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158 Cards in this Set

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Definition: Variable Expression
Nature/severity of phenotype varies from 1 individual to another
Definition: Incomplete Penetrance
Not all individuals with mutant genotype show mutant phenotype
Definition: Pleiotropy
1 gene has > 1 effect on a person's phenotype
Definition: Imprinting
Differences in phenotype depend on whether the mutation is of maternal or paternal origin
Definition: Anticipation
Severity of disease worsens or age of onset is earlier in succeeding generations (eg Huntington's disease)
Definition: Loss of heterozygosity, and what kind of gene does it apply to
If tumor suppressor gene mutated, complementary allele must also be deleted/mutated before cancer develops. (Not true of oncogenes)
Definition: Dominant negative mutation
Exerts a dominant effect. A heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioning
Definition: Linkage disequilibrium
Tendency for certain alleles at 2 linked loci occur together more often than expected by chance. Measured in a population
Definition: Mosaicism
Occurs when cells in the body have different genetic makeup
Locus heterogeneity
Mutations at different loci can produce the same phenotype
When do you get Prader-Willi and when do you get Angelman's syndrome?
P: When you delete Paternal allele.

AngelMan's: When you delete maternal allele
Prader-Willi syndrome
Deletion of paternal allele
-Mental retardation
-Obesity
-Hypogonadism
-Hypotonia
Angelman's' syndrome
Deletion of maternal allele
-Mental retardation
-Seizures
-Ataxia
-Inappropriate laughter
(happy puppet syndrome)
X-linked dominant: Who gives and who gets
Father gives to all daughters. Mother gives to half of children (male or female)
X-linked recessive: Who gives and who gets
Affected father passes gene to all daughters. Carrier mother passes disease to 50% of sons, and gene to 50% of daughters.
When do autosomal dominant disorders tend to present
After puberty
When do autosomal recessive disorders present?
During childhood
What is an example of an X-linked dominant disorder
Hypophosphatemic rickets
Mitochondrial inheitance: who gives and who gets
Mother gives.

All children get.
What are examples of mitochondrial inheritance
-Leber's hereditary optic neuropathy
-Mitochondrial myopathies
Adult Polycystic Kidney Disease: What gene on what chromosome?
APKD1 on chromosome 16
Autosomal/X-linked & Dominant/Recessive: Adult polycystic Kidney Disease
Autosomal Dominant
Autosomal/X-linked & Dominant/Recessive: Familial hypercholesterolemia
Autosomal Dominant
Autosomal/X-linked & Dominant/Recessive: Marfan's Syndrome
Autosomal Dominant
Autosomal/X-linked & Dominant/Recessive: Neurofibromatosis
Autosomal Dominant
Autosomal/X-linked & Dominant/Recessive: Tuberous Sclerosis
Autosomal Dominant
Autosomal/X-linked & Dominant/Recessive: Von Hippel-Lindau disease
Autosomal Dominant
Autosomal/X-linked & Dominant/Recessive: Huntington's Disease
Autosomal Dominant
Autosomal/X-linked & Dominant/Recessive: Familial Adenomatous Polyposis
Autosomal Dominant
Autosomal/X-linked & Dominant/Recessive: Herditary spherocytosis
Autosomal Dominant
Autosomal/X-linked & Dominant/Recessive: Achondroplasia
Autosomal Dominant
Autosomal/X-linked & Dominant/Recessive: Cystic Fibrosis
Autosomal Recessive
Autosomal/X-linked & Dominant/Recessive: Albinism
Autosomal Recessive
Autosomal/X-linked & Dominant/Recessive: Alpha-1-Antitrypsin Deficiency
Autosomal Recessive
Autosomal/X-linked & Dominant/Recessive: Phenylketonuria
Autosomal Recessive
Autosomal/X-linked & Dominant/Recessive: Thalassemia
Autosomal Recessive
Autosomal/X-linked & Dominant/Recessive: Sickle Cell Anemia
Autosomal Recessive
Autosomal/X-linked & Dominant/Recessive: glycogen storage diseases
Autosomal Recessive
Autosomal/X-linked & Dominant/Recessive: Hurler's Syndrome
Autosomal Recessive
Autosomal/X-linked & Dominant/Recessive: sphingolipidoses
Autosomal Recessive (except Fabry's)
Autosomal/X-linked & Dominant/Recessive: Polycystic Kidney Disease
(infant) Autosomal Recessive

