• 1:10000 live births
• Multiple malformations like in lower jaw, fingers, skull, face and feet
• Cardiac malformations
• Can’t live for more than 3-4 months

• These males have tall and masculine stature with feminine characteristics
• Development of breasts (gynecomastia)
• Sterile
• Small testicles, high-pitched voice and sparse body hairs
• Mental retardation

• 1:5000 live births
• Only viable monosomy in humans
• Sterile females with short stature
• Breasts and ovaries are underdeveloped, thin and less pubic hairs

• 1:1000 live births
• They are called super females
• Mild development delays and menstrual irregularities

• Males with an unusual height
• Severe acne
• Below normal intelligence

DEOXYRIBONUCLEIC ACID (DNA):

• DNA is an organic chemical that contains genetic information and instructions for protein synthesis.
• DNAis a key part of reproduction in which genetic heredity passed down through DNA from parents to offspring.

RIBONUCLEIC ACID (RNA):

• RNA is a nucleic acid principally involved in the synthesis of proteins, carrying the messenger (ex: mRNA) instructions from DNA, which itself contains the genetic instruction

DIFFERENCES BETWEEN DNA AND RNA:

CELL

• A Cell is defined as smallest, basic unit of life responsible for all life’s processes.
• Robert Hooke coined the term Cell in 1665.
• Cells provide structure and support to the body of an organism.
• Cells are of 2 types namely, Prokaryotes & Eukaryotes.

STRUCTURE OF A CELL

A cell consists of three parts:

1. The cell membrane
2. The nucleus, and, between the two,
3. The cytoplasm.

Organelle and its Function:

NOTE: Organelles are found only in plant cells.

PLASTID:

• Plastid is a double membrane-bound organelle involved in the synthesis and storage of food.
• Commonly found within the cells of photosynthetic plants.
• It is of 3 types: Chloroplasts, Chromoplast & Leucoplast.
• Chloroplasts: These are green pigments found in green plant involve in photosynthesis.
• Chromoplast provides various colors to the plant like flower, fruit etc. For example, Carotene provide orange color for Carrot & Lycopene in tomato provide red color.
• Leucoplast is colorless. It stores the food in the form of starch, fat & protein.

NOTE: Plastids were discovered and named by Ernst Haeckel, but A. F. W. Schimper was the first to provide a clear definition.

CELL WALL:

• A cell wall is an outer layer surrounding certain cells that is outside of the cell membrane.
• All cells have cell membranes, but generally only plants, fungi, algae, most bacteria, and archaea have cells with cell wall
• The cell wall provides strength and structural support to the cell.

NOTE: Chitin a polysaccharide that is a main component of fungal cell walls and also of the exoskeletons of certain animals like insects.

DIFFERENCE BETWEEN PLANT AND ANIMAL CELL:

STEM CELLS:

• The smallest functional unit of life is called the Cell.
• These cells develop to form tissues which in turn develop to form organs.
• Stem cells are basically undifferentiated, primitive cells which have the potential to develop into many different types of cells like those in muscles, kidney, liver etc.
• Stem cell therapy has shown potential to cure many severe ailments. It is touted as future of medical treatments.
• They have proved effective in the treatment of blood disorders, immune disorders, metabolic problems, & other organ degenerated diseases.

Growing Human Organs in Animal Body:

Recently Japanese researchers have successfully developed functional mouse kidneys inside rats using stem cells. This could be replicated in Humans.

Source of Stem Cells:

• Bone marrow, Umbilical cord blood, Adipose tissue, Allografts, Amniotic fluid etc.
• Based on Source: Types of stem Cells:

1. 1. Embryonic Stem Cells (ESCs)
   2. Adult/Somatic stem cells

Adult stem cells include:

• Hematopoietic Stem cells (HSCs), Mesenchymal Stem Cells, Neural stem cells, Epithelial Stem cells, Skin stem cells, Induced pluripotent stem cells.
• Induced pluripotent stem cells (iPS): Scientists create these in a lab, using skin cells and other tissue-specific cells. These cells behave in a similar way to embryonic stem cells, so they could be useful for developing a range of therapies.
• These cells derived from the patient themselves, so less likely to be rejected.

Cell Potency:

• Refers to the varying ability of stem cells to differentiate into specialized cell types.
• Cells with greatest potency can generate more cells types than lower potency cell.

Hierarchy of Cell Potency:

• Totipotent Stem Cells: Stem cells can give rise to any of 220 cell types found in embryo as well as extra-embryonic cells(placenta).
• Pluripotent Stem Cells: can give rise to all cell types of body (but not the placenta).
• Multipotent Stem Cells: can develop limited number of cell types in a particular lineage.
• Unipotent Stem Cells: give rise to cells of their own type along a single lineage.

DNA Profiling:

• DNA profiling is the process where a specific DNA pattern, called a profile, is obtained from a person or sample of bodily tissue.
• It is a forensic technique in criminal investigations, comparing criminal suspects’ profiles to DNAevidence so as to assess the likelihood of their involvement in the crime.
• It is also used in parentage testing, to establish immigration eligibility, and in genealogical and medical research.

