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Biology 101 flashcards
1
Q

Germline Mosaicism

A

can result from mitotic nondisjunction event in germline cell precursor

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2
Q

Reciprocal Translocation Segregation Patterns

A

Alternate, Adjacent 1, and Adjacent 2

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3
Q

Contiguous Gene Syndromes

A

Abnormal phenotypes caused by over expression or loss (haplosufficiency) of neighboring genes. ex. Charcot-Marie-Tooth CMT1A1 and Hereditary Neuropathy w/ Liability to Pressure Palsies, duplication or deletion on 17p11.2, PMP22 protein

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4
Q

CYP3A

A

Substrates: Felopidine, Cyclosporine. Inhibitors: Ketoconazole, Grapefruit Juice. Inducers: Rifamipicin.

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5
Q

CY2D6

A

Substrate: Codieine

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6
Q

CYP2C9 and VKORRC1

A

Warfarin

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7
Q

NAT

A

Isonadid for Tuberculosis

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8
Q

TMPT

A

Substrate: 6-mercaptopurine and 6-thioguanine. (if children with ALL is absent in TMPT gene, these drugs will kill them.

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9
Q

G6PD

A

Sulfonamide antibiotics, and Dapsone. G6PD deficient individuals are susceptible to hemolytic anemia after drug exposures.

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10
Q

Non-Random X Chromosome Inactivation

A

Structurally Abnormal X is inactivated.

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11
Q

Skewed X Inactivation

A

More normal gene is turned off; X-linked recessive conditions are observed.

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12
Q

Deny’s Drash and Frasier Syndrome

A

Sex reversal for 46, XY due to mutations of WT1 gene (txn factor for SRY); kidney disease and increased risk for Wilm’s Tumor.

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13
Q

Diseases Associated with Loss of Function

A

Duchenne Muscular Dystrophy, alpha Thalassemia, Hereditary Retinoblastoma, Hereditary Neuropathy w/ Liability to Pressure Palsies. Osteogenesis Imperfecta Type I.

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14
Q

Diseases Associated with Gain of Function

A

Hemoglobin Kempsey, Achondroplasia, Alzheimer’s Disease in Trisomy 21, Charcot-Marie-Tooth Type 1A.

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15
Q

Diseases Associated with Novel Property Mutation

A

Sickle Cell and Huntington Disease

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16
Q

Diseases Associated with Ectopic/Heterochronic Expression Mutation

A

Cancers and Hereditary Persistance of Fetal Hemoglobin.

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17
Q

Three Principle Pathogenic Mechanisms, Consequences and Examples

A
  1. Expansion of Non-coding region + loss of function (impaired txn, Fragile X and Freidrich Ataxia)
  2. Expansion of Non-coding regions + novel property (RNA w/ novel mutant RNA, no protein. Myotonic Dystrophy Types 1 and 2, and FXTAS)
  3. Expansion of codons in exons (novel prop, mutant RNA, and mutant protein. Huntington Disease)
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18
Q

Mutation in Transcription

A

Thalassemia and HPFH

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19
Q

Mutation in Translation

A

Thalassemia

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20
Q

Mutation in Polypeptide Folding

A

Hb Hammersmith; or really any Hemoglobinopathies

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21
Q

Mutation in Post-Trn Modification

A

I-cell –> no phosphorylation.

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22
Q

Mutation of Monomers in Holomeric Proteins

A

Osteogenesis Imperfecta

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23
Q

Mutation in Subcellular Localization

A

Familial Hypercholesteremia

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24
Q

Mutation in Cofactors

A

Homocysturnia w/ cofactor pyridoxal phosphate

25
Q

Mutation in Normal Protein

A

Hb Kempsey

26
Q

Genes on alpha cluster

A

zeta, alpha 2, alpha 1

27
Q

Genes in beta cluster

A

epsilon, gammaG, gammaA, delta, beta

28
Q

Beta-Thalassemia

A

Deletion of LCR of beta cluster causes no beta globin synthesis, and leads to alpha globin chains.

29
Q

Hb Gower I

A

zeta-epsilon

30
Q

Hb Gower II

A

alpha epsilon

31
Q

Hb Portland

A

zeta-gamma

32
Q

Most Structural Variants of Hemoglobin is found on what chain?

A

Beta globin chain

33
Q

Hemoglobin SC Disease

A

Compound Heterozygotes (Bs/Bc) w/ milder anemia than full sickle cell disease.

34
Q

Restriction Enzyme MstII

A

Can distinguish between Ba and Bs, but not Ba and Bc.

35
Q

Types of alpha-Thalassemia

A

(–/–) hydrops fetalis, HbBart, SE Asia. (a-/–) Severe anemia, HbH (Beta4). (aa/–) and (a-/a) Trait. Mild Anemia. (aa/a-) Silent carrier, no phenotype.

36
Q

Beta Thalassemia Major and Beta Thalassemia Minor

A

Major: severe anemia, thinning cortex, enlarged liver and spleen, iron accumulation. “Cooley’s Anemia”
Minor: clinically normal; carriers of one beta thalassemia allele. “Trait”

37
Q

Hereditary Persistance to HbF Mechanisms

A

1) enhance y globin gene 2) remove y globin gene repressor. Disease free b/c 17-35% of normal hemoglobin.

38
Q

Hemoglobinopathies by Regions

A

SE Asia: alpha and beta thalassemia and HbE
Africa: alpha and beta thalssemia and HbS, HbC
West Pacific: alpha and beta thalassemia and HbE
East Mediterranean: B thalassemia and HbE

39
Q

Beta-Thalassemia Intermediate

A

Both beta globin genes are mutated, but mild-moderate severity.

