← Human Genetic Disorders and DNA Structure Export Options Alphabetize Word-Def Delimiter Tab Comma Custom Def-Word Delimiter New Line Semicolon Custom Data Copy and paste the text below. It is read-only. Select All What is a Karyotype A map picture of all chromosomes matched in pairs What are the three features used to read chromosomes size,banding,and centromere position Once Karyotype is done look for too many too few chromosomes, missing pieces of chromosomes,mixed up pieces of chromosomes What is amniocentisis is a technique by which a small amount of fluid that surroundes a developing baby is removed to see if the baby will have a genetic disorder What are chromosomal abnormalities entire chromosomes or large segments are missing,duplicated, or altered what is nondiscunjunction caused when sex cells do not seperate during meiosis they remain joined when this happens body cells inherit either extra or fewer chromosomes than normal what are two examples of Nondiscunjunction Down Syndrome, Huntingtons disease What is Down syndrome an extra chromosome on the 21st pair.People with it have very distinct facial features, a flat face, a small broad nose, abnormally shaped ears a large tongue and upwards slanting eyes with small folds of skin in the corners what is huntington's disease a brain disorder that affects a persons ability to think talk and move Tay Sachs They lack the protein that dissolves fat in the brain Sickle Cell Amnemia Production of hemoglobin which carries oxygen which carries oxygen in blood is affected. The blood cells are shaped like and clog up occurs more in middle aged african american men what is a single gene disorder a result of a mutation causes the protein product of a single gene to be missing or altered Cystic fibrosis Body produces abnormally thick mucus in lungs and intestines marfan syndrome connective tissue disorder people have elongated body What is an example of a sex linked trait hemophilia hemophilia sex-linked recessive disorder defined by the absence of one or more proteins required for blood clotting Multifactorial disorders result from mutation in multiple genes in addition to enviromental disorders Examples of Multifactorial disorders Cancer, Breast Cancer, Alzheimer's disease what are mitochondrial disorders farely rare disorders caused by mutations in non-chromosomal disorders selective breeding The process of selecting a few organisms with desired traits to serve as parents of the next generation two types of selective breeding Inbreeeding and Hybridization What is inbreeding A selective breeding method in which two individuals with identical or similar sets are crossed what is hybridization A selective breeding method in which 2 genetically different individuals are crossed what is genetic engineering The transfer of a gene from the DNA of one organism into another organism in order to produce an organism with desired traits what is cloning an identical duplicate of an organism produced by replacing nucleus of an unfertilized egg with nucleus of a body cell from organism Gene Therapy An experimental field of medical research in which defective genes are replaced by healthy ones DNA Fingerprinting Frequently used in criminal investigations DNA is seperated into fragments chemically treated picture shows dark bands known as a DNA fingerprint compare to the crime scene Newborn Genetic Screening A health program that identifies treatable genetic disorders in Early intervention to treat or eliminate these disorders can eliminate or reduce symptoms that might otherwise cause a life time of disability Stem Cell Research Cells with the ability to divide for indefinite periods in culture and to give rise to specialized cells Epigenetics A rapidly growing research field that investigates heritable alterations in gene expression caused by mechanisms other than changes in DNA Sequence Carrier A person with one recessive and one dominant allele for a trait Genome All the DNA in one cell of the organism Pedigree A chart that tracks which family members have a certain trait What was the goal of the Human Genome project To identify the DNA sequence of every gene in the human genome In DNA what does Adenine bond with Thymine A-T connects with a double hydrogon bond C-G connects with a triple hydrogon bond In DNA what does Cytosine bond with Guanine What was Chargoff's rule that Adenine bonded with Thymine and Cytosine bonds with Guanine Who discovered DNA Watson and Crick What year did Watson and Crick discover DNA 1953 What is the actual DNA name Deoxyribonuleiec Acid what is the shape of DNA Double Helix (twisted ladder) What are the four subunits of DNA called nucleotides Each nucleotide consists of a sugar, a phosphate, and a base Why can DNA be copied cause one strand of the molecule serves as a template fro the other side What is the first step of protein synthesis DNA provides code to form messenger RNA Second step of protein synthesis Messenger RNA attaches to the ribosome 3d step of protein synthesis Transfer RNA reads messenger RNA 4th step of protein synthesis Amino acids are added to the growing protein what is mRNA Copies coded message from DNA in Nucleus and carries the message to the ribosome in nucleus what is tRNA Carries Amino Acids to ribosome and adds them to the growing protein How is DNA read From left to right Each three base group of nitrogen bases is called what a codon What are proteins made up of long strands of amino acids Proteins do what Act as chemical messengers that determine your traits Proteins are the reason for multitude of shapes sizes and colors The order of nitrogen bases along a gene affects what the type of protein you will have Transfer RNA matches up with Messenger RNA at ribosome to deliver correct amino acid to growing protein chain Transfer RNA has a three base code called an anticodon What is the complete set of instructions for making an organism called a genome What year was the Human Genome project completed in 2003 What are the benefits to the Human Genome project Can lead to revolutionary ways to diagnose treat and someday prevent the thousands of disorders that affect us Drawbacks to HGP Misuses of genetic data in workplaces schools and courts as well as other ethical issues What is deletion if a base is left out what is insertion an extra base is added what is substitution an incorrect base replaces a correct base