HUMAN GENETICS- I

Introduction to Human Genetics

History and development of human genetics; Organisation of the human genome; Genes and chromosome structure,
function and inheritance;

Genetic study in man- Pedigree analysis, Chromosomal analysis

Monogenic and polygenic traits;

Elementary idea of c-value paradox;

Inborn errors of metabolism: Phenylketonuria;

 Neurogenetic disorders: Alzheimer’s disease;

Muscle genetic disorders: Duchenne Muscular Dystrophy;

Genetic disorders of Haematopoitic systems: Sickle cell anemia, Thalassemias & Hemophilias;

 Multifactorial disorders: Diabetes mellitus;

Mitochondrial syndromes;

Monogenic diseases: Cystic fibrosis, Tay Sach’s Syndrome & Marfan Syndrome;

Complex polygenic syndromes: Hyperlipidemia, Atherosclerosis

Genetic basis of eye disorders: Colour Blindness, Retinitis pigmentosa, Huntington’s disease

Chromosomal basis of Genetics disorders Down Syndrome

Patau and Edward Syndrome ,Turner Syndrome ,Klinefelter Syndrome ,Cri-du Chat Syndrome

Sex Determination

Various type of systems :XX,XY,XO and ZW

Special types of chromosome-sex chromosomes, sex chromatin, B-chromosome, polytene and lampbrush chromosomes; Numerical and structural changes in the chromosome.

Sex-linked inheritance- X-linked recessive, dominant; Y–linked; Sex-limited and sex-influenced traits

Dosage compensation;

Repetitive DNA-satellite
DNAs and interspersed repeated DNAs

Cytogenetics

Techniques in the study of chromosomes and applications: Chromosome Banding Techniques G- Banding ,R-Banding

C-Banding .Q-Banding ,NOR Staining

Karyotyping,

 In situ hybridization