M.Sc.(N) Previous GCON Jodhpur fa 6 | "4 ANAMIKA RAMAWAT 2 ] y o \ i veINTRODUCTION Genetics is a field of biology that studies how traits are passed from parents to their offspring. The passing of traits from patents.to offspring is Known as heredity, therefore, genetics is the study of heredity, This introduction to genetics takes you through the basic components of genetics suchyas DNA, genes, chromosomes and genetic inheritance: Genetics is built around molecules called DNA. DNA molecules hold all the genetieinformation for an organism: It proyides cells with the information they need to perform tasks that allow,an organism to/grow, survive and reproduce. A gene is one particular section of a DNA molecule that‘tells a cell to perform one specific task, Heredity is what makes children look like their parents. During reproduction, DNA is replicated and passed from a parent to their offspring. This inheritance of genetic material by. offspring influences the appearance and behavior of the offspring. The.environment that an organism lives in can also influence how genes are expressed.IMPORTANCE OF STUDYING GENETCS + In the future, doctors and scientists-hope to use our genetic information to diagnose, treat, prevent and cure many illnesses. + Genes are instructionsywhich tell yourbody how tomake all the proteins it needs to survive and grow. By identifying each of these\proteins, scientists hope to better understand‘how your body works, and whatas\happening when it doesn’t work properly. They hope this knowledge will eventually:lead to more effective medicines and treatments. + From the use of DNA in court cases to the discovery of new therapies for genetic diseases, a thorough understanding of the human génome can have important medical, social and legal impacts. + Diseases and Treatments + Human History + Forensics and Legal Implications + Genetic EnhancementGENES ¢ Introduction: In 1865, Gregor Mendal was thefirst to describe the elements of heredity i.e, Genes.,His, observation and analysis of the observable features of Pea led him to conclude that specific traits were passed on unchanged from a parent plant to the next generation. * Definition: Gene is a Greek word which means ‘to become’ or ‘to grow into’. Genes, which aremade up of DNA, acts as RNA instructor to make molecules called Proteins. In humans, genes vary in size from a few hundred DNA bases to more than 2 million bases. Most of the genessare same in all people, but a small number of genes are slightly different between people.CHARACTRISTICS * Genes are the true carriers of heredity, responsible for the development and structure of human body«They, are the physical substances passed on from parent to child. The parent’s.genes, in turn, have come from their parents, grandparents, and’other more distant ancestors. * Some of the genes are dominant-.they, produce the trait in every generation. Other genes are recessive- produce trait that skips several generations. * Genes donot act alone; rather they are influented by the genetic background of an individual and by external and internal environment. + Each human.nucleated somatic cell has about 30,000 genes in the nucleus. Cells.also have some non-nuclear genes located within the mitochondria within the cytoplasm.Alternate forms of a gene are termed as alleles é (particular character). < For each gene. 4 indi es an» alle each parent reach gene on th ° W tosomes and also on the X chromosomes in | Homologous par of ‘chromosomes ‘Allele for short hair Locus for coat length gene Alle for longhair ‘Allele for white fur Locus for coat color gene ‘Allele for black furon the X chromosome. They, « are DNA Structure ioe Males have only one X chromosome and, ...... Fa therefore have only one allele for all ger : wen \ “——o 2 hemizygous for all X linked genes, © At any autosomalslocu 1e Site,an) al individual 8 (homozygou ‘locus, or caft/haye differ (heterozy, She 7 fata partieul us e.g. for eye color. if Ger refers tothe \constitution of gen material of an’ individual; for practical purpose it is commonly used to address spose ph Walt geene of sickle cell anemia, gene fo1 ¢ fibrosis ete. collCHROMOSOME Introduction & Structure: In the nucleus of each cell, the DNA molecule is packed into thread like structures called Chromosomes. Each _ chromosome is:made up of DNA tightly coiled many times around protein