HUMAN GENOME PROJECT

Entire genetic make-up of an organism lies in its DNAs sequence of base pairs, which directly infers that individuals have differences in their DNA strands at least at some places!" #ith the establishment of genetic engineering techniques to isolate, clone and sequence any piece of DNA cheaply and fast, the $%& was launched in '(()" $uman genome n!* +"+ ,')( base pairs" -o store, retrieve and handle such voluminous data, a new area of biology known as .ioinformatics, which uses high speed computational devices and software were developed" $%&, the '+-year pro/ect, was coordinated by the 01 ENE2%3 DE&A2-4EN-, NA-56NA7 5N1-05-E 68 $EA7-$ and the #E77964E -201-"

GOALS of the HGP:

5dentify the :)))) app" $uman genes Determine the sequence of the +"+ ,')( base pairs" 1tore and analyse this data Address the E715 ethical, legal and social issues! arising from the pro/ect

Organisms with genome sequenced: .acteria 3east 9aenorhabditis elegans nematode worm! Drosophila fruit fly! 2ice Arabidopsis

METHODOLOGIES:
5dentify the genes e;pressed as 2NA E<&E11ED 1E=0EN9E -A%1- E1-s! 1equencing the entire genome introns and e;ons! and later allocating and assigning functions to different regions 1E=0EN9E ANN6-A-56N!

Due to the technical limitations of sequencing the entire DNA a very long polymer! as such at one go, it is first converted into random fragments of small si>es and cloned?amplified using vectors* .A9 and 3A9" -he fragments are then sequenced using 1angers DNA 1equencer" -he sequences are arranged and aligned based on overlapping regions using special computer programs"

RESULTS of HGP:
%enome has !"#$% & "'( base pairs (("(@ nucleotides is same in every human being 2epetitive sequences make up the ma/or bulk of the genome 7ess than :@ of genes code for proteins -otal number of genes* ')''' 9hromosome ' has most number of genes* *(#+ 9hromosome 3 has least number of genes* * " Average gene is composed of +))) basesA largest known gene is that of Dystrophin :"B million bases 8unctions of over C)@ discovered genes are unknown

SNPs are Copying Errors

Typos during DNA replication (during cell division) lead to variations in the DNA sequence at particular locations, called single nucleotide polymorphisms, or SNPs (pronounced "snips"). 5f more than '@ of a

population does not carry the same nucleotide at a specific position in the DNA sequence, then this variation can be classified as a 1N&" 1N&s occur normally throughout a persons DNA" -hey occur once in every +)) nucleotides on average, which means there are roughly ') million 1N&s in the human genome" The Consequences of SNPs 1N&s can generate biological variation between people by causing differences in the recipes for proteins that are written in genes" -hose differences can in turn influence a variety of traits such as appearance, disease susceptibility or response to drugs" 1N&s within genes directly affect the phenotypeA and those genes with 1N&s are called alleles" 4ost 1N&s occur in the non-coding sequences of DNA and do not cause any observable phenotypic characters" SNPs as a Measure of Genetic Similarity
DNA is passed from parent to child, so you inherit your SNPs versions from your parents. You will be a match with your siblings, grandparents, aunts, uncles, and cousins at many of these SNPs. But you will have far fewer matches with people to whom you are only distantly related. The number of SNPs where you match another person can therefore be used to tell how closely related you are.

SNPs to locate genes

4ost commonly, these variations are found in the DNA between genes" -hey can act as biological markers, helping scientists locate genes that are associated with disease" Although a particular 1N& may not cause a disorder, some 1N&s are associated with certain diseases" -hese associations allow scientists to look for 1N&s in order to evaluate an individualDs genetic predisposition to develop a disease" 5n addition, if certain 1N&s are known to be associated with a trait, then scientists may e;amine stretches of DNA near these 1N&s in an attempt to identify the gene or genes responsible for the trait"

DNA FINGERPRINTING- Alec Jeffreys

(("(@ of the human genome is same 5t is the difference in )"'@ i"e" + million base pairs that make every individual unique 1equencing the entire genome and comparing the + million base pairs of : individuals is impractical DNA fingerprinting involves identifying differences only in specific regions called repetitive DNA -hese repetitive DNA occur in satellite DNA and is separated from bulk DNA by density gradient centrifugation which gives small peaks for satellite DNA -hese mini?microsatellite DNAs are non-coding but shows high polymorphism which forms the basis of DNA fingerprinting Every tissue from an individual will have DNA with the same level of polymorphism &olymorphisms are inheritable from parents to children D,A -o./mor-hism is essentially 1N& (inheritable mutation that occurs in a population at high frequency-E'@! 1N&s accumulate generation after generation among these non coding pieces of DNA, thereby leaving these stretches with high degree of polymorphism" DNA polymorphism is not quite observed in vast amounts among coding gene! sequences because such mutations may often affect the survival?reproductive ability of the individual and gets severely checked in course of evolution" 0,T1s which come under mini2sate..ites are used in DNA fingerprinting .ands are made by the autoradiogram by the copy numbers of the tandem repeats

TIMELINE OFTHE HUMAN GENOME

1865 | Gregor Mendel, the father of modern genetics,

resents his research on e! eriments in lant h"#ridi$ation roteins, from cell n'cle's,

186% | &riedrich Miescher identifies acidic s'#stance(n'clein( )*NA +ith associated 1%5- | .osalind &ran/lin creates !0ra" diffraction 1hotogra h, sho+ing a distincti2e
helical sha e of *NA

attern that indicates the

1%53 | 4ames 5atson and &rancis 6ric/ disco2er the do'#le heli! str'ct're of *NA 1%61 | Genetic code crac/ed #" Marshall Niren#erg 1%77 | &rederic/ 8anger de2elo s *NA se9'encer

1%83 | &irst genetic disease ma 1%83 | ;n2ention of

ed: Huntingtons Disease

lif"ing *NA

ol"merase chain reaction )16., technolog" for am

1%8% | 6"stic &i#rosis gene m'tation identified 1%%< | The H'man Genome 1ro=ect >EG;N8 1%%5 | Haemo hil's infl'en$a:first #acterial genome se9'enced
8accharom"ces cer2isea: first e'/ar"ote genome

1%%8 | 6elera Genomics 6or

oration fo'nded for se9'encing the h'man genome

1%%% | 6hromosome --: first h'man chromosome to #e decoded

-<<< | fr'it fl" genome se9'enced

-<<1 | &irst draft of the h'man genome released -<<- | Mo'se: first mammalian genome decoded -<<3 | H'man Genome 1ro=ect 6OM1?ETE*