unable to roll his tongue hence he is ho$oygous recessive rr rr .>erson .>erson @ of generation ! $y grand$other. posses the ability to roll her tongue' hence she $ay be ho$oygous do$inant or heteroygous !n the second generation it is is observed that out of the si* progenies' person 1 and 11
$y fist and 6th uncle. are unable to roll their tongue and the others posses this ability hence confir$ing two things2
>erson @ of first generation grand$a. is heteroygous do$inant Rr Rr . .
>ersons 1 and @ of generation !!2 $y uncles. are ho$oygous recessive rr rr . . >ersons B' 5' C and 9 of generation !! are heteroygous ie Rr).
!n second generation person 1 gets $arried to person @ who is ho$oygous do$inant ,,' able to roll the tongue. and have a daughter person1 of generation !!!2 $y cousin. who naturally is a tongue roller and hence heteroygous do$inant Rr Rr . . >erson B of generation !!2 $y father. $arries person < of generation !!2 $y $other. who is heteroygous do$inant Rr Rr . . %hey have @ children person @ and B of generation !!!2 $e and $y brother. +ut of this person @ of generation generation !!!2 $e. is a non roller and hence ho$oygous recessive rr rr .' .' while his brother person B' generation !!!. is a tongue roller and hence heteroygous do$inant Rr Rr . . >erson 5 of generation !!2 $y uncle. gets $arried to person 6 of generation !!2 $y aunt. who is a non roller and hence ho$oygous recessive rr rr . . %hey have a son who is also a non - roller and hence his ho$oygous recessive rr . . >erson Cof generation !!. gets $arried to person 8 who is ho$oygous do$inant ,,' a %ongue roller. %hey have @ sons persons 5 H 6 of generation !!!.' both of the$ being tongue rollers $ay be ho$oygous
do$inant RR RR.. or heteroygous Rr Rr . . >erson 9 of generation !!!2 $y aunt. gets $arried to person 10of generation !!!. who is a non roller and hence ho$oygous recessive rr rr . . %hey have @ children out of which' progeny one ie' person C of generation !!! is a tongue roller and hence heteroygous do$inant Rr Rr . while her brother person 8' generation !!!. is non roller and hence ho$oygous recessive rr rr . .
CHARACTERISTIC 3 : INTERLACED FINGERS. +n interlacing the fingers of our hands the way in which our thu$bs are crossed is controlled by an inherited gene !t follows the Mendelian Iaws of
inheritance !f the left thu$b covers the right it $eans that the person has a ho$oygous do$inant or heteroygous allele pair "hereas if the right thu$b covers left it $eans the person has ho$oygous recessive gene
COMMENTS: !n the ad?oining pedigree person 1 of generation ! grandfather.' shows ho$oygous recessive trait ff ff . as his right thu$b covers over his left &owever person @of generation 12 $y grand$other. shows a do$inant gene as her left thu$b over laps her right he $ust be heteroygous as three of her si* children show recessive trait' ie' persons 1' 5' C of generation !!2 $y uncles. show ho$oygous recessive trait ff ff . . >erson 1of generation !!2 $y uncle. gets $arried to persons @of generation !!2 $y aunt. whose right thu$b overlaps the left hence she is ho$oygous recessive ff .%hey .%hey have a daughter person 1 of generation !!!2 $y cousin. who is also obviously ho$oygous recessive ff . . >erson Bof generation !!2 $y father. who is heteroygous Ff Ff . $arries person <of generation !!2 $y $other. whose right thu$b overlaps the left7 hence she is ho$oygous recessive ff ff . . %hey have two children person @HB of generation !!!2 $e and $y brother.' both of the$ are ho$oygous recessive f f. >erson 5 of generation !!2 $y uncle. who is ho$oygous recessive $arries person 6 of generation
!!2 $y aunt. whose left thu$b overlaps her right' $a(ing her ho$oygous do$inant FF FF.%hey .%hey have a son person < of generation !!!. whose left thu$b overlaps the right $a(ing hi$ heteroygousFf heteroygousFf . >erson C of generation !!. who is ho$oygous recessive $arries person 8of generation !!!2 $y aunt. whose left thu$b overlaps her right hence $a(ing her ho$oygous do$inant FF FF.%his .%his is evident fro$ the fact that both of her children person 5H6 of generation !!!2 $y cousins. appear to be heteroygous Ff Ff . as for both of the$ their left thu$b overlaps their right >ersons 9 of generation !!2 $y aunt. who appears to be ho$oygous do$inant FF FF.. gets $arried to person 10 of generation !!2 $y uncle. who w ho also appears to be ho$oygous do$inant FF FF.%hey .%hey have two children persons CH82 $y cousins. who are also naturally ho$oygous do$inant FF FF. .
