Biology 1202B Lecture Notes - Lecture 1: Metaphase, Genomics, Heredity
Document Summary
Genomics is defined as the study of genes and their function and related techniques. Cell is arrested at metaphase: chromosomes most compact, stained with dye to produce banding pattern. Identify all individual chromosomes: 22 pairs of autosomes, 2 sex chromosomes. Dye stains in a consistent fashion: pattern compared to standard. Approximate size of the genome (3 billion base pairs) known. The sequence of a number of genes and genomic regions. Human genome project goal sequence and characterize the human genome. Draft sequence: missing 30% of genome. 10% euchromatin: 147821 gaps, 1/10000 errors. Finished sequence: 1% euchromatin missing, 341 gaps, 1/100000. Some regions of the genome are difficult to sequence. Gaps in sequence (red) heterchromatic/repetitive dna. Segmental duplications (blue: >1kb of dna with . 90% similarity to each other. Half of the human genome is repetitive dna: much is retroviral in origin. Efforts continue to close sequence gaps: primary focus on euchromatic gaps.