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Classical and Modern Genetics

Mammalian Genomes

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Homo sapiens – connected through its DNA inheritance, to every other living creature on the planet. Human DNA is 98 identical to chimpan!ees

"ur genome is a living record o# our evolutionary $ourney.

"ut o# A#rica A%out 8&,&&& years ago Homo sapiens ac'uired an (edge) –

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ma*ing and using tools. +ocial interaction ,anguage

"ur ancestors spread out o# A#rica a%out -&,&&& yrs ago.

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Genome variations that a##ect the #unction o# genes can provide insight into the evolution o# early humans. Modern humans are genetically very similar. .e are less diverse than /e thin*, compared to other species.

Human Genome 0ro$ect.

amar* 45667258899 :heory. Mendel)s theory Mendal 45888258879 * * Genes carried %y autosomes are inherited. Genetic in#ormation could %e (hidden). survival o# the #ittest. * * "rganisms ac'uire ne/ #eatures %ecause o# an inner need. some degree o# di##erential death occurs among gametes. . :he ac'uired #eatures are inherited %y #uture generations.* Aimed to map the precise structure o# the entire human genome – to produce a human genetic %lue print. competition. 3ased on – a%ility to reproduce. Classical Genetics 1ean23aptise . Dar/inism <harles Dar/in 458&9258889 "rigin o# +pecies %y means o# Natural +election. Alleles = alternative #orms o# a gene. relatively #e/ #emale ova are #ertili!ed. Accurate predictions o# characteristics could %e made. variation.

<lassical Genetics * Mendel * 3asic la/s o# inheritance * <lassic pea plant e>periments * 0ure%red * Hy%rid * ?esults * @irst generation * +econd generation * Gene * Dominant * ?ecessive Rules of Classical Genetics * :raits 4genes9 are passed #rom parent to o##spring * mechanism un*no/n * * :/o genes #or each trait * "ne #rom each parent :here are dominant and recessive genes * Dominant e>pressed .

andersteiner B . <hromosomes. 59&5 Garrod /or*ed out that the human characteristic Al*aptonuria 4an in%orn error o# meta%olism9 is inherited.einer 2 rhesus antigen DNA and the Birth of Molecular Genetics .Genetic Mile2stones * 5866 @lemming o%served thread li*e structures in the nucleus o# the cell. * * * 59&A +utton B 3overi – #ound that the %ehaviour o# chromosomes during cell division provided a physical %asis #or the %ehaviour o# alleles 4as descri%ed %y Mendal9. .andersteiner – A3" %lood groups 597& .

1953 Watson & Crick – olecular structure of DNA .

Nucleotides! "he Buildin# Blocks of Nucleic Acids * Nucleotide * :hree molecules * +ugar * * DNA. ri%ose * 0hosphate ion * 3ase * * * * Adenine 4A9 Guanine 4G9 <ytosine 4<9 :hymine 4:9 DNA +tructure * * 1oin nucleotides * Alternating phosphate and sugar DNA * 8 strands o# nucleotides * 1oined %y %ase pairs * 3onding pattern * Adenine. deo>yri%ose ?NA.:hymine * <ytosine.Guanine .

Messenger ?NA 4m?NA9 :rans#er ?NA 4t?NA9 ?i%osomal ?NA 4t?NA9 ?NA +tructure * Di##erences * "ne string o# nucleotides * +ugar is ri%ose * :hymine replaced %y uracil * Cracil 4C9 %onds /ith adenine :he ?eplication o# DNA * * DNA replication * "ccurs %e#ore mitosis B meiosis 0rocess * DNA dou%le heli> splits * Ne/ %ases %ond to e>posed %ases * ?esult * :/o identical DNA strands .?i%onucleic Acid :hree di##erent *inds.

:ranscription o# DNA * :ranscription * Dn#ormation transport * Cses ?NA * 0rocess * Cn!ip DNA * ?NA %inds to e>posed %ases * ?NA moves out o# nucleus 4m?NA9 :he +ynthesis o# 0roteins * t?NA * ?eads message * +tructure * Amino acid * A %ases * 0rocess * m?NA moves to ri%osome * r?NA aligns m?NA and t?NA * t?NA matches codon on m?NA * Amino acid chain #orms * 3asis #or protein * * "ne gene codes #or one protein 0rotein drives chemical process in cell .

* DNA * Dntrons * E>ons * All living things on Earth use the same genetic code Mutations and DNA ?epair * Mutations * <hange in DNA o# parent * <auses * Nuclear radiation * F2rays * CG light * DNA ?epair * 5&.hy Are Genes E>pressedH * Gene control * :urning genes on and o## * Each cell contains same genes * Not all cells have same #unction * <ertain genes activated * +cientists currently studying ho/ .&&& (hits) per day * <ells repair damage .

8 %illion nucleotides o# the human genome. Mid/i#ery 0ractice. More than 99.&&& in the human genome. co2dominant or incomplete. Alleles are alternative #orms o# a gene E>pression can %e dominant. At least hal# o# the human genome consists o# repeated se'uences that do not code #or proteins 4so called ($un*)DNA9 Genes * * * * A%out A&. 599& – 8&&A se'uences nearly A. An average gene consists o# A&&& nucleotides.:he human Genome 0ro$ect. recessive. * * * * * Genetic counsellingIadvice +creening #or ris* Diagnostic tests Genetic Engineering Dn#ormed <hoice 0andora)s %o> o# ethical and moral dilemmas.9 o# the nucleotide %ases are identical in everyone. .