Nature, nurture and the genome Flashcards
Giemsa stain, Light microscopy and banding
Method used to analyse structure and organisation of DNA molecules and the nucleogenome is to study the chromosome complement of the cell with microscopy.
Why are we trying to map the genome?
To identify chromosome abnormalities associated with congenital developmental disorders or to detect abnormalities associated with cancer development.
Human Genome Project (1990 to 2003) - The initial aims of the project were to determine the nucleotide sequence of the transcriptionally active parts of the human genome and to define the position (locus) of each gene on the chromosomes.
We can define a gene as a unit of heredity in the study of patterns of inheritance. It can also be defined physically.
The human body produces hundreds of different specialised cell types and yet, the same haploid and diploid DNA blueprint is contained in each of them.
What mechanisms exist to differentiate these cells?
Different gene expression patterns are important.
What is a phenotype?
Some phenotypes like height and blood pressure show a continuous normal distribution in populations.
Height is a trait is influenced by genetic factors and other factors like nutrition but the genetics is complicated. This is a good example of polygenic inheritance.
The phenotype is determined by variants of many genes at different loci, each allele exerting a small additive effect.
Traits that exhibit normal distribution are determined by the interplay of many alleles at different loci but are also affected by things such as diet and hence why they are described as multifactorial.