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Gene expression is controlled by a number of features + Human Genome Project

The Human Genome Project

human genome project

Human Genome Project (HGP) Study Flashcards

biology 2.1Unit 2.1: Mitosis and Meiosis Introduction By the end of this section, you should be able to: Define a chromosome. Define DNA as the genetic material. Define genes. Describe the structure of chromosomes. Describe the components of DNA. Define mitosis and describe its stages. Define meiosis and describe its stages. Relate the events of meiosis to the formation of sex cells. Compare mitosis and meiosis. Chromosomes, Genes, and DNA Almost all the cells of your body—except for mature red blood cells—contain a nucleus, which acts as the control center of the cell. The nucleus holds all the information needed to make a new cell and, ultimately, a new individual. Inside the nucleus are chromosomes, thread-like structures that store genetic information passed from parents to offspring. Chromosomes are made up of DNA (deoxyribonucleic acid), a molecule that carries the instructions needed to make all the proteins in your body. Many of these proteins are enzymes, which control the production of other chemicals and affect everything about how your body functions. Each species has a specific number of chromosomes: Humans have 46 chromosomes (23 pairs). Tomatoes have 24 chromosomes (12 pairs). Elephants have 56 chromosomes (28 pairs). Half of your chromosomes come from your mother, and the other half from your father. These chromosomes are arranged in homologous pairs, meaning they contain matching sets of genes. A karyotype is a special photograph that arranges chromosomes into their pairs. In humans, 22 pairs of chromosomes are called autosomes, which control most body functions. The 23rd pair is the sex chromosomes, which determine whether you are male or female: Females have two X chromosomes (XX). Males have one X and one Y chromosome (XY). DNA Structure DNA is a long, twisted molecule shaped like a double helix (a spiraled ladder). Each strand of DNA is made up of smaller molecules called nucleotides, which consist of: A phosphate group A sugar (deoxyribose) A nitrogen base The four nitrogen bases in DNA are: Adenine (A) → Always pairs with Thymine (T) Cytosine (C) → Always pairs with Guanine (G) Genes are small segments of DNA that carry instructions for making proteins. The sequence of these bases acts like a biological code, directing the cell to create specific proteins. In 1953, James Watson and Francis Crick, using data from Rosalind Franklin’s X-ray photographs, discovered the double-helix structure of DNA. Their discovery led to a huge increase in genetic research, including the Human Genome Project, which mapped all human genes. Mitosis (Cell Division for Growth and Repair) All body cells (somatic cells) divide using mitosis, a type of cell division that creates two identical daughter cells. Mitosis is essential for: Growth (producing new cells). Tissue repair (replacing damaged or old cells). Asexual reproduction (producing offspring with identical DNA). Stages of Mitosis Interphase The cell prepares for division by copying its DNA. Chromosomes are not visible under a microscope. Prophase Chromosomes condense and become visible. The nuclear membrane breaks down. Metaphase Chromosomes line up in the center of the cell. Spindle fibers attach to each chromosome. Anaphase The spindle fibers pull the sister chromatids apart to opposite ends of the cell. Telophase A new nuclear membrane forms around each set of chromosomes. The cell is almost ready to split. Cytokinesis The cytoplasm divides, forming two identical daughter cells. Mitosis is constantly occurring in areas like your skin and bone marrow, where new cells are needed regularly. Meiosis (Cell Division for Reproduction) Unlike mitosis, meiosis occurs only in the reproductive organs (testes in males, ovaries in females) and produces gametes (sperm and egg cells). Gametes have half the number of chromosomes (haploid, n=23) so that when fertilization occurs, the new cell has the correct chromosome number (diploid, 2n=46). Stages of Meiosis Meiosis consists of two rounds of cell division, resulting in four non-identical cells. Meiosis I: Prophase I – Chromosomes pair up and exchange genetic material (crossing over). Metaphase I – Chromosome pairs line up in the center of the cell. Anaphase I – Chromosome pairs separate and move to opposite ends of the cell. Telophase I & Cytokinesis – The cell splits into two haploid daughter cells. Meiosis II (similar to mitosis): 5. Prophase II – Chromosomes condense again. 6. Metaphase II – Chromosomes line up in the center. 7. Anaphase II – Sister chromatids separate and move to opposite sides. 8. Telophase II & Cytokinesis – Four unique haploid gametes are formed. Each gamete is genetically different due to crossing over and random chromosome distribution. Mitosis vs. Meiosis: Key Differences Importance of Mitosis and Meiosis Mitosis ensures that cells grow, repair damage, and replace old cells. Meiosis allows genetic diversity, which is essential for evolution and survival. Summary Chromosomes carry genetic information in the form of DNA. Genes are sections of DNA that code for proteins. Mitosis produces two identical daughter cells for growth and repair. Meiosis creates four non-identical sex cells for reproduction. Mitosis ensures genetic stability, while meiosis introduces genetic diversity