(adult) Autosomal Dominant
Autosomal/X-linked & Dominant/Recessive: Infant Polycystic Kidney Disease
Autosomal Recessive
Autosomal/X-linked & Dominant/Recessive: Hemochromatosis
Autosomal Recessive
Autosomal/X-linked & Dominant/Recessive: Bruton's agammaglobulinemia
X-linked Recessive

(Be Wise, Fool's GOLD Heeds False Hope)
Autosomal/X-linked & Dominant/Recessive: Wiskott-Aldrich Syndrome
X-linked Recessive

(Be Wise, Fool's GOLD Heeds False Hope)
Autosomal/X-linked & Dominant/Recessive: Fragile X
X-linked Recessive

(Be Wise, Fool's GOLD Heeds False Hope)
Autosomal/X-linked & Dominant/Recessive: G6PD
X-linked Recessive

(Be Wise, Fool's GOLD Heeds False Hope)
Autosomal/X-linked & Dominant/Recessive: Ocular albinism
X-linked Recessive

(Be Wise, Fool's GOLD Heeds False Hope)
Autosomal/X-linked & Dominant/Recessive: Lesch-Nyhan Syndrome
X-linked Recessive

(Be Wise, Fool's GOLD Heeds False Hope)
Autosomal/X-linked & Dominant/Recessive: Duchenne's muscular dystrophy
X-linked Recessive

(Be Wise, Fool's GOLD Heeds False Hope)
Autosomal/X-linked & Dominant/Recessive: Hemophilia A and B
X-linked Recessive

(Be Wise, Fool's GOLD Heeds False Hope)
Autosomal/X-linked & Dominant/Recessive: Fabry's disease
X-linked Recessive

(Be Wise, Fool's GOLD Heeds False Hope)

The only non autosomal recessive sphingoliposis
Autosomal/X-linked & Dominant/Recessive: Hunter's Syndrome
X-linked Recessive

(Be Wise, Fool's GOLD Heeds False Hope)
Autosomal/X-linked & Dominant/Recessive: Von Gierke's disease
Autosomal Recessive

Glycogen storage disease type 1 --> all glycogen storage diseases are autosomal recessive
Autosomal/X-linked & Dominant/Recessive: Pompe's Disease
Autosomal Recessive

Glycogen storage disease type 2 --> all glycogen storage diseases are autosomal recessive
Autosomal/X-linked & Dominant/Recessive: Cori's Disease
Autosomal Recessive

Glycogen storage disease type 3 --> all glycogen storage diseases are autosomal recessive
Autosomal/X-linked & Dominant/Recessive: McArdle's Disease
Autosomal Recessive

Glycogen storage disease type 4 --> all glycogen storage diseases are autosomal recessive
Autosomal/X-linked & Dominant/Recessive: Fabry's disease
X-Linked Recessive

(The only X-linked recessive sphingoliposis)
Autosomal/X-linked & Dominant/Recessive: Gaucher's Disease
Autosomal Recessive

(All sphingoliposes are Autosomal Recessive except for Fabry's disease)
Autosomal/X-linked & Dominant/Recessive: Niemann-Pick Disease
Autosomal Recessive

(All sphingoliposes are Autosomal Recessive except for Fabry's disease)
Autosomal/X-linked & Dominant/Recessive: Tay-Sachs Disease
Autosomal Recessive

(All sphingoliposes are Autosomal Recessive except for Fabry's disease)
Autosomal/X-linked & Dominant/Recessive: Krabbe's disease
Autosomal Recessive

(All sphingoliposes are Autosomal Recessive except for Fabry's disease)
Autosomal/X-linked & Dominant/Recessive: Metachromatic leukodystrophy
Autosomal Recessive

