Introduction To Genetics Flashcards
What does hereditary mean
The DNA is in the germ cells
What does familial mean
Runs in the family, may not always be genetic I.e. Multiple sclerosis
What does genetic mean
Pathophysiology of the disorder is based in the changes in the DNA
What is genotype
The information about the patient from genetic tests results
What is phenotype
What you can physically observe, defined at multiple levels
What year was the human genome sequenced?
2000
Goals of the human genome sequencing
Identify genes, determine sequences, store information, improve tools, transfer technologies, address issues
What is ELSI implications
Ethical, legal, and social issues
What is the number of coding genes in humans
23000 genes
How do fewer genes account for greater complexity?
Alternate splicing (40% of genes), post translational modifications, epigenesis
How large is the genome?
3.2 billion base pairs (Gb)
Number of coding region (exons)
64 Mb
Number of mutations per human
4 Mb
What is an exon
Coding region of the genome
What are the elements of ENCODE
- Elements that act at the protein and RNA levels
2. Regulatory elements that control cells and circumstances to make a gene active
What is a somatic mutation
The natural mutation that occurs in a person’s lifetime
What is a mutation
Any change or deviation from the normal DNA code
What is genetic polymorphism
The simultaneous occurrence in the same locality of 2+ discontinuous forms in such proportions that the rarest cannot be maintained by recurrent mutation
What are the adverse reproductive outcomes
Infertility, fetal anomalies, abnormal screening, spontaneous miscarriages, low birth weight
What common disorders have a genetic basis
Cancer, vascular occlusion, HTN, diabetes, autoimmune disorders
What are the aspects of P4 medicine?
Personalized, predictive, preventative, participatory
Current applications of genetics
Family history, cancer therapeutics, pharmacogenetics, genetics susceptibility, SNP associations, molecular diagnostic tests
What is clinical genetics
The diagnosis, prognosis, and treatment of genetic diseases
