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Biochemistry > Genetics Basis/Muts/Path > Flashcards

Genetics Basis/Muts/Path Flashcards

1
Q

3 Positions of Centromere

A

Metacentric
Submetacentric
Acrocentric

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2
Q

Pseudoautosomal Pairs (PARs)

A

X and Y share 2 regions of homology which undergo high levels of recombination

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3
Q

XIST

A

Gene only expressed on inactive X to cause inactivation

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4
Q

Lyon Hypothesis (3)

A

In female somatic cells, X inactivation occurs early, is random, and is clonal

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5
Q

Unbalanced or “Skewed” X Inactivation

A

When mutation of X linked disorder is on active X and normal allele on inactivated X, so a female carrier of X linked disorder can present with it

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6
Q

Prophase I

A

Time of recombination/crossing over

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7
Q

3 Types of Mutations

A

Numerical chromosome abnormalities
Structural Chromosome Abnormalities
Gene mutations

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8
Q

2 Kinds of Aneuploidy

A

Trisomy 21: 47 chroms, Down syndrome

Monosomy X: 45 chroms, Turner syndrome

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9
Q

Unbalanced Structural Abnormalities

A

Extra or missing chromosome portions can lead to a clinical phenotype

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10
Q

Balanced Structural Abnormalities

A

Misplaced chromosome portions not associated w/ clinical phenotype

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11
Q

Robertsonian Translocation

A

Occurs to combine acrocentric chromosomes, karyotype is 45 and progeny may have Down syndrome

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12
Q

Di/polygenic

A

Disease that is caused by the combined effect of mutations in two/multiple genes

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13
Q

Epigenetic Factors

A

Hereditary factors that are independent of actual DNA sequence

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14
Q

5 Mechs of Imprinting-Related Disorders

A 
Microdeletion w/ loss of nonimprinted gene copy
Uniparental disomy (UPD) - 2 homologous chroms from same parent
Mut in the nonimprinted copy of gene
Mut affecting the imprinting control region
Imbalance bw maternally and paternally imprinted genes that have an antagonistic effect
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15
Q

Important Result from Imprinting

A

***Have to inherit 1/2 of chromosomes from mom and 1/2 from dad

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16
Q

Pharmacogenetics

A

Study of the impact of single genetic variants on drug metabolism/action

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17
Q

Pharmacogenomics

A

Study of drug metabolism in relation to the whole genome or individual’s overall genetic constitution

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18
Q

Pharacokinetics

A

Representation of body’s action on the drug

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19
Q

Pharmacodynamics

A

Effect the drug has on the body

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20
Q

Therapeutic Window

A

Drug dosage that can treat disease effectively while staying in safety range

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21
Q

2 Phases of Drug Metabolism/Elimination

A

I: Modification of chemical, usually rendering it more polar so it can be assessed by subsequent enzymes
II: attachment of polar, ionizable group to the respected molecule (usually so it can be secreted)

22
Q

Cytochrome P450 (4)

A

Monooxygenase in microsomes (vesicles made from ER membranes) that often metabolize drugs and account for genetic variation causing individual variation to many medications

23
Q

Warfarin (4)

A

Anticoagulant with wide range of dosage whose effect depends on a cytP450 and an enzyme involved in clotting factor pathway

24
Q

Malignant Hyperthermia (4)

A

AD
Mutations in ryanodine R and calcium channel that lowers threshold for muscles to fire spontaneously, and anesthesia further lowers this level causing them to fire

25
Q

Pseudocholinesterase Variants

A

Defective variants of enzyme that breaks down muscle relaxants like succinylcholine, causing apnea that lasts for hours

26
Q

G6P Dehydrogenase Deficiency (3)

A

X linked so mainly affects males, reduced capacity to fight free radicals and get hemolytic crises

27
Q

Acute Intermittent Porphyria (3)

A

Autosomal dominant deficiency in enzyme in pathway for heme production - cyt p450 activating drugs like barbituates trigger

28
Q

4 Risk Factors for Dizygotic Twins

A

Ethnic background of mother
Maternal age
Reproductive medicine techniques
Undetermined genetic factors

29
Q

Twin-Twin Transfusion Syndrome

A

In monochorionic pregnancies only, one fetus transfuses blood into other twin, resutling in anemia, intrauterine growth retardation, and death in donor

30
Q

Conjoined Twins

A

Monozygotic twins whose failed separation results from twinning process initiating approximately 13 to 14 days after fertilization

31
Q

Turner Syndrome

A

Female w/ 1 X so no Barr bodies

32
Q

Fragile X Syndrome (3)

A

XLR so mainly in boys
Causes autism
From trinucleotide repeats

33
Q

Myotonic Dystrophy

A

Trinucleotide disease that presents earlier/more severely w/ more repeats

34
Q

Phenylketouria (4)

A

AR mutation of impaired phenylalanine hydroxylase activity, causing intellectual disability and seizures and others

35
Q

Pleiotropy

A

Different mutations in same gene can be responsible for development of different disorders

36
Q

Genetic Heterogeneity

A

Same disorder can be triggered by muts in different genes

37
Q

Osteogenesis Imperfecta (3)

A

Dominant negative mutation
2 Types: Type I (mild) collagen degraded after formed
Type II: (severe) mutated procollagen

38
Q

Prader Willi Syndrome (cause + 4 symptoms)

A

From lack of paternal gene, causes hypotonia, feeding problems, truncal obesity, hypogonadism

39
Q

Angelman Syndrome (cause + 4 symptoms)

A

From lack of maternal gene, causes severe ID, epilepsy, inappropriate laughter, ataxia

40
Q

Pallister-Killian Syndrome

A

Potentially lethal disorder w/ major visceral anomalies, pigmented skin, facial dysmorphism

41
Q

Incontinentia Pigmenti

A

XLD that affects ectodermal derivatives like skin/hair/teeth/nails/eyes/brain

42
Q

Neurofibromatosis (3)

A

Autosomal dominant disease w/ variable expressivity, can have just small lumps on skin or large internal/external plaque things

43
Q

Ectrodactyly (3)

A

Autosomal dominant split hand deformity w/ reduced penetrance

44
Q

Familial Testotoxicosis/Precocious Puberty

A

Male-limited autosomal dominant disorder

45
Q

Retinitis Pigmentosa

A

Dramatic locus heterogeneity that can cause progressive/peripheral visual loss and poor dark vision

46
Q

Pyloric Stenosis

A

Multifactorial disease w/ sex bias, 5:1 more common in males

47
Q

Cystic Fibrosis

A

AR disorder w/ respiratory and bowel problems, as well as male infertility

48
Q

Waardenburg Syndrome

A

AD problem causing hearing loss among other things

49
Q

Duchenne Muscular Dystrophy

A

XLR disease causing muscular development problems, resorting to Gower’s maneuver to stand

50
Q

Van der Woude Syndrome (4)

A

Autosomal dominance w/ reduced penetrance and variable expressivity
Can cause lip pits in mild or cleft lip in severe

Biochemistry (23 decks)

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