8/17 - Genetic Disorders Flashcards
when an affected person marries an unaffected one, every child has what chance of having the disease
one chance in two
autosomal dominant disorders of the:
nervous system
- huntington disease
- neurofibromatosis
- myotonic dystrophy
- tuberous sclerosis
autosomal dominant disorders of the:
urinary system
polycystic kidney disease
autosomal dominant disorders of the:
GI
familial polyposis coli
autosomal dominant disorders of the:
hematopoietic system
- hereditary spherocytosis
- von Willebrand disease
autosomal dominant disorders of the:
sksletal system
- MARFAN SYNDROME
- EHLERS-DANLOS SYNDROME
- osteogenesis imperfecta
- achondroplasia
autosomal dominant disorders of the:
metabolic system
- FAMILIAL HYPERCHOLESTEROLEMIA
- acute intermittent polyphyria
autosomal recessive (AR) disorders occur when? does it affect men or women more?
occur when both alleles at a given gene locus are mutated. both males and females equally affected
autosomal recessive disorders of the:
metabolic system
- LYSOSOMAL STORAGE DISEASE
- GLYCOGEN STORAGE DISEASE
- cystic fibrosis
- phenylketonuria
- galactosemia
- homocystinuria
- alpha-1 antitrypsin deficiency
- wilson disease
- hemochromatosis
autosomal recessive disorders of the:
hemaopoietic disease
sickle cell and thalassemia
autosomal recessive disorders of the:
endocrine
congenital adrenal hyperplasia
autosomal recessive disorders of the:
skeletal system
- EHLERS-DANLOS
- alkaptonuria
what is the only syndrome that is AR or AD
skeletal Ehlers-Danlos syndrome
autosomal recessive disorders of the:
nervous sytem
- neurogenic muscular atrophies
- Friedreich ataxia
- spinal muscular atrophy
B)
___ disorders are transmitted by heterozygous female to their son, who manifest the disease
X-linked
in x-linked disorders, are male or female carriers procted because of random inactivation of one x-chromosome
FEMALE
B) sons of heterozygous women have what chance of receiving mutant gene
one of two
B) T/F: affected male does not transmit disorder to his sons but all daughters are carriers
TRUE
X-linked disorder of the nervous system
fragile x syndrome
what are disorders associated w/ defects in structural proteins
- Marfan syndrome
- Ehlers Danlos syndrome
what disease:
Disorder of connective tissue; manifested
principally by changes in the skeletal, eyes, and
cardiovascular system
Prevalence is estimated to be 1 in 5000
Marfan syndrome
is marfan syndrome mainly AD or AR
AD
since only 70-80% of marfan syndrome is familial, how do the others arise?
sporadic and arise from new mutations
marfan syndrome is caused by mutaiton in ___ encoding ___ which is required for structural integrity of connective tissue
FBN1 gene; fibrillin
what disease:
tall stature, long fingers, bilateral subluxation of lens, mitral valve polapse, aoric aneurysm, and aortic dissection
marfan syndrome
oral features of marfan syndrome
- incompetent lips
- retrognathia
- narrow, high arched palate w/ crowding
ppl w/ Marfan syndrome have greater risk for what oral features
- dental caries
- higher pulpal calcifications and gingival inflammation
- TMJ subluxation
is ehlers-danlos AR or AD
either or
what disease:
Comprise a clinically and genetically heterogenous group of disorders that result from some mutations in the genes that encode collagen, enzymes that modify collagen, and less commonly other proteins present in the extracellular matrix
ehlers-danlos syndromes
what disease:
charaterized by defects in collagen synthesis or assemly
ehlers-danlos
what disease:
Clinical features may include fragile
hyperextensible skin vulnerable to trauma,
hypermobile joints, and ruptures involving
the colon, cornea, and large arteries
Ehlers-danlos
is wound healing poor or good in ehlers-danlos
POOR
oral manifestations of pt with Ehlers-Danlos
- perio disease at early age
- easy bruising and bleeing
- recurrent subluxation of TMJ
- Gorlin sign - touch tip of nose with tongue
what is gorlin sign
touch the tip of nose with tongue (seen in less than 01$ of population)
what are disorders associated w/ defects in receptor proteins
familial hypercholesterolemia (FHCL)
FHCL is caused by what gene mutations
- LDL (85%)
- ApoB protein
- activating mutations of PCSK9
is FHCL AD or AR
AD
Patients develop ___
because of impaired transportation of LDL into
the cells
hypercholesterolemia
! in heterozygotes of FHCL, they have increased risk of what?
atherosclerosis, xanthomas, and coronary arteries
do homozygote or heterozygote FHCL have greater increase in serum choleserol and higher frequency of ichemic heart disease
homo
in homozygous FHCL, the aortic root is prone to develop ___ at an early age
atherosclerotic plaque
