PPT-Human Chromosomes and Karyotyping

Chromosomal Disorders Chromosome abnormalities occur as a result of chromosome mutations brought on by mutagens like radiation or problems that occur during cell division The defects are classified as abnormalities of . Karyotypes. To find what makes us uniquely human, we have to explore the human genome. . A . genome. is the full set of genetic information that an organism carries in its DNA.. A study of any genome starts with chromosomes, the bundles of DNA and protein found in the nuclei of eukaryotic cells. . 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 . 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.. Human Genes and Chromosomes. Chromosomes 21 and 22 are the smallest human autosomes. Chromosome 22 has about 43 million DNA base pairs. Chromosome 21 has about 32 million base pairs. . Chromosome 22 has about 545 different genes. Genetic disorders tat occur on chromosome 22 are leukemia and neurofibromatosis (a tumor causing disease). There is also a long stretch of repeating DNA that does not code for proteins. . Vocabulary. Karyotype. Autosome. Sex chromosome. Nondisjunction. Monosomy. Trisomy. Pedigree. Carrier. Restriction enzyme. Restriction site. Restriction fragment. Sticky ends. Recombination. Gel electrophoresis. Human Inheritance. Disorders caused by individual genes - dominant. Individuals with the disorder only need 1 allele to have the disorder. Huntington’s Disease. Caused by a repeat of the sequence CAG . They are complexes of DNA and proteins. The genome comprises all the genetic material that an organism possesses. In bacteria, it is typically a single circular chromosome. In eukaryotes, it refers to one complete set of . 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. . 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 . any agency employees, makes any warranty, for the process disclosed, rights. Reference commercial product, any agency and opinions expressed herein do not any agency This new set-up makes for the res Prepared by Rania Naoufal, M.D.. Learning Objectives. Chromosome structure. Chromatin. Chromatin exists in several alternative configurations, depending on what that particular stretch of DNA is doing. They are also called as mega chromosomes. . These chromosomes are very long and thick in appearance during metaphase than normal chromosomes.. Hence they are called as Giant chromosomes.. The Giant chromosomes are of two types-. Genetic information is passed from one generation to the next on . chromosomes. .. Before cell division, each chromosome is duplicated, or copied.. C. hromosomes. Each chromosome consists of two identical . Important. Notes. For revision only. Objectives: . Describe the number, structure, and classification of human chromosomes . Explain what a Karyotype is and how it is obtained. . Describe chromosomal banding and explain its use. .