PPT-Mutations & Genetic Disorders

Headings Vocabulary Important Information Mutations Mutation Any mistake or change in the DNA sequence Point mutation Change in one nitrogen base in DNA Ex albinism Changes in chromosome structure. Changes in . DNA. that affect genetic information. Gene Mutations. Point Mutations – changes . in one or a few. nucleotides. Substitution. THE FAT CAT ATE THE RAT. THE FAT HAT ATE THE RAT. Insertion. Elie Traer. September 13, 2012. Outline. Genetic tests and methodology. Cytogenetics. , i.e. large chromosomal abnormalities. FISH, smaller chromosomal changes. Genetic mutations. AML. Evolution of genetic tests in diagnosis and prognosis. Mutation. Permanent change in the genetic material of an organism. All mutations in gametes are inheritable because they are copied during DNA replication. Somatic cell mutations occur in body cells. MIZZZ FOSTER © 2015. Quick review of Genes and Proteins. Genes. are a sequence . of DNA nucleotides which . code . (codons) for the building of a polypeptide chain at the ribosome which will be folded into a protein inside the rough endoplasmic reticulum. Genetic disorders can be due to any of the following factors:. A. Monogenetic Disorders: Caused by a mutation in a single gene. Autosomal. recessive alleles:. a. You may be a carrier and not know it, since the dominant allele masks the recessive.. CP Biology. Genetic Disorders. Major types of genetic disorders:. Autosomal. Single genes. Multiple genes. Sex-linked. Chromosome abnormalities. Autosomal Disorders. Autosomal genetic disorders . are caused by alleles on autosomes (chromosomes other than the sex chromosomes). M. istakes made in the DNA sequencing. They can have a range of effects.. They can affect the genetic information that is passed to offspring.. Cells have evolved various methods to deal with them. . CLINICAL INFORMATIONIntroductionMitochondrial disorders are a group of related, clinically diverse, genetic diseases with a prevalence of 1/5,000 to 1/8,500 that result from dysfunction of the mitocho The sequence of bases in DNA are like the letters of a coded message or even the letters of a simple alphabet. . If we change the sequence of the letters do we change the nature of the message?. That . 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 . Mohanad. Mahdi Al-. Hindawi. . Introduction . A . gene. (from ancient Greek: . gonos. : . offspring. , procreation) is a locus (or region) of DNA which is made up of nucleotides.. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. . Unit 8: Protein Synthesis . 6A: Identify components of DNA, identify how information for specifying the traits of an organism is carried in the DNA, and examine scientific explanations for the origin of DNA.. KEY CONCEPT:. . Mutations. are changes in genetic material.. VOCABULARY:. Mutation, point mutation, . frameshift. mutation, polyploidy. Mutations – extension from gene expression. . Changes in genotype. Learning Goal . Identify the type of change in DNA for a point mutation, a deletion mutation, and an insertion mutation. . Genetic Mutation. A. . mutation. is a change in the nucleotide sequence of DNA..