* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
Download IV. Diagnosing Gene Disorders
Epigenomics wikipedia , lookup
Human genome wikipedia , lookup
Cancer epigenetics wikipedia , lookup
DNA damage theory of aging wikipedia , lookup
Molecular cloning wikipedia , lookup
Genome evolution wikipedia , lookup
Nucleic acid analogue wikipedia , lookup
Genomic library wikipedia , lookup
Deoxyribozyme wikipedia , lookup
Comparative genomic hybridization wikipedia , lookup
DNA vaccination wikipedia , lookup
Non-coding DNA wikipedia , lookup
No-SCAR (Scarless Cas9 Assisted Recombineering) Genome Editing wikipedia , lookup
Gene expression programming wikipedia , lookup
Genomic imprinting wikipedia , lookup
Cre-Lox recombination wikipedia , lookup
Saethre–Chotzen syndrome wikipedia , lookup
Skewed X-inactivation wikipedia , lookup
Nutriepigenomics wikipedia , lookup
DNA supercoil wikipedia , lookup
Epigenetics of human development wikipedia , lookup
Polycomb Group Proteins and Cancer wikipedia , lookup
Genetic engineering wikipedia , lookup
Extrachromosomal DNA wikipedia , lookup
Site-specific recombinase technology wikipedia , lookup
Genealogical DNA test wikipedia , lookup
Medical genetics wikipedia , lookup
Therapeutic gene modulation wikipedia , lookup
Helitron (biology) wikipedia , lookup
Vectors in gene therapy wikipedia , lookup
Point mutation wikipedia , lookup
Y chromosome wikipedia , lookup
History of genetic engineering wikipedia , lookup
Cell-free fetal DNA wikipedia , lookup
Genome (book) wikipedia , lookup
Neocentromere wikipedia , lookup
Artificial gene synthesis wikipedia , lookup
Designer baby wikipedia , lookup
Microevolution wikipedia , lookup
Genetic Disorders Notes Integrated Science 2 Name: Per. I. Overview of DNA Structure A. Review 1. A is a segment of DNA that codes for a particular . 2. Proteins determine the of an organism. 3. In humans, DNA is organized into 23 pairs of chromosomes. B. DNA Structure 1. The basic building block of DNA is a . 2. Nucleotide chains are held together to form a . 3. Nucleotides are represented using the letters . II. DNA Based Disorders. A. Dysfunctional Genes 1. A gene can be some of its nucleotides or some of the nucleotides present may be in the . The protein made from that gene may . B. Missing Genes 1. A person can be born missing or of a gene. No protein is produced and the trait . C. Examples of DNA Based Disorders 1. Sickle-cell anemia Caused by a substitution of one nucleotide in the allele for normal . Red blood cells become in stressed conditions and die in 10 to 20 days (normal blood cells live for _________ days) leading to ____________. These tend to become stuck in capillaries, leading to . Most common among individuals with , because it provides a resistance to , 2. Huntington’s Disease Produced by a single . A gradual change of the occurs around the age of . Marked by a painful, progressing loss of muscle control and mental function until death occurs. Approximately __________ in 100,000 affected III. Chromosomal Based Disorders A. Causes 1. Nondisjunction During meiosis I, homologous chromosomes do not . Results in an extra copy of chromosome in one cell, and a loss of that chromosome from another. B. Results After fertilization, the resulting person will have an . A cell has one missing chromosome. A cell has one extra chromosome. C. Nondisjunction of Sex Chromosomes Genes critical to all embryonic development are on the . o Absence of the X chromosome is , absence of the Y chromosome is lethal. Individuals can survive if they have an extra chromosome. Affects approximately 1 birth in every _____________. Disorders involving Sex Chromosomes 1. Klinefelter Syndrome males with extra . Can be XXY or XXXY. affects 1/500 births. Abnormal development of the testis, leading to ____________________. Affected individuals are often ________ and produce relatively small amounts of _______________ 2. Triple X syndrome females with extra (XXX or XXXX). Affects 1/1000 female births. Affected individuals are usually ____________ than average and have ______________ builds. Normal development of sexual traits and are _____________. 3. Turner Syndrome females with only one affects 1/2000 live female births. Only 1 in ___________ affected zygotes develops to term. Individuals are short in stature, generally lack prominent female secondary sexual characteristics, and may be __________________. Health problems such as __________________, kidney problems, diabetes and thyroid problems. D. Nondisjunction of Autosomal (non-sex) Chromosomes Can affect chromosomes . Only 3 result in a baby that can survive for a time after birth. Most frequently, the baby dies in utero. 1. Down Syndrome – one extra . (written as 47, +21). 1/800 live births Life expectancy ___________________ but heart problems persist lower than average mentally. Decreased muscle tone, flat _________, eyes slanting up, irregular shaped ears, large tongue relative to the mouth. IV. Diagnosing Gene Disorders A. Karyotype-a display of all the . 1. The process: Harvested cells in metaphase are . Chromosomes are observed under the microscope. A photograph is taken and enlarged. Chromosomes are arranged in . Abnormalities are identified. B. Prenatal Diagnosis 1. Carrier Identification Tests CVS (chorionic villus sampling) – a needle is inserted into the mother’s _______________ to test for DNA, gene, and chromosome disorders. Ultrasound – detects major ___________________ deformations Amniocentesis – fluid is removed from the sac around the embryo to detect _____________________ abnormalities Fetal blood sampling – needle is used to remove cells from the fetus to test for ____________ disorders. V. Preventing Genetic Disorders A. Blood Test Simple blood test in males and females can screen for more than __________ genetic mutations Approximately ________ and the results are available in less than a week. B. In Vitro Fertilization Doctors screen embryos after fertilization and only implant those that appear free of ________________