Lecture 6: The Promise of the Human Genome Project

LESSON 5: Principles of Normal Development in Infancy and Early Childhoodand The Human Genome Project

Human Genome Project

Informatics-study of best practices in information accrual, handling, dissemination and comprehension using technology. Pharmacy informatics: -Deals with subset of informatics relevant to pharmacy practice. -new technologies lead to safer and more effective medication use. Intersects with: 1. Medical Informatics-problem solving and decision making 2. Bioinformatics-started from human genome project -aim of understanding the biologic significance of a variety of data. Information and Technology Skills 1. Drug information 2. Patient information Drug Information Provision -one of the essential roles of pharmacists -DRUG INFORMATION-to convey the management and use of information on medication therapy to: 1. Patient specific, as an integral part of pharmaceutical care 2. Relative to a group of patients such as in the development of a therapeutic guideline, publishing an electronic newsletter or updating a website -Types of information: 1.verbal​​2. written Objects Relevant to Pharmacy subjects: ● Pharmacology ● Pharmacokinetics and Biopharmaceutics ● Dosage forms ● Pharmacotherapeutics ● Drug and disease management ● Clinical pharmacy Type of information sources 1. Magazine-collection of articles and images about diverse topics of popular interest and current events -usually written by journalists or scholars -uses: to find information or opinion 2. Academic Journal-collection of articles usually written by scholars in an academic/professional field. 3. Data base-contains citations of articles in magazines, journals… 4. Newspaper-collection of articles about current events usually published daily 5. Library catalog-organized and searchable collection of records 6. Books-cover virtually any topic, fact or fiction 7. Website-allows you to access ​​Ex: PubMed-NCBI, Medline Plus, Orange Book, International Pharmaceutical Abstracts (IPA), TOXNET, rxlist, druginfonet.com, Lexi.com, Medscape, WebMD, GlobalRPH 8. Encyclopedia-contains short, factual entries Types of Literature: 1. Primary Source -original materials​​ ​​-authored by researchers, contains original research data, and is usually published in a peer-reviewed journal. ​​-ex: conference papers, pre-prints, and preliminary reports 2. Secondary Source -opinions, interpretations and evaluations that are derived from or refer to the primary source. ​​​​-ex: journal article, book about diaries, magazine article 3. Tertiary source -distillation and collection of primary and secondary sources such as textbook, data base, encyclopedia Evaluating Information Resources I. Initial Appraisal II. Content Analysis I. Initial Appraisal A. Author B. Date of Publication C. Edition or revision D. Publisher E. Title of the journal A. Author 1. Author’s credentials 2. Has your instructors/professors mentioned this author? 3. Is the author associated with a reputable institution or organization? B. Date of Publication 1. When was the source published? 2. Is the source current or out-of-date for your topic? C. Edition or Revision *many printings or editions may indicate that the work has become a standard source in the area D. Publisher -Note the publisher. If the source is published by a university press, it is likely to be scholarly. E. Title of the journal -Is this a scholarly or a popular journal? II. Content Analysis A. Intended audience -What type of audience is the author addressing? -Is the publication aimed at a specialized or a general audience? B. Objective reasoning -Is the information covered fact, opinion or propaganda? C. Coverage -Does the work update other sources, substantiate other materials you have read, or add new information? -Is the material primary or secondary in nature? D. Writing Style -Is the publication organized logically? E. Evaluative Reviews -Locate critical reviews of books in a reviewing source, such as book review, index, book review digest, or periodical abstracts Types of Medical Articles 1. Original scientific research 2. Reviews (Scientific, meta-analysis) 3. Short (rapid) communications 4. Case reports 5. Clinical photographs 6. Letters to the editor 7. “How I do it” STEP 1: -Asses if the article is relevant. STEP 2: -What type of study is it? ​*Descriptive studies (mean, median, mode) ​*Inferential studies (hypothesis) ​*Therapeutic studies (results of treatment) ​*Prognostic studies (outcome of the disease) ​*Diagnostic studies (investigate diagnostic test) ​*Economic an decision analysis STEP 3: -What is the intervention? (dependent, independent, confounding variables) STEP 4: -Who are the subjects? STEP 5: -Is the study internally valid? Aka Do I believe the study? ​​Levels of Evidence: ​​Level 1: Randomized controlled trial ​​​​​*cohort-group of subjects followed forward in time ​​​​​*Case controlled studies- select a group of subjects with a condition ​​​​​*Case series and reports- has a high probability for bias; focuses on the existing case Mo

genomics and the human genome project

Human Genome Project

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Human genome project

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Human genome project

Mutations and The Human Genome Project

HUMAN GENOME PROJECT