Search google

Wednesday, 2 July 2014

v semester bsc basic human genetics

           BASIC HUMAN GENETICS

1. Human chromosome:
       - Normal Human karyotype:Paris nomenclature, Flow karyotype (Quantification of DNA of individual chromosomes) FACS-Fluorescence activated cell sorter.

2. Genetic Diseases & inheritance pattern

     - Autosomal inheritance-Dominant
      (Ex-Adult polycystic kidney, Achondroplasia & Neurofibromatosis)
     - Autosomal inheritance-Recessive
        (Albinism, Sickle cell anemia & phenylketonuria)
    - X-linked Recessive
        (Ex-Duchenne muscular dystrophy-DMD)
    - X-linked Dominant
       (Ex-Xg blood group)
    - Y-linked inheritance
      (Holandric gene Ex. Testes determining factor-TDF)
    - Multifactorial inheritance
      (Ex-Congenital malformations-cleft lip & palate, Rheumatoid arthritis & Diabetes)
     - Mitochondrial diseases
        (Ex-Leber's hereditary optic neuropathy)

3. Pedigree studies & Genetic counseling:
  -Symbols used in pedigree studies, pedigree analysis & construction, pedigree analysis for the inheritance pattern of genetic diseases.
 - Genetic counseling
        *stage1: History & pedigree construction
        *stage2: Examination
        * stage3: Diagnosis
        * stage4: counseling
        * stage5: Follow up

4. Immunology and immunogenetics:
      - Introduction to immunology
      - cells of immune system
      - Genetics of immune system
      - Immune response, immunity-innate & Acquired
      - inherited immunodeficiency-Ex-X-linked agammaglobulineamia
      - Major Histocompatibility complex-Study of Twins(MHC)
      - HLA disease association
      - Transplantation, graft-versus-host disease.

5. Dermatoglyphics
     - Introduction & classification, Flexion creases
     - Dermatoglyphics in clinical disorders
     - Clinical applications, its advantages & limitations

6. Prenatal Diagnosis
    - introduction & definition
    - various procedures used such as Amniocentesis, Chorionic villus sampling, Ultrasonography & Fetoscopy.

7. Oncogenetics:
     - Properties of malignant cells
     - Types of Genes-proto oncogenes, Oncogenes, cellular oncogenes, Tumor suppressor genes, Viral oncogenes.
    - Chromosomal Abnormalities associated with the specific malignancies -APL, ALL, CLL, CML & Retinoblastoma.

8. Genetics & society
     - Eugenics: Positive & Negative, Euthenics, Euphenics
    - Human Genome project
    - Gene Therapy
    - Stem cells-Definition, types & source. A brief account on cord blood banking & stem cell therapy.

CLICK REFERENCE

Genetics

Paper 6 Human Genetics
   
    BIOCHEMISTRY








































No comments:

Post a Comment