Application and importance of cytogenetics.pdf

CYTOGENETICS PRELIM - BMLS 2E DAVAO DOCTORS COLLEGE INC. PREPARED by LANCE, KEZZIAH RAPHA D. Lesson 2: Application & Importance of Cytogenetics Types: a. Abnormal Chromosome 1. D...

CYTOGENETICS PRELIM - BMLS 2E DAVAO DOCTORS COLLEGE INC. PREPARED by LANCE, KEZZIAH RAPHA D. Lesson 2: Application & Importance of Cytogenetics Types: a. Abnormal Chromosome 1. DNA PROFILING Number (aneuploidy) - Comparing of DNA sequences Monosomy - one copy (DNA fingering) missing one - Purpose: establish or rule out chromosomes identity, relationship, ancestry Trisomy - three copy of a - Forensic Science: collecting of chromosome physical evidence b. Abnormal Chromosome 2. CONNECTS PAST TO PRESENT Structure - Determining family relationship Ex: Turner Syndrome: - Establishing geographic Missing X Chromosome, origins of specific population the gender of that - DNA testing can provide views person is female but her into past epidemics of sexual characteristics infectious diseases by are a ected. detecting genes of the pathogens. 4. CANCER CYTOGENETICS - Ex.: Analysis of DNA in the - Chromosomal alterations & mummy of Egyptian King rearrangement that occur in Tutankhamun. Revealed DNA various type of cancers from microorganism that - Ex.: Philadelphia chromosome causes Malaria. in Chronic Myeloid Leukemia Specie: Plasmodium (CML) This happens due to an 3. CHROMOSOMAL ABNORMALITIES alteration of chromosome 9 & - Numerical changes 22; called TRANSLOCATION. (Aneuploidy) & structural - Acquired Cancer: due to abnormalities lifestyle, environmental factors - Help diagnose genetic and diet disorders: down syndrome, - Cancer: Abnormal turner syndrome, etc. Chromosomes - Prenatal Diagnosis: helps in detecting abnormalities in 5. CONSERVATION GENETICS developing fetuses - Way to rebuild population that (karyotyping & FISH) are headed toward species - Assisted Reproductive extinction Technologies (ARTS): various - Ex.: Northern White Rhinoceros medical procedures used of Africa primarily to address infertility Checking their chromosomes such as IVF ~> ensuring the for abnormalities. They did a genetic health of embryos cryopreservation. (chromosomal content) before implantation. CYTOGENETICS PRELIM - BMLS 2E DAVAO DOCTORS COLLEGE INC. PREPARED by LANCE, KEZZIAH RAPHA D. 6. GENETIC MODIFICATION APPLICATIONS IN METAGENOMICS: - Altering a gene/genome in a Bioremediation (studying microbial way that doesn’t occur in eliminating pollutants, Nature ~> genetically modified ex.: in oil spill, a certain bacteria with organism (GMOs) genes will be used so that it will eat - Arise from: recombinant DNA the oil) technology & genome editing Climate Change - Ex.: Green Mice: contain gene Agriculture (soil: microbial encoding a jellyfish green community) fluorescent protein Human Microbiome (organism Used to trace location of gene inhabiting organism) E.coli was put a gene of a Infectious Diseases (identifying human; due to diabetes & causative agents E.coli produced insulin - Ex.: Bacteria bearing human genes: provided many drugs (insulin & clothing factors) 7. PRECISION MEDICINE - Molecular mechanism underlying chromosomal abnormalities, gene expression & genomic stability. - Cure of some diseases - Pharmacogenetics: consults DNA information to select drugs that are most likely e ective & less side e ects. 8. EXOME SEQUENCING - Determines the order of the DNA bases of all part of the genome that encode protein - Can help diagnose rare genetic diseases/disorders by identifying mutations in the coding of genes. Metagenomics - study of genetic material recovered from environmental sample (soil, water, air, garbage) & host associated samples (human gut, skin, oral cavity) - This doesn’t need to be cultured