40
Q

Autosomal Recessive Disorders

A

PKU, alpha-1 Antitrypsin Deficiency, Tay Sach’s, Sandoff Disease, Sickle Cell, Hemoglobin C Disease

41
Q

Autosomal Dominant Disorders

A

Achondroplasia, Retinoblastoma, Huntington Disease, Neurofibromatosis Type 1, Osteogenesis Imperfecta Type I, Marfan Syndrome, Polycystic Kidney Disease, Familial Hypercholesterolemia, Myotonic Dystrophy Type I.

42
Q

X-Linked Dominant Disorders

A

Hypophosphatemic Rickets, Rett Syndrome, Fragile X Syndrome

43
Q

X-Linked Recessive Disorders

A

Lesch Nyhan, Duchnenne Muscular Dystrophy, Becker Muscular Dystrophy, DMD-Associated Dilated Cardiomyopathy, Hemophilia A

44
Q

Mitochondrial Diseases

A

Kearns-Sayre, MELAS, MEERF, and Leber Hereditary Optic Neuropathy

45
Q

Finding Disease Genes Hypothesis Driven

A

1) Candidate Gene DNA Sequencing - hope to get “hit”from GWAS
2) Candidate Gene Association Studies- testing gene/ causal variant indirectly, case control study design

46
Q

Finding Disease Genes Hypothesis-Free Driven

A

1) Genetic Linkage Analysis- Searching for segments disproportionately coinherited, best for Mendelian Traits (LOB > or = 3.0 = proof that gene is linked)
2) Genome Wide Association Study- test many across genome.

47
Q

Genetic Tests (w/ Less Restrictive Definitions)

A

1) Biochemical Tests- PKU, Maple Syrup Urine Disease
2) Enzyme Activity Assays (Gaucher’s Disease)
3) Protein Electrophoresis (Sickle Cell Disease)
4) Lipid Levels (Familial Hypercholesterolemia)
5) X-rays (Achondroplasia)
6) Ultrasound (Polycystic Kidney Disease and Hypertrophic Cardiomyopathy)
7) Sweat Chloride Test (Cystic Fibrosis)
8) Skin Examination (Albinism)

48
Q

Chromosomal Analysis

A

Use when there is suspected abnormality of chromosome number or structure. Can diagnose aneuploidies, chromosome deletion, duplications, large insertions, and rearrangements. Cannot diagnose single gene deletions, point mutations, small deletions, duplications, insertions, methylation defects, trinucleotide repeat abnormalties.

49
Q

Fluorescent IN SITU Hybridization

A

Detect cytogenetic changes that are at or beyond limits or resolution by Chromosomal Analysis. Uses cells in interphase. Can diagnose microdeletion syndromes, chromosomal rearrangements in cancers, gene copy # in cancers, also useful in diagnosing aneuploidies in prenatal settings.

50
Q

Chromosomal Microarray Analysis

A

Smaller genomic deletions and duplications. Aneuploidies and unbalanced chromosomal rearrangements.

51
Q

DNA Sequencing

A

Mutation detection. Need to know following: suspect a specific genetic diagnoses. Gene must have been identified. Mutation must be detectable by sequencing. Mutation must be located in region of gene that is actually sequenced.

52
Q

Tx Approaches to Metabolic Disorders

A
  1. Avoidance: Antimalarial Drugs in G6PD deficiency. Barbiturates in Acute Intermittent Porphoria.
  2. Dietary Restriction: Avoid Phe in PKU. Avoid Galactase in Galactosemia.
  3. Replacement: Thyroxine in Congenital Hypothyroidism. Biotin in Biotinidase Deficiency.
  4. Diversion: Sodium Benzoate in Urea Cycle Deficiency. Oral Resins in Hypercholesterolemia (Heterozygotes).
  5. Inhibition: Statin Drugs in Hypercholesterolemia (Heterozygotes)
  6. Depletion: LDL Apheresis in Hypercholesterolemia (Homozygotes)
53
Q

Tx Approaches to Protein Disorders

A

1) Cofactor Administration (pyroxidine-responsive homocysturnia and biotinadase deficiency)
2) Replace extracellular protein (Factor VIII in hemophilia and alpha-1-antitrypsin)
3) Replace intracellular protein (ADA deficiency)
4) Target intracellular protein (Gaucher and Fabry Disease)

54
Q

Protein Replacement in Fabry Disease

A

Deficiency in galactosidase. Accumulation of Glycosphingolipids. Neuron damage, sweat gland damage, renal damage, vascular damage, cardiovascular.

55
Q

Gene Therapy with Retroviral

A

RNA viruses. Integration into cell genome with minimal host cell immune rxns. Size limited, and infects only dividing cells. Risk of insertional mutagenesis and germline mutation. Integration will pass on to daughter cells.

56
Q

Gene Therapy with Adenoviral

A

DNA viruses. Affects variety of cells types, large insert size, and high titers. No integration into genome, transient expression. Reduce risk in insertional mutagenesis, but can have immune rxns. Typically short-lived.

57
Q

Gene Therapy with Non-Viral

A

Lysosomes or direct DNA. Insert size large, minimal immune response. Low efficiency; transient. Does not integrate in genome. Often degraded by cellular mechanisms. Typically short-lived.

58
Q

Manipulation of Gene Expression

A
  • Suppression of gene expression
  • Manipulation of pre-mRNA splicing
  • Small interfering RNA can degrade mRNA transcripts
  • MicroRNAs can supress protein translation.
  • Anti-sense oligonucleotides can suppress splicing.
59
Q

Nonsyndromic Deafness

A
  • retinitis pigmentosa –> Usher.
  • thyroid goiter –> Pendred
  • sudden death –> Jervell and Lange Nielson
  • white forelock –> Waardenburg
  • 8th nerve -schwannomas –> Neurofibromatosis Type II

m2m Genetics (3 decks)

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