called histones that Support its structure. Chromosomes are not visible in the cell’s nucleus not even under a BREECH when the cell is not dividing. However, the DNA that makes up chromosomes become more tightly packed during cell division and is then visible under a microscope: Most of what researchers know about chromosome was learned by observing chromosomes during cell division.Each chromosome has constriction point called Centromere, which divides the chromosome into two sections or “arms”. The short arm. of chromosome.is labeledsthe “sp arm”. TheJong arm of chromosome is labeled the “q, arm”.The location of centromere on each ¢hromosome gives the chromosome its characteristic shape, and can be used to help describesthe location of the specific genes. One Chromosome ‘Two Identical Chromatids nels ane coy ofthe therand exch contains one DNA molecule arm short arm structure Centromere constricted point ofthe chromosome 4 arm ong arm structure DNA molecule ~long sting ike ONA rmolecue formed into acomgact structure by protein called histones,In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46. Twenty two of these pairs,called Autosomes look the same in both males and females. The 23 pair, the’Sex chromosomes, differs between males and females. Females have, two copies of the X chromosome, while males [email protected] and one, ¥ chromosome. > SeDNA: Deoxyribonucleic Acid * DNA is largely confined to the nucleus andsis the main component of the chromosomes. It is also,called nuclear DNA. Quantity: TheDNA content is fairly constant in all theeells of a given species. Just before cell division, the amount of DNA‘isdoubled. The gametes have half the amount of DNA as they contain half the number of chromosomes.Chemical Structure: Chemical structure of DNA was explained by P.A. Levene. DNA is the largest macromolecule in the,organisms. It is long .. double» ‘chain » of deoxyribonucleotide units. The two deoxyribonucleotide chains. are.twisted around a common axis to form a right-handed double helix (spiral)that encloses, a, cylindrical space in it. (DNA Structure 5 x ‘Sugar Phosphate ‘Backbone. Nitrogenous Major Groove Minor Groove|Each deoxyribonucleotide — unit consists of three different molecules Phosphate, a 5-Carbon deoxyribose sugar and a Nitrogenous base. The nitrogenous base may be’a 9- membered double ringed puriné 1.e. Adenine (A),or Guanine (G) ora 6-membered: single ringed pyrimidine ise. Thymine (T) /or Cytosine (C). The nitrogenous base molecules are joined to ‘sugar molecule’ at 1- Carbon. position by glycoside bonds and.projectsto space enclosed in the helix*at about.90 degree to-the long axis of the helix. DNA structure NucleotideNucleoside Phosphate Nucleotide _ i i* The two deoxyribonucleotid === Adenine chains are held together, BY hydrogen bonds. “ . Adenine — one i always on drogen bo lee e S. one | cl is = Phosphate ine of Cc Dacioohe ays linked to e y es other chain i three Ney die DNAWatson and Crick Model: J.D Watson, an American biologist & FH-C Crick, an English Chemist, in 1953 suggested a model of DNA molecule to explain its structure. This model got them the 1962 Nobel Prize. Ace: to Watson &)Crick, the DNA molecule consists of twolong, parallel chains (strands) which are joined together by short crossbars at regular intervals, The two-chains are spirally coiled around a common axis in a regular manner to-form a doubleshelix. The double helix is of constant-diameter. The bases)face the interior ofthe double helix where as the sugar and phosphate, components form backbones on the outside. The helix is generally right- handed, that is, the turns run clockwise looking along the helical‘axis.Sugar-Phosphate backbone (two; outside) Nitrogenous base-pairs (inside) A+T G+c Held together by hydrogen bonds (H-bonds) SS seSome Important PointsRegarding DNA: + Human DNA is double stranded helical'structure comprised of four different bases, the sequence of which codes, for the assembly of amino acids to make a protein e.g. .an enzyme. + These proteins are important for following reasons: + For body characteristics suchas eye color. + For biochemical processes such as the gefte for the enzyme that digests phenylalanine. *For body structure such as chromosome collagen gene important for bone formation. + For cellular functioning such as genes associated with cell cycle.