Human Chromosome Structure, Function, and Mutations PDF
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This document explains the structure and function of human chromosomes, including mutations and polymorphisms.It covers topics like chromosomal compaction, types of DNA mutations, and karyotypes.
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Wondershare PDFelement Wondershare PDFelement LEARNING OUTCOMES Define mutations and polymorphisms. Distinguish the three types of DNA mut...
Wondershare PDFelement Wondershare PDFelement LEARNING OUTCOMES Define mutations and polymorphisms. Distinguish the three types of DNA mutations: genome, chromosomal, and gene. Describe chromosomal compaction and the proteins involved in chromatin structure. Diagram a human chromosome, and label the centromere, q arm, p arm, and telomere. Illustrate the different types of structural mutations that occur in chromosomes. State the karyotype of a normal male and female. Identify the chromosomal abnormality in a given karyotype. Compare and contrast interphase and metaphase FISH analyses. Distinguish between the effects of balanced and unbalanced translocations on an individual and the individual’s offspring. Wondershare PDFelement THE HUMAN GENOME It refers to all the genes found in a single individual. Composed of 2.9 billion nucleotide base pairs of DNA organized into twenty-three (23) chromosomes. Genetic information is carried on the chromosomes in the form of the order, or sequence, of nucleotides in the DNA helix (genotype). The genotype is responsible for the organism’s phenotype (traits) Wondershare PDFelement THE HUMAN GENOME Human Humans are diploid organisms chromosomes with a total of 46 chromosomes. in blood Humans inherit a haploid set of their genes from each parent We get 23 pairs of chromosomes from each parent 22 autosomes (chromosome 1 to 22) + 1 sex chromosome (Chromosome X or Y) Wondershare PDFelement CHANGES IN THE DNA SEQUENCE Changes in the DNA sequence are called mutations or polymorphisms, which may or may not affect the individual and its progeny. MUTATIONS POLYMORPHISMS Alteration in the DNA sequence Result from mutations (the individual’s genotype) DNA base pair alterations naturally DNA base pair alterations present in occurring as variants; common in the a relatively small proportion of a population (high-frequency: >1%) population (low-frequency:
