CF anomalies and genetic diseases

Question 1

When was the human genome project carried out?

Answer 1

1990-2003

Question 2

purpose of human genome project?

Answer 2

determine base pairs in DNA

Question 3

term for one gene affecting different characters?

Answer 3

pleiotropy

Question 4

what tests are for qualitative discrete traits?

Answer 4

ABO blood antigen test

Question 5

what are quantitative continuous traits?

Answer 5

height
weight
tooth size

Question 6

what do homeobox genes direct that is essential in genetic structuring?

Answer 6

NCC start off as ectodermal then migrate to 1st branchial arch

Question 7

what is the morphogenetic cascade?

Answer 7

all processes happen simultaneously to determine the final phenotype of the face

Question 8

what homeobox genes are for tooth buds?

Answer 8

MSX1 MSX2

Question 9

male and female karyotype?

Answer 9

male - X Y
female - X X

Question 10

what is the most prevalent type of genetic disease?

Answer 10

congenital manifestation

Question 11

example of dominant single gene disease

Answer 11

osteogenesis imperfecta

Question 12

example of recessive single gene disease

Answer 12

cystic fibrosis

Question 13

example of x-linked single gene disease

Answer 13

amelogenesis imperfecta

Question 14

what does a mutation in FGFR3 lead to?

Answer 14

dwarfism

Question 15

what generations inherit autosomal dominant disease?

Answer 15

all

Question 16

what is the risk of child inheriting autosomal dominant disease?

Answer 16

50%

Question 17

what are examples of autosomal dominant disease?

Answer 17

*Craniosynostosis
*Cleidocranial dysostosis (absent clavicles)
*Van der Woude syndrome (cleft palate and lower lip pits)
*Dentinogenesis imperfecta (blue sclarea, opalescent dentine)

Question 18

what is penetrance?

Answer 18

probability of genotype causing disease.

Question 19

what is expressivity?

Answer 19

severity of expression of gene

Question 20

what generation does autosomal recessive disease affect?

Answer 20

one

Question 21

when does autosomal recessive disease arise?

Answer 21

mother and father defected

Question 22

what are risk of child inheriting autosomal recessive disease?

Answer 22

1 in 4

Question 23

examples of autosomal recessive disease?

Answer 23

*Cystic fibrosis
*Phenylketonuria
*Laurence – moon syndrome
*Hepato-lenticular degeneration (Wilsons disease)

Question 24

what happens if female carrying X-linked disease?

Answer 24

half male children affected
half female children carries

Question 25

what happens if male affected by X-linked disease?

Answer 25

all male children normal
all female children carriers

Question 26

when do you find x inactivation?

Answer 26

in female cells where only one chromosome is active

Question 27

examples of x-inactivation diseases?

Answer 27

*Ectodermal Dysplasia (absent sweat glands and hair follicles, dry skin) – hypodontia and conical teeth.
*Amelogenesis – male
*Lyonisation (enamel)

Question 28

examples of multifactorial disease?

Answer 28

cleft lip
heart disease
DM
asthma