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Flashcards in Introduction To Genetics Deck (23):
1

What does hereditary mean

The DNA is in the germ cells

2

What does familial mean

Runs in the family, may not always be genetic I.e. Multiple sclerosis

3

What does genetic mean

Pathophysiology of the disorder is based in the changes in the DNA

4

What is genotype

The information about the patient from genetic tests results

5

What is phenotype

What you can physically observe, defined at multiple levels

6

What year was the human genome sequenced?

2000

7

Goals of the human genome sequencing

Identify genes, determine sequences, store information, improve tools, transfer technologies, address issues

8

What is ELSI implications

Ethical, legal, and social issues

9

What is the number of coding genes in humans

23000 genes

10

How do fewer genes account for greater complexity?

Alternate splicing (40% of genes), post translational modifications, epigenesis

11

How large is the genome?

3.2 billion base pairs (Gb)

12

Number of coding region (exons)

64 Mb

13

Number of mutations per human

4 Mb

14

What is an exon

Coding region of the genome

15

What are the elements of ENCODE

1. Elements that act at the protein and RNA levels
2. Regulatory elements that control cells and circumstances to make a gene active

16

What is a somatic mutation

The natural mutation that occurs in a person's lifetime

17

What is a mutation

Any change or deviation from the normal DNA code

18

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

19

What are the adverse reproductive outcomes

Infertility, fetal anomalies, abnormal screening, spontaneous miscarriages, low birth weight

20

What common disorders have a genetic basis

Cancer, vascular occlusion, HTN, diabetes, autoimmune disorders

21

What are the aspects of P4 medicine?

Personalized, predictive, preventative, participatory

22

Current applications of genetics

Family history, cancer therapeutics, pharmacogenetics, genetics susceptibility, SNP associations, molecular diagnostic tests

23

What is clinical genetics

The diagnosis, prognosis, and treatment of genetic diseases