* The four DNA bases are Adenine, Guanineg@ytosine, Thymine or AGTC. It is these four compounds ¢an-be arranged in countless sequences and it is the sequence in which are arranged;-which determines who and what we are. + Achange, or mutation, in the coding sequence, such as duplicated or deleted region or even/a change in only-one. base, can alter the production or functioning of thegenesor gene product, thus affecting cellular processes, growth & development. “DNA analysis can be doneon almost any bodyytissue (blood, muscle, skin) using molecular techniques (not visible under microscope) for mutation analysis of a specific gene with a known sequence for DNA linkage of genetic markers associated with a particular gene.eee ee, en HUMAN GENEME PROJECT fof DNASiiellding all of its information needed to build and py of the entire genome more ied in all cells that have a genes. Each genome contains maintain that organism. In humans,’ than 3 billion DNA base pairs ie nucleus.INTRODUCTION: i + The human genome project was an internafjgjal-research effort to determine the sequence of the human genome and identify the ge iL it contains. * The project was coordinated by then sof health and = US department of energy. Additional,centriputers: iS. }States and international partner et Radon, Franc Contin Zs i; China and India. * The human genomé project formally. bégadr#h' 1990 and was completed in 2003, 2 years ahead of its original schedule, aE + The work of the human genome projectliag’ blueprint for building a person. : . + As researcher learn about more the fun i nes and proteins, this knowledge will have a major impact in the fields of medigine; biotechnology and the life sciences. * The Human Genome Project, one of the mosttignificant research endeavors of the twentieth century deserves much of the efedit-forsthe discovery of these new applications of genetic information. Senencuut + Especially research from the HGP is providing @ new and better understanding of the enetic contribution to disease, the developtisent of targeted drug therapy andthe = —__ development of genetic tests that identifyth who may have or are at risk for genetic isease. as alloted researchers to begin to understand the reGOALS OF HOUMA GENOME PROJECT: * To identify all the gene: * To develop.a'gene 3 * To obtain aphiysical * To develop technology for ihe maiaigement of human genome information. * To know the function of sends * Determine the sequences of thi up human DNA. + Store this information in publ * Develop tools for data analysi: + Transfer related technologiesACCOMPLISHMENTS OF HUMAN GENOME PROJECE: = * In April 2003, researchers announced sat the human genome project had completed a habs i Sequelio’ OF oe ti man genome. This sequence ¢k ering Sr] jome, which has published in 2001/it ee een : i d ations of many Human genes and provided information about their st revand organization. The project made the sequence of the human genomerand-te sls to analyze the data freely available via the internet. ita : In addition to the human genome, 4 ‘the [uinan Genome Project sequenced the genomes of several other organism: cluding brewers’ yeast, the roundworm, and the fly. In 2002, researchers announted that they had also completed a working draft of the mouse genome. lying the similarities and differences between human genes and-those of other organisms, researchers can discover the functions of particular g and identify which genes are critical for life.MILESTONES: * 1986- The birth of the HGP. * 1990- Project initiated as National Insti I + 1994- Genetiprivacy Act: of DNA samples and genetic in * 1996- Welcome Trust joins th * 1998- Celera Genpmics (a privat : y founded by Craig Venter) formed to sequence much of the fit ipeetgenome in 3 yrs. * 1999- Completion of the sequenic romosome 22 the first human. chromosome to be sequenced. * 2000- Completion of the workin; * 2001- Analysis of the working dé * 2003- HGP sequencing is complete years ahead of schedule. Ueseerment of Energy and the Ps i ae wee proposed. ‘storage and use the entire human genome. jublished. and Project is declared finished twoSOCIAL ETHICAL, LEG IMPLICATIONS PROJECT: ns (ELSI) program was founded in Genome Project. ‘’dg-to identify and address issues d affect individuals, families, and * The ethical, legal and social in 1990 as an integral part of + The mission of the ELSI prog; raised by genomic