Genetics

Question 1

What is the structure of a chromosome

Answer 1

Each chromosome ​
is a long double-stranded DNA molecule, coated with proteins

Question 2

What are single gene disorders

Answer 2

Autosomal dominant
Autosomal recessive
X-linked recessive

Question 3

What affects complex chromosomal diseases

Answer 3

Multiple genes + environmental factors

Question 4

What is the dominant mode of inheritance

Answer 4

Only need one faulty gene to get disease

Question 5

Features of a horizontal pattern

Answer 5

People in single generation affected

Question 6

Effects of genetic variants

Answer 6

Complete inactivation of function​
Eg deletions; premature translation stop​

Decreased function​
Eg amino acid substitutions in key regions, regulatory variants​

No significant effect​
Eg non-coding DNA, no change in amino acid, alters less important region of protein​

Increased or changed function​
Eg amino acid substitutions in key regions, regulatory variants, duplications​

Question 7

What causes achondroplasia

Answer 7

Dominant mutation

Question 8

What causes cystic fibrosis

Answer 8

Autosomal recessive inheritance

Question 9

What are the features of cystic fibrosis

Answer 9

Affects males and females​

Horizontal pattern​

Autosomal recessive inheritance​

Affects children and young adults

Affects digestion and resp system

Question 10

What is a proband

Answer 10

Person who has brought the family to attention