Short Tandem Repeats (STRs):

• One of the current techniques for DNA profiling uses polymorphisms called STRs.
• These are regions of non-coding DNA that contain repeats of the same nucleotide sequence. Ex: GATAGATA

Genetic Disorders

• A genetic disorder is a disease that is caused by a change, or mutation, in an individual’s DNA sequence.
• These mutations can be due to an error in DNA replication or due to environmental factors, such as cigarette smoke & exposure to radiation, which cause changes in the DNA sequence.
• The three main categories are:

1. 1. Single gene disorders:disorders caused by defects in one particular gene, often with simple and predictable inheritance patterns. Ex: Huntington’s disease, Cystic fibrosis.
   2. Chromosome disorders:disorders resulting from changes in the number or structure of the chromosomes. Ex: Down’s syndrome, which results from an extra chromosome 21.
   3. Multifactorial disorders (complex diseases):disorders caused by changes in multiple genes, often in a complex interaction with environmental & lifestyle factors such as diet or cigarette smoke. Ex:

Gene Therapy

• Technique to replace defective genes with healthy genes to treat genetic disorders.
• Artificial method that introduces DNA into the cells of human body.
• First developed in 1972, but has limited success.
• Two types of gene therapy: Somatic gene therapy, Germline gene therapy.

Gene Editing:

• Gene editing is a technique of making specific changes to the DNA at a specific sequence.
• For this DNA is inserted, deleted, modified or replaced in the genome.
• For this CRISPR CAS9 Scissor is used.
• It involves making cuts at specific DNA sequences with enzymes called ‘engineered nucleases’.

How does genome edit work?

• Genome editing uses a type of enzyme called an ‘engineered nuclease’ which cuts the genome in a specific place.
• Engineered nucleases are made up of two parts:

1. 1. A nuclease part that cuts the DNA.
   2. A DNA-targeting part that is designed to guide the nuclease to a specific sequence of DNA.

• After cutting the DNA in a specific place, the cell will naturally repair the cut. We can manipulate this repair process to make changes (or ‘edits’) to the DNA in that location in the genome.

CRISPR-Cas9:

• CRISPR stands for ‘Clustered Regularly Interspaced Short Palindromic Repeats’
• It is the most common, cheap & efficient system used for genome editing.
• CRISPR is the DNA-targeting part of the system which consists of an RNAmolecule, or ‘guide’, designed to bind to specific DNA bases through complementary base-pairing.
• Cas9 stands for CRISPR- associated protein 9, & is the nuclease part that cuts the DNA.
• The CRISPR-Cas9 system was originally discovered in Bacteria that use this system to destroy invading

Recombinant-DNA (R-DNA) Technology:

• R-DNA is a “genetic engineering” technology used for producing Artificial DNA through the combination of different genetic materials from different sources.
• R-DNA involves several steps in specific sequence such as:

1. Isolation of DNA,
2. Fragmentation of DNA,
3. Isolation of a desired DNA fragment,
4. Ligation of the DNA fragment into a vector,
5. Transferring the R-DNA into the host,
6. Culturing the host cells and extraction of desired product.

Application:

1. In Gene Therapy to correct gene defects.
2. Useful in detecting presence of Human immunodeficiency virus. (ELISA test)
3. Production of Insulin.

Mitochondrial DNA:

• In addition to DNA in the nucleus, some DNA is also present in the mitochondria.
• During fertilization the nuclear DNA is formed with 46 chromosomes (i.e., 23 from mother & 23 chromosomes from the father).
• The Mitochondrial DNA has only one chromosome and its codes for only specific proteins responsible for metabolism.
• Mitochondrial DNA is inherited only from the mother & thus it is more effective to trace human ancestry.

THREE PARENT BABY

• Three-parent baby, human offspring produced from the genetic material of one man &two women through the use of assisted reproductive technologies, specifically mitochondrial manipulation (or replacement) technologies & three-person in vitro fertilization (IVF).
• This mechanism involves the replacement of a small amount of faulty DNA in a mother’s egg with healthy DNA from a second woman.
• The idea is to prohibit certain genetic diseases being passed on to children.

Embryo Transfer Technology:

• Embryo transfer refers to a step in the process of assisted reproduction in which embryos are placed into the uterus of a female with the intent to establish a pregnancy.
• This technique (which is often used in connection with ‘In vitro fertilization’ (IVF)), may be used in humans or in animals, in which situations the goals may vary.
• First performed in 1984.
• Factors that can affect the success of embryo transfer:

1. 1. Endometrial receptivity,
   2. Embryo quality and
   3. Embryo transfer technique.

