PPT-Chromosomes and their disorders

Prepared by Rania Naoufal MD Learning Objectives Chromosome structure Chromatin Chromatin exists in several alternative configurations depending on what that particular stretch of DNA is doing. EQ:. What is the importance of meiosis in providing genetic variation?. . SPECIALIZED CELLS. You have many specialized cells in your body that can be divided into two groups. . 1. . . SOMATIC. = body cells; make up most of your . Section 6.1. 1. Objectives. SWBAT differentiate between body cells and gametes.. SWBAT compare and contrast autosomes and sex chromosomes.. 2. Vocabulary. Somatic cell. Gamete . Homologous chromosome. Mitosis vs. Meiosis . Mitosis. One division. 2 diploid daughter cells. Identical to parent cell. Mitosis. Two divisions. 4. haploid daughter cells. Genetically different from. parent cell. http://highered.mcgraw-hill.com/sites/0072495855/student_view0/chapter28/animation__how_meiosis_works.html. Essential idea: Chromosomes carry genes in a linear sequence that is shared by members of a species.. The . asian. rice (. Oryza. sativa. ) genome can be seen illustrated . above. . Rice possesses up 63,000 genes divided up between 12 chromosomes. DNA. Nucleic Acid macromolecule. DNA is long, thin molecule & stores genetic . information called . chromatin. Cell division requires compact structures = . chromosomes. Chromosomes . DNA . (. eukaryotic cells) coil around . Chromosomes carry genes in a linear sequence that is shared by members of a species.. Understandings:. Prokaryotes have one chromosome consisting of a circular DNA molecule. . Some prokaryotes also have plasmids but eukaryotes do not. .. The Chromosome Theory of Heredity. Mutations. Regulation of Gene Expression. Objectives. State the chromosome theory of heredity. Explain how gene linkage affects inherited traits. Describe the process of crossing-over and explain how it increases genetic variety. Phases of Mitosis and Meiosis. Unit 2. glossary. Chromatin - diffuse, long fibers of DNA with proteins attached . Single chromosomes - a chromosome which has not been duplicated (like ½ of an x). Duplicated chromosomes - a chromosome which has been duplicated (a complete X). diploid. Sex cells (gametes/germ cells) have only one set of chromosomes . . = . haploid. . That means when fertilization . occurs, the new individual will. have the correct number of chromosomes.. What happens if mistakes occur?. Nondisjunction. When chromosomes fail to separate in meiosis. Lead to chromosomes disorders. Karyotype. Is an organized profile of a persons chromosomes. Two chromosomes specify gender:. Ms. Diana and Ms. Su’ad. Karyotype Studies. The study of genetic material does not only involve the study of genes. It also involves whole chromosomes by using images of chromosomes stained during metaphase. . Polydactyly. Down Syndrome. Hemophelia. Progeria. Hypertrichosis. Sickle Cell Anaemia. INTRODUCTION. What is genetic diseases/disorders?. The human body is composed up of cells , each one specializing a particular function like sensing light, smelling . 22 pairs of autosomes. 1 pair of sex chromosomes. XX = Female, XY = Male. Karyotype - chromosomes are arranged according to shape and size. AN EXTRA COPY OF CHROMOSOME 21 CAUSES DOWN SYNDROME. This condition is called . Complex Patterns of Inheritance. Incomplete dominance (review). Co-Dominance (review). Multiple alleles – pattern of inheritance is determined by two or more alleles. . Blood types (next slide) – three forms (I.