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124 Cards in this Set
- Front
- Back
Name the type of inheritance
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Autosomal Dominant
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Type of Inheritance
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Autosomal recessive
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Type of Inheritance
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Mitochondrial
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Type of Inheritance
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X Linked Dominant
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Type of Inheritance
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X linked Recessive
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Autosomal dominant CHARACTERISTICS
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Both sexes equally affected
Vertical transmission Father-to-son transmission Affected individuals transmit trait to ~50% offspring |
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Autosomal recessive CHARACTERISTICS
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Both sexes equally affected Usually no prior family
history Consanguinity Mating between two carriers transmits trait to ~25% offspring |
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X-linked dominant CHARACTERISTICS
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Vertical transmission
NO father-to-son transmission Females twice as likely to be affected as males Affected males cannot transmit disease to sons, but transmit it to 100% daughters. |
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X-linked recessive CHARACTERISTICS
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Disease can skip generations by carrier females.
NO father-to-son transmission. Males are much more frequently affected than females. |
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Mitochondrial CHARACTERISTICS
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Both males and females can be affected.
Only females can transmit the disease. |
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What two models for understanding Multifactorial inheritance?
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Additive polygenic model for quantitative traits.
Threshold model for qualitative traits. |
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Autosomal dominant diseases (5)
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Huntington disease
Achondroplasia NF type 1 Marfan syndrome Familial hypercholesterolemia |
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Autosomal recessive diseases 3
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Hurler syndrome
Hereditary hemochromatosis Cystic fibrosis |
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X-linked dominant diseases
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Fragile X syndrome
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x linked recessive diseases
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Hemophilia A and B
Lesch-Nyhan syndrome Duchenne muscular dystrophy Becker muscular dystrophy Red-green color blindness Severe combined immunodeficiency OTC deficiency |
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Mitochondrial
diseases |
CPEO
LHON MELAS MERFF Kearns-Sayre syndrome Leigh syndrome Pearson syndrome |
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Multifactorial diseases
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Diabetes
Coronary artery disease Obesity Alcoholism Infantile autism Schizophrenia Cancer Cleft lip/palate Pyloric stenosis Club foot Spina bifida |
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Mode of Inheritance Huntington Disease
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Autosomal Dominant
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What is the gene defect in
Scickle cell |
B-globin
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What is the gene defect in tay-Sachs
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HexA
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What is the gene defect in B-thalassemia
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B globin
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What is the gene defect in cystic fibrosis
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CFTR
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What is the gene defect in
a-thalassemia |
a globin
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What is the gene defect in
hurler syndrome |
a-L-iduronidase
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What is the gene defect in hereditary hemochromatosis
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HFE
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What is the gene defect in Neuofibromatosis Type 1?
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NF1
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What is the gene defect in CHarcot Marie Tooth disease/
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PMP22
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What is the gene defect in Huntington Disease
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HTT
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What is the gene defect in achondroplasia
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FGFR-3
fibroblast growth factor receptor 3 |
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What is the gene defect in Familial Hypercholesterolemia
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LDL Receptor
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What is the gene defect in Osteogenisis Imperfecta
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Chrom 17, ColA1 or
Chrom 7 ColA2 |
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What is the gene defect in Retinoblastoma
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Chromosome 13 q14.1-2
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What is the gene defect in Myotonic dystrophy
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DMPK gene, codes for
myotonic dystrophy protein kinase |
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What is the gene defect in Male Pattern Baldness
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DHT
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What is the gene defect in Hemophilia B
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Factor 9
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What is the gene defect in Hemophilia A
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Factor 8
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What is the gene defect in Red-Green Color Blindness
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Opsin
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What is the gene defect in Duchenne Muscular Dystrophy
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Dystrophin
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What is the gene defect in Becker Muscular Dystrophy
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Dystrophin
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What is the gene defect in Fragile X syndrome?
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FMR1
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What is the gene defect in Prader-Willi Syndrome
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Chromosome 15 q11-13 deletion from father
SNRPN |
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What is the gene defect in Angelman Syndrome
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Chromosome 15 q11-13 deletion from mother
UBE3A |
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What is the MOI for Leber Hereditary Optic Neuropathy
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Mitochondrial
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What is the MOI for Myoclonic epilepsy w/ragged red fiber disease (MERFF)
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Mitochondrial
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What is the MOI for Kern-Sayre
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Mitochondrial
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What is the MOI for Leigh Syndrome
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Mitochondrial
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What is the MOI for Mitochondrial Encephalomyopathy, lactic acidosis, stroke like episodes (MELAS)
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Mitochondrial
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What is the MOI for Pearson syndrome
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Mitochondrial
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What is the MOI for Chronic Progressive External Ophthalmoplegia?
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Mitochondrial
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What is the MOI for Tay-Sachs
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Autosomal Recessive
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What is the MOI for Sickle Cell disease?
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Autosomal Recessive
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What is the MOI for B-Thalassemia
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Autosomal Recessive
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What is the MOI for Cystic Fibrosis
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Autosomal Recessive
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What is the MOI for a-thalassemia
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Autosomal Recessive
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What is the MOI for Hurler Syndrome
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Autosomal Recessive
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What is the MOI for Hereditary Hemochromatosis?
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Autosomal Recessive
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What is the MOI for Male Pattern Baldness
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Autosomal Dominant in Males
Autosomal Recessive in Females |
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What is the MOI for Neurofibromatosis Type 1?
