1 / 96

PATHOLOGY:  GENETIC CONTROL, PROTEIN SYNTHESIS & CELL REPRODUCTION References:

PATHOLOGY:  GENETIC CONTROL, PROTEIN SYNTHESIS & CELL REPRODUCTION References: Pathologic Basis of Disease by Robbins and Cotran, 8th Ed. (2010). CONTENT of OBJECTIVES : Protein synthesis Normal cell division

alize
Télécharger la présentation

PATHOLOGY:  GENETIC CONTROL, PROTEIN SYNTHESIS & CELL REPRODUCTION References:

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. PATHOLOGY:  GENETIC CONTROL, PROTEIN SYNTHESIS & CELL REPRODUCTION References: • Pathologic Basis of Disease by Robbins and Cotran, 8th Ed. (2010)

  2. CONTENT of OBJECTIVES: • Protein synthesis • Normal cell division • Definition of terms- inheritance, genetics, genotype, phenotype, mutation, translocation, transcription, translation. • Genetic disorder vs congenital disorder • Inheritance patterns • Genetic counseling; role of PT

  3. Pathomechanism and etiology of: • Down’s syndrome • Charcot-Marie Tooth • Muscular Dystrophy • Spinal Muscular Atrophy • Congenital amputation • Congenital hip dislocation • Spinal dysraphism • Congenital foot deformities • Congenital heart disease

  4. transcriptiontranslation • DNA        ->        mRNA     ->      Protein

  5. Transcription is the making of an RNA molecule off a DNA template. Transfer of genetic code from DNA to RNA producing the mRNA. • Translation is the construction of an amino acid sequence (polypeptide) from an RNA molecule. Production of protein from the mRNA.

  6. Messenger RNA (mRNA) -blueprint for construction of a protein. Ribosomal RNA (rRNA) -construction site where the protein is made. Transfer RNA (tRNA) -delivers the proper amino acid to mRNA to form the protein

  7. RNA has ribose sugar instead of deoxyribose sugar. The base uracil (U) replaces thymine (T) in RNA. Most RNA is single stranded. tRNA has a "cloverleaf" structure due to complementary base pairing.

  8. Transcription: making an RNA copy of a DNA sequence

  9. Transcription of a segment of DNA to form a molecule of RNA.

  10. Codon - a 3-base sequence on the mRNA that codes for either a specific amino acid or a control word

  11. Much of DNA are non-coding base sequences, not genes • Intron: part of gene (DNA or mRNA) that does not code for polypeptide. It must be removed before translation. • Exon: coding part of DNA (or mRNA). The exon is translated during protein synthesis

  12. Ribosomes - organelles (in all cells) where proteins are synthesized. - consist of two-thirds rRNA and one-third protein.

  13. Transfer RNA (tRNA) - cloverleaf-shaped. tRNA carries the proper amino acid to the ribosome when the codons call for them. At the top of the large loop are three bases, the anticodon, which is the complement of the codon.

  14. Mutation - a change in the DNA base sequence that results in a change of amino acid(s) in the polypeptide coded for by that gene. • mutations can be caused by any mutagenic agent (carcinogen) radiation UV light- skin cancer. chemicals tobacco smoke-lung cancer viral insertion into the genome. virus carrying a tumor inducing gene (oncogene).

  15. NORMAL CELL CYCLE (GROWTH/DIVISION)

  16. Mitosis - the division of the nucleus and cytoplasm; process which somatic cells divide, produces 2 new daughter cells with a diploid number of chromosomes.

  17. somatic cells: body cell; tissues that make up organs • diploid number of chromosome: same number of chromosomes as the parent cell

  18. Meiosis - the division of the nucleus and cytoplasm; process which gametes divide,produces 4 new daughter cells with a haploid number of chromosomes. gametes: sex cells; female variety (egg) and male variety (sperm) haploid number of chromosome: half the number of chromosomes as the parent cells

  19. Congenital means “present from birth.” Congenital heart problems are the most common birth defects. Stenosis, septal defects, coarctation of the aorta are examples of congenital heart problems causing • Cyanosis • Dyspnea, fatigue from lack of blood in the lungs • Slow physical development

  20. A genetic disorder is a disease that is caused by an abnormality in an individual's DNA. • Gene - a unit of inheritance that usually is directly responsible for one trait or character. • Allele - an alternate form of a gene. Usually there are two alleles for every gene, sometimes as many a three or four.

  21. Dominant - a term applied to the trait that is expressed regardless of the second allele. • Recessive - a term applied to a trait that is only expressed when the second allele is the same

  22. Homozygous - when the two alleles are the same. • Heterozygous - when the two alleles are different, in such cases the dominant allele is expressed.

  23. Phenotype - the physical expression of the allelic composition for the trait under study. • Genotype - the allelic composition of an organism.

  24. chromosome translocation is an abnormal chromosomal rearrangement caused by the interchange of parts between nonhomologous chromosomes.

  25. inheritance of genetic diseases, abnormalities, or traits depends on the type of chromosome on which the abnormal gene resides (autosomal or sex chromosome), and by whether the gene itself is dominant or recessive.

More Related