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.

Aimed to map the precise structure o# the entire human genome to produce a human genetic %lue print.

Classical Genetics 1ean23aptise ,amar* 45667258899 :heory;

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"rganisms ac'uire ne/ #eatures %ecause o# an inner need. :he ac'uired #eatures are inherited %y #uture generations.

Dar/inism <harles Dar/in 458&9258889 "rigin o# +pecies %y means o# Natural +election. 3ased on a%ility to reproduce, competition, some degree o# di##erential death occurs among gametes, relatively #e/ #emale ova are #ertili!ed, variation, survival o# the #ittest.

Mendel)s theory Mendal 45888258879

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Genes carried %y autosomes are inherited. Accurate predictions o# characteristics could %e made.

Genetic in#ormation could %e (hidden). Alleles = alternative #orms o# a gene.

<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

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:/o genes #or each trait

* "ne #rom each parent

:here are dominant and recessive genes

* Dominant e>pressed

Genetic Mile2stones

5866 @lemming o%served thread li*e structures in the nucleus o# the cell. <hromosomes.

59&5 Garrod /or*ed out that the human characteristic Al*aptonuria 4an in%orn error o# meta%olism9 is inherited.

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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& ,andersteiner B .einer 2 rhesus antigen

DNA and the Birth of Molecular Genetics

1953 Watson & Crick

olecular structure of DNA

Nucleotides! "he Buildin# Blocks of Nucleic Acids

Nucleotide

* :hree molecules
* +ugar
* *

DNA; deo>yri%ose ?NA; ri%ose

* 0hosphate ion * 3ase

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Adenine 4A9 Guanine 4G9 <ytosine 4<9 :hymine 4:9

DNA +tructure

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1oin nucleotides

* Alternating phosphate and sugar

DNA

* 8 strands o# nucleotides * 1oined %y %ase pairs

3onding pattern

* Adenine;:hymine * <ytosine;Guanine

?i%onucleic Acid :hree di##erent *inds; 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

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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

: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

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"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&,&&& (hits) per day * <ells repair damage

.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/

:he human Genome 0ro$ect. 599& 8&&A se'uences nearly A.8 %illion nucleotides o# the human genome. More than 99.9 o# the nucleotide %ases are identical in everyone.

At least hal# o# the human genome consists o# repeated se'uences that do not code #or proteins 4so called ($un*)DNA9

Genes

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A%out A&,&&& in the human genome. An average gene consists o# A&&& nucleotides. Alleles are alternative #orms o# a gene E>pression can %e dominant, recessive, co2dominant or incomplete.

Mid/i#ery 0ractice.

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Genetic counsellingIadvice +creening #or ris* Diagnostic tests Genetic Engineering Dn#ormed <hoice

0andora)s %o> o# ethical and moral dilemmas.