Things Can Go Wrong With DNA and Chromosomes Genetic Disorders Things Can Go Wrong With DNA and Chromosomes

QQ #1 What is the difference between a gene and an allele? Why are proteins so important? How many chromosomes are in every cell in your body?

I. Overview of DNA Structure A. Review 1. A gene is a segment of DNA that codes for a particular protein 2. Proteins determine the physical traits of an organism 3. In humans, DNA is organized into 23 pairs of homologous chromosomes B. DNA Structure 1. The basic building block of DNA is a nucleotide 2. Nucleotide chains are held together to form a double helix 3. Nucleotides are represented using the letters A,T,C,G

One nucleotide

II. DNA Based Disorders A. Dysfunctional Genes 1. A gene can be missing some of its nucleotides or some of the nucleotides present may be in the wrong order The protein made from that gene may not work properly B. Missing Genes 1. A person can be born missing most or all of a gene No protein is produced and the trait cannot be expressed properly QQ 2 – What do you think is the result of dysfuncntional/missing genes? C. Genetic Mutations The result of dysfunctional genes Can be bad, causing life threatening diseases Can be good, contributing to evolution through variation

C. Examples of DNA Based Disorders 1. Sickle-cell anemia Caused by a substitution of one nucleotide in the allele for normal hemoglobin Red blood cells become sickle-shaped These tend to become stuck in capillaries, leading to tissue death Most common among individuals with African decent, because it provides a resistance to Malaria Normal Red Blood Cell Sickle Cell

Huntington’s Disease Produced by a single dominant allele A gradual change of the nervous system occurs around the age of 30 or 40 Marked by a painful, progressive loss of muscle control and mental function until death occurs

III. Chromosomal Based Disorders Causes 1. Nondisjunction during meiosis I, homologous chromosomes do not separate properly QQ 3 – What are homologous chromosomes? Produces an extra copy of a chromosome in one cell, and a loss of that chromosome from another Results After fertilization, the resulting person will have an abnormal number of chromosomes A monosomic cell is missing one chromosome A trisomic cell has one extra chromosome QQ 4 – What is the difference between DNA and chromosomal based genetic disorders?

C. Nondisjunction of Sex Chromosomes Genes critical to all embryonic development are on the X chromosome absence of an X chromosome is lethal absence of a Y chromosome is not lethal Individuals can survive if they have an extra sex chromosome Affects approximately 1 birth in every 1000

D. Disorders involving Sex Chromosomes 1. Klinefelter Syndrome  males with extra X-chromosomes  can be XXY, XXXY, OR XXXXY Affects 1/500 births phenotypically male low body hair count, long legs, thin, increased possibility of sterility unless receiving treatment mental retardation occurs when there are more than 2 X-chromosomes QQ 5 – Is XXY a monosomy or trisomy?

2. Triple X and Quad X Syndrome  females with extra X-chromosomes (XXX, or XXXX) Affects 1/700 female births sometimes no visible difference from XX females limited fertility XXXX females are always intellectually challenged 3. Turner Syndrome  females with only one X-chromosome Affects 1/2500 live female births more than 90% self abort no ovaries, short, shield-like chest low set ears, webbed neck no mental deficiencies

E. Nondisjunction of Autosomal Chromosomes Can affect chromosomes #1 - #22 There only 3 trisomies that result in a baby that can survive for a time after birth Most frequently, the baby dies in utero. F. Disorders Involving Autosomal Chromosomes 1. Down Syndrome  one extra chromosome 21 -written as (47,+21) 1/6 die within the first year average life expectancy is 16 years lower than average mentality shorter than average height, broad forehead, round head, open mouth, etc.

IV. Diagnosing Gene Disorders A. Karyotype - a display of all the chromosomes in the nucleus 1. The process: Harvested cells in metaphase are treated and stained Chromosomes are observed under the microscope A photograph is taken and enlarged Chromosomes are arranged in homologous pairs Abnormalities are identified

1. Two Maternal Serum (Blood) Test B. Prenatal Diagnosis 1. Two Maternal Serum (Blood) Test Plasma Protein Screening (PAPP-A) – protein produced by the placenta in early pregnancy. Abnormal levels are associated with increased risk of chromosome abnormalities Human Chorionic Gonadotropin (hCG) – a hormone produced by the placenta in early pregnancy. Abnormal levels are associated with increased risk of chromosome abnormalities What ethical considerations are parents facing with regards to prenatal diagnosis of DNA based disorders?