Autosomal Disorder Flashcards
a disease that is caused by an abnormality in an individual’s DNA.
Autosomes or Somatic Chromosomes, Autosomal Recessive, Autosomal Dominant, autosomal disorders, Genetic disorder
Genetic disorder
Two copies of an abnormal gene must be present in order for the disease or trait to develop.
CHOICES:
Autosomes or Somatic Chromosomes, Autosomal Recessive, Autosomal Dominant, autosomal disorders, Genetic disorder
Autosomal Recessive
Carry genes that determine the somatic characteristics and do not have any influence on determining the sex of an individual.
Autosomes or Somatic Chromosomes, Autosomal Recessive, Autosomal Dominant, autosomal disorders, Genetic disorder
Autosomes or Somatic Chromosomes
Disorders related to autosome
Autosomes or Somatic Chromosomes, Autosomal Recessive, Autosomal Dominant, autosomal disorders, Genetic disorder
autosomal disorders
A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes.
Autosomes or Somatic Chromosomes, Autosomal Recessive, Autosomal Dominant, autosomal disorders, Genetic disorder
Autosomal Dominant
A genetic disorder is a result of point mutation or any insertion/ deletion entirely inside one gene. True or False
True
Genetic disorders range from a small mutation in DNA to or addition or subtraction of an entire chromosome or set of chromosomes. True or False
True
Gene Defect: Fibroblast growth factor receptor 3 (FGR3)
CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)
Achondroplasia
Gene Defect: Sonic Hedgehog
CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)
Holoprosencephaly
Gene Defect: 1 gene (FBN1) encodes a microfibril-forming connective tissue protein
CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)
Marfan Syndrome
Gene Defect: LDL Receptor
CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)
Hypercholesterolemia
Gene Defect: Huntingtin (HD) –CAG repeat expansion within exon 1
CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)
Huntington Disease (Chorea)
Gene Defect: A protein kinase gene (DMPK) –CTG repeat expansion in 3’ untranslated region of the gene
CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)
Myotonic Dystrophy
Gene Defect: Microdeletion at 17q11.2 involving the NF1 gene
CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea), Neurofibromatosis 1
Neurofibromatosis 1
Gene Defect: Mutations in either polycystin-1 (PKD1) or polycystin-2 (PKD2) gene
CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)
Polycystic Kidney Disease
Gene Defect: Either of the genes encoding the α1 or α2 chains of type I collagen
CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)
Osteogenesis Imperfecta
Clinical Feature: Impaired uptake of LDL, elevated levels of LDL cholesterol, cardiovascular disease, and stroke. Symptoms more severe in homozygous individuals
CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)
Hypercholesterolemia
Clinical Feature: Disorder is characterized by progressive motor, cognitive and psychiatric abnormalities. Chorea –nonrepetitive involuntary jerks –is observed in 90% of patients
CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)
Huntington Disease (Chorea)
Clinical Feature: Abnormalities of the skeleton (disproportionate tall stature, scoliosis), heart (mitral valve prolapse, aortic dilatation, dissection of the ascending aorta), pulmonary system, skin (excessive elasticity), and joints (hypermobility). A frequent cause of death is congestive heart failure.
CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)
Marfan Syndrome
Clinical Feature: Null mutations produce a milder form of the disease. Missense mutations that act in a dominant-negative manner are often perinatal lethal. The disorders are associated with deformed, under mineralized bones that are subject to frequent fracture.
CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)
Osteogenesis Imperfecta
Clinical Feature: Disorder shows anticipation. Muscle weakness, cardiac arrhythmias, cataracts, and testicular atrophy in males. Children born with congenital form have a characteristic open triangle-shaped mouth
CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)
Myotonic Dystrophy
Clinical Feature: Short limbs relative to trunk, prominent forehead, low nasal root, redundant skin folds on arms and legs
CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)
Achondroplasia
Clinical Feature: Malformation of the brain (no or reduced evidence of an interhemispheric fissure), dysmorphic facial features, mental retardation
CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)
Holoprosencephaly
Clinical Feature: Heterozygous individuals are predisposed to polycystic kidney disease because they are likely to lose the second good copy of the gene during their lifetime. Multiple renal cysts, blood in urine, end-stage renal disease and kidney failure.