research that society. + A percentage of the Human Gen Institute of Health and the US ELSI research. ‘oject budget at the National nt of Energy was devoted toThe ELSI program focused on the possible consequences of genomig:tésearch i in four main areas: ‘ Fairness in the use of genetic infotita ion’s. Privacy and confidentiali Psychologialijiipag sstitinnat Reproductive‘issues. - » 3 Clinical issues. Uncertainties associated with conditions. Fairness in access to advanced Conceptual and philosophical i Health and environmental issu‘ Commercialization of products. Education, Standards, and Quali Patent issues.OUTCOMES OF HEMAN GENOME PROJECT: Se * We now know that our genom eat i T bases- the molecules that help,make up the DNA code. An average- sized gene has about 3000 of bases, though some genes are smaller and some are much bigei Thé biggest known human gene, dystrophin, is made up of about illion bases. The human Genome Project also gave us sofite.detailed information about chromosomes. It turns out that ¢ \romosome 1 contains the most genes- 3168, while the Y chr ome has the fewest about 344. * Now we can imagine that these*smgall genes, chromosomes and DNA are how much helpful for human tiféiin all aspects of our health.Genomiel) {f/Prenatal Diagnostics | Diagnostics Grice Opener PTT TACT) Rone |e => (Predictive + * Personalised (Preventive Medicines: Physical Map of Guu enue OUTCOMES OF HGP Crud Characterisation of - DISC sn Genetic Defects {information Transfer Revolution in { Molecular Diagnotics Data Transfer t DatabaseSi. FUTURE PRESPEG@PIVE OF GENOMIC RESEARCH: Discovering:thé:s in understandlf@ he functioning human being. The to drive meaningful knowled; that build on the work of the worldwide. 8 BE Sire oe Ber oaglythe first step ioded in DNA lead to a ade of genomic research will begin the DNA sequence research studies ‘géhome project are under wayThe objectives of continued genomic research include thé following: * Determine the function of genes and thi nts that regulate genes throughout the genome, : ¢ ‘duh. determing their significance. prow Bot ambealsease Sok and Ons. ee POE + Find variations in.the,DNA. These variations mag fie response to certaitme ; Le * Discover the 3-dimensional structures OBR ‘ifs and identify their functions. + Explore how DNA and proteins. interadt Withee another and with the environment to create complex living systems. oy © + Develop and apply genome-based strat treatment of disease. * Sequence the genomes of other organisms, #8¢h as the rat, cow and chimpanzee, in order to compare similar genes between spe *S * Develop new technologies to study get * store genomic data efficiently. + Continue to explore the ethical, legal and: st . i : ir the early detections, diagnosis and INA on a large scale and issues raised by genomic research,Sih Bears: Finally, human genome project < ch will help solve one of the greatest mysteries of life how dose tbe ferlized egg “know” to give rise to so mani different t spec izett vel l faba as those.making up bigot Sat Boetaman being or or gene or set’of genes must dy at exactly the right movement iby the human genome project choreographed into the wide varigt t a human being. getSUMMARY 8 mB esata one * Genetics is’ ‘te Sttidy. Dicks a These'tt: re coded for in genes, which are parts of chris. ys + An Allele is a variant of a gen: These can be dominant or recessive, and these are the basis of inher ts, both structural and behavioral.* As we all know that human body is de from a small atom i.e., Body cell which further group to form tissues: n.ending with an beautiful structure thats.c call * Body Cell Body * In same way the small atom i. ef components which are actual the person’s characteristics(PI diseases etc.) which contains very important of an individual life which specify . ‘hese gene, chromosomes and deformity in the fetus.BIBLIOGRAPHY é * Sharma Kumar Surshel Brothers, pp-1-4, * Dhami P.S, Shri Publications, pp" * Howkins & Bourne “Shaws Textbook ot ee Ed 13", Published by Elsevier, pp- 93,71,265-268. anes eet BY u i Net Source: * https://www.medicalnewstoday.com, © https://www.genome.gov/12011238/api ew-of-the-human-genome-project, * http://whoami.sciencemuseum.org. ly veri findoutmore/yourgenes/howdogenesaf fectyourhealth/whyisstudyinggenetic: ta * https://sciencing.com/importance-studyifigehuman-dna-genetics-2334.html