Chapt 7/21

Question 1

Genetic disorder

Answer 1

Single gene trait or chromosomal defect

Question 2

Chromosomal defect

Answer 2

Error during meiosis, DNA fragment lost or displaced

Question 3

Developmental defect

Answer 3

Spontaneous errors; results from environmental factor

Question 4

Multifactorial defect

Answer 4

10% of population; polygenic ( caused by multiple genes)

Question 5

Describe the inheritance pattern of autosomal recessive

Answer 5

Both parents must pass on the allele for the disorder (carrier state)

Question 6

Describe the inheritance pattern of autosomal dominant

Answer 6

Only have to inherit 1 dominant gene (no carrier state)

Question 7

Describe the inheritance pattern of

x-linked recessive disorder

Answer 7

Carried on X chromosome but not the Y (recessive dominant disorder)

Question 8

Explain common causes of development disorders and their relationship to fetal development

Answer 8

Smoking-low birth weight
Radiation, pharmaceuticals, cocaine abuse, maternal infections- exposure in 1st 2 weeks/embryo death exposure in 1st 2 months/ body structure forming

Question 9

Discuss the importance of proteomics in the development of treatments for genetic disorders

Answer 9

Drugs developed tailored to individuals genotype “designer drugs”

Question 10

Discuss the purpose of genetic engineering and current concerns

Answer 10

To prevent disease; not uniformly successful transplanting; copying genes

Question 11

Describe the cause and effects for down syndrome

Answer 11

Extra X chromosome; trisomy 21; flat head; slant eyes; small hands; single palmer crease

Question 12

Define congenital disorder

Answer 12

Present at birth