CHOICES:
Hypercholesterolemia, Marfan Syndrome, Myotonic Dystrophy, Holoprosencephaly, Polycystic Kidney Disease, Achondroplasia, Osteogenesis Imperfecta, Huntington Disease (Chorea)
Polycystic Kidney Disease
Gene Defect: Cystic fibrosis transmembrane regulator (CFTR) – impaired chloride ion channel function
CHOICES:
Gaucher’s Disease, Tay-Sachs Disease, Cystic Fibrosis, Hemochromatosis, Phenylketonuria, Xeroderma Pigmentosum
Cystic Fibrosis
Gene Defect: Anyone of nine genes involved in nucleotide excision repair (locus heterogeneity)
CHOICES:
Gaucher’s Disease, Tay-Sachs Disease, Cystic Fibrosis, Hemochromatosis, Phenylketonuria, Xeroderma Pigmentosum
Xeroderma Pigmentosum
Gene Defect: Usually due to a mutation in Phenylananinehydroxylase (PAH)
CHOICES:
Gaucher’s Disease, Tay-Sachs Disease, Cystic Fibrosis, Hemochromatosis, Phenylketonuria, Xeroderma Pigmentosum
Phenylketonuria
Gene Defect: Β-Hexosaminidase (A isoenzyme (HEXA)
CHOICES:
Gaucher’s Disease, Tay-Sachs Disease, Cystic Fibrosis, Hemochromatosis, Phenylketonuria, Xeroderma Pigmentosum
Tay-Sachs Disease
Gene Defect: Β-Glucosidase
CHOICES:
Gaucher’s Disease, Tay-Sachs Disease, Cystic Fibrosis, Hemochromatosis, Phenylketonuria, Xeroderma Pigmentosum
Gaucher’s Disease
Gene Defect: Unknown gene on the short arm of chromosome 6
CHOICES:
Gaucher’s Disease, Tay-Sachs Disease, Cystic Fibrosis, Hemochromatosis, Phenylketonuria, Xeroderma Pigmentosum
Hemochromatosis
Clinical Feature: Lysosomal storage disease characterized by splenomegaly, hepatomegaly, and bone marrow infiltration. Neurological symptoms are not common.
CHOICES:
Gaucher’s Disease, Tay-Sachs Disease, Cystic Fibrosis, Hemochromatosis, Phenylketonuria, Xeroderma Pigmentosum
Gaucher’s Disease
Clinical Feature: Acute photosensitivity, premature skin aging, premalignant actinic keratoses, and benign and malignant neoplasms of the skin, including basal cell carcinoma, squamous cell carcinoma, or both. 5% of patients develop melanomas. Patients also exhibit ocular problems due to UV damage and have a 10-to 20- fold increased incidence of internal neoplasms due to an inability to repair DNA damage by endogenously generated and environmental genotoxic agents.
CHOICES:
Gaucher’s Disease, Tay-Sachs Disease, Cystic Fibrosis, Hemochromatosis, Phenylketonuria, Xeroderma Pigmentosum
Xeroderma Pigmentosum
Clinical Feature: Hypotonia, spasticity, seizures, blindness, death by age 2. An early indication is a cherry red spot on the retina.
CHOICES:
Gaucher’s Disease, Tay-Sachs Disease, Cystic Fibrosis, Hemochromatosis, Phenylketonuria, Xeroderma Pigmentosum
Tay-Sachs Disease
Clinical Feature: Mental retardation, if untreated, possibly due to inhibition of myelination and disruption of neurotransmitter synthesis. Detectable by newborn screening and treatable
CHOICES:
Gaucher’s Disease, Tay-Sachs Disease, Cystic Fibrosis, Hemochromatosis, Phenylketonuria, Xeroderma Pigmentosum
Phenylketonuria
Clinical Feature: Pancreatic insufficiency due to fibrotic lesions, obstruction of lungs due to thick mucus, lung infections (Staph, aureus, Pseud. aeruginosa)
CHOICES:
Gaucher’s Disease, Tay-Sachs Disease, Cystic Fibrosis, Hemochromatosis, Phenylketonuria, Xeroderma Pigmentosum
Cystic Fibrosis
Clinical Feature: Enhanced absorption of dietary iron with accumulation of abnormal, pigmented, iron-protein aggregates (hemosiderin) in visceral organs. Cirrhosis, cardiomyopathy, diabetes, skin pigmentation, and arthritis.
CHOICES:
Gaucher’s Disease, Tay-Sachs Disease, Cystic Fibrosis, Hemochromatosis, Phenylketonuria, Xeroderma Pigmentosum
Hemochromatosis
Xeroderma Pigmentosum
CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder
Autosomal Recessive Disorder
Neurofibromatosis 1
CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder
Autosomal Dominant Disorder
Polycystic Kidney Disease
CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder
Autosomal Dominant Disorder
Cystic Fibrosis
CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder
Autosomal Recessive Disorder
Marfan Syndrome
CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder
Autosomal Dominant Disorder
Huntington Disease (Chorea)
CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder
Autosomal Dominant Disorder
Osteogenesis Imperfecta
CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder
Autosomal Dominant Disorder
Hemochromatosis
CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder
Autosomal Recessive Disorder
Hypercholesterolemia
CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder
Autosomal Dominant Disorder
Myotonic Dystrophy
CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder
Autosomal Dominant Disorder
Gaucher’s Disease
CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder
Autosomal Recessive Disorder
Phenylketonuria
CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder
Autosomal Recessive Disorder
Holoprosencephaly
CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder
Autosomal Dominant Disorder
Tay-Sachs Disease
CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder
Autosomal Recessive Disorder
Achondroplasia
CHOICES:
Autosomal Dominant Disorder, Autosomal Recessive Disorder
Autosomal Dominant Disorder
Heterozygous individuals are predisposed to polycystic kidney disease because they are likely to lose the second good copy of the gene during their lifetime. True or False
True
In an autosomal recessive disease, both of the parents are affected, what is the ratio of having normal offspring?
1:4
In an autosomal recessive disease, both of the parents are affected, what is the ratio of having a carrier offspring?
2:4
In an autosomal dominant disease, when the father is affected, what is the ratio of having normal offspring?
2:4
In an autosomal recessive disease, both of the parents are affected, what is the ratio of having an offspring that is affected?
1:4