PPT-GENES, MUTATIONS & DISEASES:

UNDERSTANDING THE ORIGINS OF GENETIC DISORDERS httpwwwraogkorgdna PREVIOUSLY Nucleotides DNA and Genes httpigbiologyyblogspotcom httpknowgeneticsorg PREVIOUSLY Nucleotides DNA and Genes. How they are caused and why they can be beneficial. What kind of genetic disease?. Can be of two kinds:. Caused by . environmental factors. Hereditary. Genetic disease by environmental factors includes cancer due to the cells undergoing . Mutations. Any unpredictable change in the structure or amount of DNA of an organism is called a . mutation. . . Most . mutations occur in . somatic (body) cells. and are not passed from one generation to the next. . How do . unrealistic expectations . confound the results of our analyses. Case Studies in Bioinformatics. Giovanni Ciriello. giovanni.ciriello@unil.ch. Outline. Fundamentals of Cancer Genomics. Types of genetic alterations in cancer. 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. Exome. sequencing identifies the cause of a . Mendelian. disorder.. Nat. Genet. 42, 30–35 (2010).. Cupped ears. coloboma. of the lower eyelids, . prominent . nose, . micrognathia. . absence . of the fifth digits of the feet. Cancer can be caused by mutations to genes that regulate cell growth and division. Tumor viruses can cause cancer in animals including humans. Oncogenes and Proto-Oncogenes. Oncogenes . are cancer-causing genes. 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 . Conditional mutations. Point mutations. In . point mutations . the sequence of the DNA has been altered at a single position. Where this change consists of replacing one nucleotide by another, it is known as a . VBC-608. Unit- III. P.G.. 23.11.2020. 24.11.2020. Mitochondrial Diseases. The term mitochondrial cytopathy refers to a diverse group of inherited or acquired disorders.. It is heterogeneous group of disorders.. Main idea: Gene expression is regulated by the cell, and mutations can affect this expression. Gene Regulation . Cells have the ability to control which genes are transcribed and when they are transcribed. RNA is made of a long chain of nucleotides.. Differences between DNA and RNA:. 1 – the sugar on RNA is ribose instead of deoxyribose. 2 – RNA is generally single-stranded. 3 – RNA contains uracil in place of thymine. REVIEWS NATURE REVIEWS GENETICS VOLUME 7 AUGUST 2006 Male heterogamety which males carry two heteromorphic sex chromosomes (such as X and Y) and females carry two copies of the same chromosome ( Author. Ann Brokaw. Rocky River High School. Ohio. About This Activity…. These slides provide examples of different mutations and their effects on the organism and populations.. Answer the questions on the student handout when prompted.. mutation. Mutations. Actual Mutations . in fruit flies. What is a mutation?. A mutation is any change in a cell’s DNA. A mutation can occur in an individual gene. - results in a single changed protein.