Terminology Flashcards

1
Q

What is complex heterozygote (aka genetic compound)?

A

An individual who has two different mutated alleles, one on each chromosome of the homologue pair

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2
Q

What is genomic imprinting?

A

The non-equvialent expression of genes, which is based on parent-of-origin (the Imprinted gene is Inactivated)

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3
Q

Define PCR

A

Enzymatic amplification of a fragment of DNA between a pair of primers

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4
Q

What is uniparental disomy (UPD)?

A

A case in which an offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent

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5
Q

What is genomics?

A

The study of the structure, function and interaction of the genome

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6
Q

What does dominant mean?

A

The trait is expressed even in heterozygote (one allele is enough for expression)

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7
Q

What is locus heterogeneity?

A

Mutation in many different loci (i.e., different genes) produce the same phenotype

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8
Q

What is heterozygote advantage?

A

A mechanism by which a recessive allele, though harmful in the homozygous condition, is maintained in a population because it provides some adaptive advantage in heterozygotes

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9
Q

What is driver mutation?

A

A mutation which confers a selective growth advantage

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10
Q

What is gene?

A

Unit of inheritance

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11
Q

Define sex-influenced characteristics

A

The phenotype is determined by autosomal genes that are readily more expressed in one of the sexes (there is a higher penetrance in one sex)

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12
Q

Define sex-limited characteristics

A

The phenotype is determined by autosomal genes whose expression is limited to only one of the sexes (due to hormones or enzymes in one of the sexes)

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13
Q

What is mutation?

A

Heritable and permanent changes in the DNA seqeunce

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14
Q

What does incomplete penetrance mean?

A

Although the individual carry the genotype, the phenotype is not expressed (P < 100%)

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15
Q

Define restriction endonuclease (enzymes)

A

An enzymes that recognized specific double-strand DNA sequence (recognition site) and cleave at or near the site

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16
Q

What is wild allele?

A

The most frequent allele in the population

17
Q

What is penetrance?

A

The probability of a genotype that it will manifest the trait (i.e., the phenotype)

18
Q

What is chimerism?

A

An individual composed of cells derived from two genetically different zygotes

19
Q

What is epigenetics?

A

A heritable mechanisms which affect the transcriptional state of a gene without changing the DNA sequence

20
Q

What is epistasis?

A

The interaction of two different genes that affect the same phenotype (usually describe the supression of one gene on the other)

21
Q

What is morphogene?

A

A soluble signaling molecule that has a role in the developing egg or embryo, depending on its concentration gradient

22
Q

What is haploid insufficiency?

A

A genetic cause in which the contribution of the normal allele is not enough to prevent the disease, because of loss-of-function mutation at the other allele

23
Q

What is allele?

A

Different variations of the same gene

24
Q

What is passenger mutation?

A

A mutation which does not affect the fitness of the tumor

25
Q

What is probe?

A

A cloned DNA or RNA fragment, labeled with fluoroscensce or another detectable tracer, used to identify its complementary sequences by molecular hybridization

26
Q

Define linkage disequilibrium (LD)

A

The non-random association of alleles at two or more loci that may or may not be on the same chromosome

27
Q

What is genome?

A

The total hereditary information

28
Q

Define gel electrophoresis

A

Separation of DNA, RNA or proteins by size (molecular weight)

29
Q

What is ploidy?

A

The number of sets of chromosomes in a cell

30
Q

What is variable expression (aka expressivity)?

A

The extent at which the genetic defect is expressed

31
Q

What is mosaicism?

A

An individual or a tissue having two cell lines differing in the genotype, derived from a single zygote

32
Q

What does recessive mean?

A

The trait is expressed in homozygote (two alleles are required for expression)

33
Q

What is allele heterogeneity?

A

Different mutation in the locus (i.e., different alleles of the same gene) produce the same phenotype

34
Q

What is polymorphism?

A

DNA variation with known population frequency

35
Q

What is locus?

A

The position of a gene on the chromosome

36
Q

What is multiple allelism?

A

A gene may have more than 2 alleles in the population

37
Q

What is pleiotropy?

A

One gene which has multiple phenotypes

38
Q

What is phenotype?

A

A visible trait