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.
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
Paper8 Genetics
(Applied Genetics)
BIOCHEMISTRY
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