(All sphingoliposes are Autosomal Recessive except for Fabry's disease)
Inheritance: Alpha-1 antitrypsin
AD
Inheritance: Achondroplasia
AD
Inheritance: Adult polycystic kidney disease
AD
Inheritance: Alport's Syndrome
AD
Inheritance: BOR syndrome
AD (BOR stands for Branchio-Oto-Renal syndrome)
None
Inheritance: Brachydactyly
AD
Inheritance: Actocephalosyndactyly
AD
Inheritance: Cleidocranial dysplasia
AD
Inheritance: Craniostenosis
AD
Inheritance: Crouzon's disease
AD
Inheritance: Glucokinase-deficient diabetes
AD
Inheritance: HNF-1alpha or HNF-4alpha deficiency diabetes
AD
Inheritance: Ehlers-Danlos syndrome
AD
Inheritance: Epidermolysis bullosa
AD
Inheritance: Familial hypercholesterolemia IIa
AD
None
Inheritance: Goldenhar's syndrome
AD
Inheritance: Heart-hand syndrome
AD
Inheritance: Hereditary spherocytosis
AD
Inheritance: Huntington's disease
AD
Inheritance: Marfan syndrome
AD
Inheritance: Myotonic dystrophy
AD
Inheritance: Neurofibromatosis
AD
Inheritance: Noonan's syndrome
AD
Inheritance: Osteogenesis imperfecta
AD
Inheritance: Treacher Collins syndrome
AD
Inheritance: Von Willebrand's disease
AD
Inheritance: Waardenburg's syndrome
AD
Inheritance: Williams-Beuren syndrome
AD
Inheritance: Alpha-thalassemia
AR
Inheritance: Adrenogenital syndrome
AR
Inheritance: Albinism
AR
Inheritance: Alkaptonuria
AR
Inheritance: Ataxia telangiectasia
AR
Inheritance: Beta-thalassemia
AR
Inheritance: Branched chain ketonuria
AR
Inheritance: Cystic fibrosis
AR
Inheritance: Cystinuria
AR
Inheritance: Dwarfism
AR
Inheritance: Erythropoietic porphyria
AR
Inheritance: Friedrich's ataxia
AR
Inheritance: Classic galactosemia
AR
Inheritance: Glycogen storage disease
AR
Inheritance: Hemoglobin C disease
AR
Inheritance: Wilson's disease
AR
None
Inheritance: Histidinemia
AR
Inheritance: Homocystinuria
AR
Inheritance: Hypophosphatasia
AR
Inheritance: Hypothyroidism
AR
Inheritance: Infantile polycystic kidney disease
AR
Inheritance: Laurence-Moon syndrome
AR
Inheritance: Mucolipidosis
AR
Inheritance: Mucopolysaccharidosis
AR
Inheritance: Peroxisomal disorders
AR
Inheritance: Phenylketonuria
AR
Inheritance: Premature senility
AR
Inheritance: Pyruvate kinase deficiency
AR
Inheritance: Retinitis pigmentosa
AR
Inheritance: Sickle cell anemia
AR
Inheritance: Tyrosinemia
AR
Inheritance: Duchenne muscular dystrophy
XR
Inheritance: Ectodermal dysplasia
XR
Inheritance: Fabry's disease
XR
Inheritance: Fragile X syndrome
XR
Inheritance: Hemophilia A
XR
Inheritance: Hemophilia B
XR
Inheritance: Hunter's syndrome
XR
Inheritance: Ichthyosis
XR
Inheritance: Kennedy's syndrome
XR
Inheritance: Kinky-hair syndrome
XR
Inheritance: Lesch-Nyhan syndrome
XR
Inheritance: G6PD deficiency
XR
Inheritance: Testicular feminization
XR
Inheritance: Wiskott-Aldrich syndrome
XR
Inheritance: Goltz-syndrome
XD
Inheritance: Hypophosphatemic rickets
XD
Inheritance: Incontinentia pigmenti
XD
Inheritance: Orofaciodigital syndrome
XD
Inheritance: Infantile bilateral striated necrosis
Mitochondrial
Inheritance: Kearns-Sayre syndrome
Mitochondrial
Inheritance: Leber's hereditary optic neuropathy
Mitochondrial
Inheritance: Cancer
Multifactorial
Inheritance: Cleft lip
Multifactorial
Inheritance: Cleft palate
Multifactorial
Inheritance: Clubfoot
Multifactorial
Inheritance: Congenital heart defects
Multifactorial
Inheritance: Coronary artery disease
Multifactorial
Inheritance: Epilepsy
Multifactorial
Inheritance: Hemochromatosis
Multifactorial
Inheritance: Hyperlipoproteinemia/Hyperlipidemia
Multifactorial (except IIa: AD)
Inheritance: Hypertension
Multifactorial
Inheritance: Legg-Calve-Perthes disease
Multifactorial
Inheritance: Pyloric stenosis
Multifactorial
Inheritance: Rheumatic fever
Multifactorial
Inheritance: Type I diabetes
Multifactorial
Inheritance: Type II diabetes
Multifactorial