6.1 Genetics Basics

Question 1

Genetics

Answer 1

• Study of genes and their impact on rare single gene disorders

Question 2

Genomics

Answer 2

• Study of all the genes in the human genome (Complete genetic substance of an organism)
• Includes interactions with each other, environment, and other psychosocial and cultural factors

Question 3

Precision Medicine

Answer 3

• Disease treatment/prevention that takes into account individual variability in genes, environment, and lifestyle of each person

Question 4

Genotype

Answer 4

• Genetic composition of a person (alleles)

Question 5

Phenotype

Answer 5

• Observable trait

Question 6

Genes and chromostomes

Answer 6

• Genetic material is located in the nucleus of our cells
• Genes tell our body how to look, grow, and function
• Genetic code is carried by chromosomes (thread-like structures of nucleic acid and proteins in the nucleus of most living cells)

Question 7

Chromosomes

Answer 7

• 46 total
• 23rd pair is the sex chromosome
  XX = female
  XY = male

1 copy of chromosomes comes from mother and 1 copy from father

Question 8

Genetic Variations/Mutations

Answer 8

• Humans are 99.9% genetically identical to each other

- Variations/Mutations/Abnormalities can occur at any time during the biological process

Question 9

Chromosomal Abnormalities

Answer 9

Aneuploid - Extra or missing whole chromosome
Deletions/Duplications/Copy Number Variants - Extra or missing portions of a chromosome
Translocation/Inversion - Abnormal re-arrangement of structure

Question 10

Gene mutations

Answer 10

• Often due to DNA damage or error in repair
• Point mutations/silent/missense/nonsense mutations, frameshift mutations
• Trinucleotide Repeats

Question 11

Germline vs Somatic Mutations

Answer 11

Germline - Occur in gametes and can be passed down to offspring

• Identifiable by genetic testing
• Found in often every cell except mosaicism

Somatic Mutations - Not inherited (occurs in single cell in body)

Question 12

Importance of Genetics

Answer 12

• Can confirm or exclude medical conditions
• Capacity to predict disease risk and progression
• Provide individualized screening and risk reduction interventions
• Help target disease treatment
• Determine risk of disease to family members or reproductive risks
• Help families and providers understand why