CHARACTERISTIC :HITCHHIKERS THUMB &itchhi(ers thu$b is a (ind of bent thu$b that a person possesses !t is seen when a person gives a thu$bs up to so$e one !f the thu$b is straight a do$inant gene either ho$oygous or heteroygous ie or s. is indicated %he bent thu$b is the hitchers thu$b and people with such thu$b have ho$oygous recessive gene ss.
omments!
I( t#e a%=&i(i(0 ;e%i0ree )e $ee t#at ;er$&( 1 &+ 0e(erati&( I 6 0ra(%+at#er8 ;&$$e$$e$ t#e #itc##i*er$ t#,' a$ #e i$ #&&>0&,$ rece$$i?e 6$$8. S#e arrie$ ;er$&( 2 6 0ra(%&t#er8 )#& a$ a $trai0#t t#,'. S#e a #e(ce 'e #eter&>0&,$ #&&>0&,$ %&i(a(t 6S$$$8. H&)e?er it i$ e?i%e(t t#at $#e i$ #eter&>0&,$ a$ &,t &+ t#eir c#i<%re(
;er$&($ 3@ @ B@8 ;&$$e$$ t#e #itc##i*er$ #itc##i*er$ t#,' a(% #e(ce are #&&>0&,$ rece$$i?e 6!!8 O,t &+ t#i$ ;er$&( B6&+ 0e(erati&( II: a,(t8 arrie$ ;er$&( 16&+ 0e(erati&( II: ,(c0&,$ rece$$i?e 6!!8. T#e #a?e 2 c#i<%re( 6;er$&( 5 &+ 0e(erati&(: III8 )#& are a<$& e?i%e(t< #&&>0&,$ rece$$i?e 6!!8 a(% #e(ce ;&$$e$$ #itc##i*er$ t#,'. er$&( er$&( 5 6&+ 0e(erati&( II8 )#& i$ #eter&>0&,$ 6S!8 arrie$ ;er$&( )#& i$ #&&>0&,$ rece$$i?e 6!!8 ;&$$e$$i(0 #itc##i*er$ t#,'. T#e #a?e 2 c#i<%re( &,t &+ )#ic# t#eir fr$t c#i<% 6;er$&( &+ 0e(erati&( III: c&,$i(8 i$ #&&>0&,$ rece$$i?e 6!!8 a$ #e #a$ t#e #itc##i*er$ t#,' )#i0&,$ 6S!8 a$ #e #a$ a $trai0#t t#,'. er$&( 16&+ 0e(erati&( 0e(erati &( II: ,(c0&,$ 6S!8 0et$ arrie% t& ;er$&( 26&+ 0e(erati&( III8 )#& a<$& ;&$$e$$e$ a $trai0#t t#,' a(% #e(ce i$ #eter&>0&,$ 6S!8. T#e #a?e a %a,0#ter 6;er$&( 1 &+
0e(erati&( III8 )#& #a$ a #itc##i*er$ t#,' a(% #e(ce a$ a #&&>0&,$ rece$$i?e 0e(&t;e 6!!8. er$&( 36&+ 0e(erati&( II: +at#er8 ;&$$e$$e$ t#e #itc##i*er$ #itc##i*er$ t#,' a(% #e(ce i$ #&&>0&,$ rece$$i?e 6!!8.He arrie$ ;er$&( 4 6&+ 0e(erati&( II: &t#er8 )#& #a$ a $trai0#t t#,'. It i$ c0&,$ a$ &(e #er c#i<%re( 6;er$&( 2 &+ 0e(erati&( III: e8 i$ #&&>0&,$ rece$$i?e 6$$8 )#i0&,$ %&i(a(t a(% #e(ce $#&)$ $trai0#t t#,'. er$&( 6&+ 0e(erati&( 0e(erati &( II: ,(c0&,$ rece$$i?e 6!!8 0et$ arrie% t& ;er$&( 6&+ 0e(erati&( II: a,(t8 )#& i$ a<$& #&&>0&,$ rece$$i?e 6!!8@ i.e. '&t# &+ t#e ;&$$e$$ t#e #itc##i*er$ t#,'. T#e #a?e a $&( 6;er$&( 4 &+ 0e(erati&( III: c&,$i(8 )#& (at,ra<< ;&$$e$$e$ t#e #itc##i*er$ t#,'@ $& #e #a$ a #&&>0&,$ rece$$i?e 0e(e 6!!8 $trai0#t t#,' a(% #e i$ #eter&>0&,$ %&i(a(t.
CONCLUSION
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)*! !)0'4 ! +," $"#,)#" )*,& ,&4)*&$ =&%& )% 6,& ,&' &% ,! )*! !)0'4 '##/#&! &)% )*# ,!)&#!! /#"*,/! )*#"# ! *%/# & )*# +0)0"# +%" , !%#)4 +"## +"%6 ,&4 =&' %+ '!#,!# ,&' !0<#"&$!. W*% =&%! %&# ',4 ) 6,4 ##& /"%'# 0! )* ,&!#"! )% >0#!)%&! ,5%0) %0" %"$&??
BIBLIOGRAPHY
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