CF anomalies and genetic diseases Flashcards
When was the human genome project carried out?
1990-2003
purpose of human genome project?
determine base pairs in DNA
term for one gene affecting different characters?
pleiotropy
what tests are for qualitative discrete traits?
ABO blood antigen test
what are quantitative continuous traits?
height
weight
tooth size
what do homeobox genes direct that is essential in genetic structuring?
NCC start off as ectodermal then migrate to 1st branchial arch
what is the morphogenetic cascade?
all processes happen simultaneously to determine the final phenotype of the face
what homeobox genes are for tooth buds?
MSX1 MSX2
male and female karyotype?
male - X Y
female - X X
what is the most prevalent type of genetic disease?
congenital manifestation
example of dominant single gene disease
osteogenesis imperfecta
example of recessive single gene disease
cystic fibrosis
example of x-linked single gene disease
amelogenesis imperfecta
what does a mutation in FGFR3 lead to?
dwarfism
what generations inherit autosomal dominant disease?
all
what is the risk of child inheriting autosomal dominant disease?
50%
what are examples of autosomal dominant disease?
*Craniosynostosis
*Cleidocranial dysostosis (absent clavicles)
*Van der Woude syndrome (cleft palate and lower lip pits)
*Dentinogenesis imperfecta (blue sclarea, opalescent dentine)
what is penetrance?
probability of genotype causing disease.
what is expressivity?
severity of expression of gene
what generation does autosomal recessive disease affect?
one
when does autosomal recessive disease arise?
mother and father defected
what are risk of child inheriting autosomal recessive disease?
1 in 4
examples of autosomal recessive disease?
*Cystic fibrosis
*Phenylketonuria
*Laurence – moon syndrome
*Hepato-lenticular degeneration (Wilsons disease)
what happens if female carrying X-linked disease?
half male children affected
half female children carries
what happens if male affected by X-linked disease?
all male children normal
all female children carriers
when do you find x inactivation?
in female cells where only one chromosome is active
examples of x-inactivation diseases?
*Ectodermal Dysplasia (absent sweat glands and hair follicles, dry skin) – hypodontia and conical teeth.
*Amelogenesis – male
*Lyonisation (enamel)
examples of multifactorial disease?
cleft lip
heart disease
DM
asthma