GM Mosquitoes (GMMs):

• GMMs are mosquitoes that have been implanted with a gene or bacteria which was not originally present or naturally occurring in the insect.
• Why GMMs?
• Each year, more than 700 000 people die from vector-borne diseases (VBDs) such as malaria, dengue, yellow fever, Zika virus etc.,
• Hence, there is an urgent need for new tools to combat
• What does it do?
• GMM approaches aimed at suppressing mosquito populations &reducing their susceptibility to infection, as well as their ability to transmit disease-carrying pathogens.
• The WHO stand on GMMs:
• According to the WHO statement, GMMs could be a valuable new tool in efforts to eliminate malaria & to control diseases carried by Aedes
• WHO cautions, however, that the use of GMMs raises concerns& questions around ethics, safety, governance, affordability & cost–effectiveness that must addressed.

Human Genome Project (HGP)

• HGP was the international, collaborative research program whose goal was the complete mapping and understanding of genome (all the genes) of human beings.
• This was first articulated in 1988 by a special committee of the S. National Academy of Sciences

HGP findings:

• HGP was began in 1990& completed in 2003.
• It led to the decoding of the entire human genome by sequencing & mapping all of the genes of humans.
• The HGP gave us the ability, for the first time, to read nature’s complete genetic blueprintfor building a human being.

Benefits:

• Can help us better understand diseases to direct appropriate treatment
• More accurate prediction of their effects
• Advancement in forensic applied sciences etc.

Genome India Project (GIP)

• It is aimed at studying the diversity of Indians and its impact on lifestyle, environment & genes that is inherited.
• GIP also called, ‘Bioscience Mission for Precision Health & Optimal Well-being’.
• GIP is a combined initiative of Ministry of Health and Family Welfare, Department of Health Research &Department of Biotechnology.
• Nodal point: the IISc’s Centre for Brain Research.
• The first stage of the project will look at samples of “10,000 persons from all over the country” to form a “grid” that will enable the development of a “reference genome”.

The Cancer Genome Atlas (TCGA):

• Landmark cancer genomics program, characterized over 20000 primary cancer and matched samples spanning 33 cancer types.
• Minister of Science and Technology inaugurated the 2nd TCGA 2020 conference in New Delhi.

Cloning: Cloning is the process of producing individuals with identical or virtually identical DNA, either naturally or artificially.

GM Crops & associated issues

• Genetically Modified (GM) Seeds: Genetic engineering aims to transcend the genus barrier by introducing an alien gene in the seeds to get the desired effects. The alien gene could be from a plant, an animal or even a soil bacterium.
• Genetic modification is done in GM crops to confer a particular trait with one of the following properties:
• Increased yield of a crop
• Increased nutritional content of a crop
• Developing resistance to:

1. Abiotic factors like temperature, salinity or herbicide resistant
2. Biotic factors like insects

GM Crops in India:

• Bt cotton, it has two alien genes from the soil bacterium Bacillus thuringiensis (Bt) that allows the crop to develop a protein toxic to the common pest pink bollworm.
• Ht-Bt (Herbicide Resistant) Cotton is derived with the insertion of an additional gene, from another soil bacterium, which allows the plant to resist the common herbicide glyphosate.
• In Bt brinjal, a gene allows the plant to resist attacks of fruit & shoot borer.
• In DMH-11 Mustard, genetic modification allows cross-pollination in a crop that self-pollinates in nature.
• Across the world, GM variants of maize, canola &soyabean, too, are available.
• Bt Cotton is the only GM crop that is allowed in India from 2002.
• Ht-Bt Cotton is not allowed to be cultivated in India.
• Bt Brinjal is under an indefinite moratorium on commercial cultivation since 2010 in India.

Biotechnology in India:

• The remarkable march of India into the world of biosciences and technological advances began in 1986. (Mr. Rajiv Gandhi period)
• In 1986, a separate Department for Biotechnology, within the Ministry of Science & Technology, GoI was created.
• Vision: “Attaining new heights in biotechnology research, shaping biotechnology into a premier precision tool of the future for creation of wealth & ensuring social justice especially for the welfare of the poor.”
• BT has made a huge impact on Indian agriculture, healthcare, industry and environment on one hand, while raising global standing of India.
• The National Biotechnology Development Strategy (2015-2020) aims to make India a US$ 100bn Bio-economy by 2025.

BIO-Technology Kisan programme:

• Farmer-centric scheme, by DBT Ministry of Science & Technology.
• Pan India program to stimulates entrepreneurship and innovation in farmers and empowers women farmers.
• Aims to understands the problems and provide simple solutions to farmers.

Bio-economy or bio-techonomy:

• It refers to all economic activity derived from scientific & research activity focused on biotechnology.
• It is closely linked to the evolution of the biotechnology industry.

Major initiatives of the National Biotechnology Development Strategy

• Launch four major missions in Healthcare, Food & Nutrition, Clean Energy and Education.
• Create a technology development & translation network across India with global partnership.
• Ensure strategic & focused investment in building the human capital by setting up a Life Sciences & Biotechnology Education Council.

Biotechnology Regulatory Authority of India (BRAI)

• BRAI is a proposed regulatory body to regulate the use of Genetically Modified Organisms (GMOs), as per the provisions of the Bill introduced in the Parliament in 2013.
• BRAI was needed as India had signed the Cartagena Protocol and the Protocol mandates setting up of a Regulatory Body.