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Autosomal Dominant
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What is the MOI for Charcot-Marie Tooth
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Autosomal Dominant
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What is the MOI for Huntington Disease
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Autosomal Dominant
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What is the MOI for Achondroplasia
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Autosomal Dominant
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What is the MOI for Familial Hypercholesteroemia
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Autosomal Dominant
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What is the MOI for Osteogenisis Imperfecti
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Autosomal Dominant
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What is the MOI for Retinoblastoma
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Autosomal Dominant
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What is the MOI for Myotonic Dystrophy
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Autosomal Dominant
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What is the MOI for Hemophilia B
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X Linked recessive
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What is the MOI for Anhydrotic Ectodermal Dysplasia
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X Linked Dominant
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What is the MOI for Hemophilia A
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X Linked recessive
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What is the MOI for Red-Green Color Blindness
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X- Linked Recessive
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What is the MOI for Duchenne Muscular Dystrophy
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X- Linked Recessive
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What is the MOI for Becker Muscular Dystrophy
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X- Linked Recessive
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What is the MOI for Fragile X Syndrome
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X- Linked Dominant
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What is the MOI for Prader-Willi
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Other
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What is the MOI for Angleman Syndrome
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Other
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Name 3 Pleiotropic Diseases
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Cystic Fibrosis
Marfan Syndrome von Gierke |
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What diseases fall under the category of Point mutation?
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hemophilia b
tay sachs NF1 Sickle Cell B-thalasemia |
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What diseases fall under the category of missense
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Sickle-cell anemia
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What diseases fall under the category of nonsense
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Neurofibromatosis
type 1 |
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What diseases fall under the category of Splice site mutation
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Tay-Sachs
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What diseases fall under the category of Deletion
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a thalassemia
Cystic Fibrosis |
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What diseases fall under the category of Insertion
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Tay-Sachs
Charcot Marie Tooth |
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What diseases exhibit the following complication?
New (de novo) mutation |
Achondroplasia
NF type 1 |
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What diseases exhibit the following complication?
Germline mosaicism |
Osteogenesis imperfecti
Anhidrotic ectodermal dysplasia |
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What diseases exhibit the following complication?
Delayed age of onset |
Huntington disease
Hereditary hemochromatosis |
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What diseases exhibit the following complication?
Reduced penetrance |
Retinoblastoma (90%)
Fragile X in Females |
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What diseases exhibit the following complication?
Variable expression |
NF type 1
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What diseases exhibit the following complication?
Pleiotropy |
Cystic fibrosis
Diabetes Marfan syndrome von Gierke disease |
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What diseases exhibit the following complication?
Heterogeneity |
Osteogenesis imperfecti
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What diseases exhibit the following complication?
Genomic imprinting |
Prader-Willi syndrome
Angelman syndrome |
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What diseases exhibit the following complication?
Anticipation |
Myotonic dystrophy
Fragile X syndrome Huntington disease |
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What diseases exhibit the following complication?
Consanguinity |
Rare autosomal recessive diseases
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What is the gene defect in Marfan Syndrome?
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FBN1
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What is the MOI in Marfan Syndrome
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Autosomal Dominant
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What is the MOI of Severe combined immunodeficiency?
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X-Linked Recessive
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What is the MOI of OTC deficiency?
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X-Linked Recessive
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What is the MOI for severe combined immunodeficiency?
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X-Linked Recessive
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What is the MOI for Lesch -Nyhan?
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X-Linked Recessive
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Mode of Inheritances for PKU?
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Autosomal Recessive
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What is the occurrence risk/recurrence risk like for germline mosiacism?
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Both high. Mutation is in germ cells.
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What is the occurrence risk/recurrence risk like for geonomic imprinting?
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Both Low. Genomic imprinting is like a "new deletion" so it would be extremely rare for a second child to exhibit the disease.
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What is the exception to the rule that X linked dominant diseases are more prevalent in females?
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Fragile X
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What three dieases show antcipation?
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Huntington
Fragile-X Myotonic Dystrophy |
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What does concordance measure?
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The presence of the same PHENOTYPE in two twins.
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What does low HGB indicate?
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Anemia
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What does a low or within range CR count indicate?
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Anemia do to insufficient blood production.
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What does a high CR count indicate?
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Anemia due to destruction or loss of cells.
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What does a low MCV indicate?
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Microcytic cells due to impared HGB synthesis most likely due to iron insufficiency.
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What does a HIGH MCV indicate?
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Macrocytic cells due to limited DNA synthesis, most likely due to folate or Vitamin b12 deficiency
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What are examples of anemia due to distruction or loss?
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Premature RBC Destruction
Premature "Blase" Destruction Acute blood loss |
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What would cause premature RBC destruction?
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sickle cell anemia
G6PD Deficiency |
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What would cause Premature blast destruction?
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Thalassemias
(usually microcytic, hypochromic) |
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When do you use the multiplication rule?
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For "and" occurrences
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When do you use the addition rule?
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For "or" occurrences
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AR diseases can be predicted using what probability equation?
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chance of mother having one disease allele x chance of baby inheriting from mother x chance that father is carrying one allele for the disease x chance of inheriting defective gene from the father
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formula for mcv
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hct/rbc x10
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formula for mch
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hgb/rbc x10
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rule of 3's
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rbc x 3 = hgb
hgb x 3 = hct |
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formulas for MCHC (2)
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hgb/hct x 100
or MHC/MCV x 100 |
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Solve for CR
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pt HCT/mean "normal" HCT x or
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Average RBC count
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5 x 10^6 uL
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Average HGB
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15g/dL
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Average HCT
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45%
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What is Hematocrit
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The portion of blood volume that is RBC's
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List the 3 Trisomies, their chromosomal name, common name and man characteristics
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21-Downs Syndrome: Facial Features
18-Edwards; crossed fingers, clenched fists 13-Patau: (cleft) palate, polydactyly |
