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Genetics > Genetic Hx & Pedigree > Flashcards

Genetic Hx & Pedigree Flashcards

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Biology 101 flashcards
1
Q

scientific study of the principles of heredity and the variation of observable features among organisms

A

Genetics

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2
Q

study of genetics in people.

A

Human Genetics

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3
Q

sub-set of human genetics that explores the genetic contributions to the etiology, pathogenesis, and natural history of diseases and disorders

A

Medical Genetics

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4
Q

the diagnosis, prognosis and, in some cases, the treatment of genetic diseases.

A

Clinical Genetics

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5
Q

pathophysiology of the disorder is based in changes in the DNA

A

Genetic

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6
Q

the DNA change is in the germ cells

A

Hereditary

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7
Q

runs in the family

i.May not always be genetic– common environment

A

Familial

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8
Q

the discipline of genetics that focuses at the level of the genome

A

Genomics

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9
Q

the information about the patient from genetic tests results.

A

Genotype

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10
Q

what you observe about the patient

A

Phenotype

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11
Q

cytogenetic analysis to determine the number and structure of chromosomes as seen through microscopic views of prepared cells from an individual’s tissue

A

Karyotype

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12
Q

the copying of DNA to a complementary segment of mRNA

A

Transcription

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13
Q

the copying of mRNA to protein

A

Translation

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14
Q

in karyotype analysis, abnormalities of chromosome structure may be seen.

A

Chromosomal abberation

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15
Q

changes in whole chromosome numbers

type of chromosomal abberation

A

Aneuploidy

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16
Q

any change/deviation from the normal DNA code

A

Mutation

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17
Q

type of point mutation that results in a premature stop codon (and thus a truncated protein product) (type of mutation)

A

Nonsense

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18
Q

type of point mutation that changes the nucleotide sequence

(type of mutation)

A

Missense

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19
Q

type of point mutation that results in a shift in the reading frame disrupting all of the downstream nucleotide triplets
(type of mutation)

A

Frameshift

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20
Q

an alteration in a gene that is present for the first time in one family member as a result of a mutation in a germ cell of one of the parents OR in the fertilized egg itself

A

De novo

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21
Q
  1. As an individual lives out his / her life, the natural history of an individual includes the accumulation of mutations.
A

Somatic

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22
Q

mutations at different loci causing the same or similar phenotypes

A

Gene Locus/locus heterogeneity

23
Q

different mutations at the same locus causing the same or similar phenotype

A

Allele/allelic heterogeneity

24
Q

the simultaneous occurrence in the same locality of 2 or more discontinuous forms in such proportions that the rarest of them can’t be maintained just by recurrent mutation or immigration

A

Polymorphism

25
Q

for a given condition, the proportion of patients who show clinical signs of the disorder

A

Penetrance

26
Q

a congenital structural variation or abnormality which is the result of external physical forces

A

Deformation

27
Q

modifying gene function without changing sequence

A

Epigenetic

28
Q

recognizable patterns of malformations due to loss or gain of a chromosomal segment containing several consecutive genes

A

Contiguous gene syndrome

29
Q

a congenital abnormality which is the result of a destructive event or process, leading to incomplete or abnormal function

A

Disruption

30
Q

multiple clinical effects of a single gene

A

Pleiotropy

31
Q

two or more malformations, which have been found (on a population basis) to occur together more often than would be predicted by chance, but not necessarily due to a specific causal entity

A

Association

32
Q

sharing of a common relative by two individuals

A

Consanguinity

33
Q

a recognizable pattern of congenital anomalies due to disruption of a common primordial tissue

A

Field defect

34
Q

using microchips with thousands of wells imbedded with a variety of different types of probes to screen large parts of the genome

A

Chromosomal microarray

35
Q

an agent capable of inducing one of more malformations in a developing embryo

A

Teratogen

36
Q

the relatively high frequency of a particular allele in the gene pool that occurs as the result of a new isolated population being founded by a small number of individuals possessing limited genetic variation

A

Founder affect

37
Q

Autosomal dominant

A

the locus is on an autosomal chromosome and only one mutant allele is required for expression of the phenotype
i. Typically have affected parents (may not with a new mutation)

38
Q

Autosomal Recessive

A

the locus is on an autosomal chromosome and both alleles must be mutant alleles to express the phenotype

39
Q

X linked dominant

A

the locus is on the X chromosome and only one mutant allele is required for expression of the phenotype in females
i. Males and females are BOTH affected but the disease is usually worse in males

40
Q

X linked recessive

A

the locus is on the X chromosome and both alleles must be mutant alleles to express the phenotype in females
i. ONLY males are affected with females being carriers

41
Q

Holandric

A

Y-linked inheritance

42
Q

repeating units of 3 nucleotides distributed in a nonrandom fashion across the genome

A

Trinucleotide repeat expansion

43
Q

the apparent worsening of a heritable condition as it is passed down through generations

A

Trinucleotide anticipation

44
Q

when some people with the mutation don’t develop features of the disorder

A

Reduced penetrance

45
Q

different degrees of clinical expression given the same genotype

A

Variable expressivity

46
Q

a hypothetical genetic regulatory mechanism which operates to equalize the phenotypic expression of characteristics determined by genes on the X chromosome so they are equally expressed in the male and female

A

Dosage compensation

47
Q

in females (who have 2X chromosomes) 1X chromosome is inactivated in every cell

A

X chromosome inactivation (AKA Lyonization)

48
Q

inheritance of 2 copies of the same chromosome number from one parent

A

Uniparental disomy

49
Q

the appearance of dominant transmission of a condition in a pedigree that is actually due to a recessive condition occurring when the recessive allele is sufficiently common in the general population

A

Quasidominant inheritance

50
Q

pre-programming of the expression of specific genes

A

Imprinting

51
Q

both genetic and environmental factors have significant contributions to the phenotype

A

Multifactorial

52
Q

only germ cells have mutation (50% chance the child will also have it)

A

Germline (or gonadal) mosaicism

53
Q

Gold standard for comprehensive 3 generational genetic hx

A

showing 3 generations (patient + patient’s parents + patient’s grandparents)

Genetics (1 decks)

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