Human Genetics

At the end of this course, students should be able to: 1. explain the chromosome theory of inheritance; 2. describe the process of cell division; mitotic and meiotic; 3. appreciate introduction to karyotyping and cytogenetic analysis techniques; 4. explain how abnormalities in chromosome number and structure arise; 5. define single gene mutations; and 6. identify the phenotypic expressions of some selected chromosomal and single gene mutation abnormalities.

Fundamental human genetic principles. Variation in gene expression in man. Patterns of inheritances in families (autosomal dominant, autosomal recessive, X-linked dominant, X- linked recessive, Y-linked and sex influenced). Cytogenetics, types and classification of human chromosomes. Methods of preparation of human chromosomes and Karyotyping. Types of numerical and structural chromosome aberrations and their causes. Gene hybridisation. Human genomic studies. 199