Lecture 1: Introduction and Definitions Flashcards

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1
Q

Acquired

A

Somatic change occuring after birth, usually cancer related.

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2
Q

Allele

A

Particular copy of agene on a chromosome.

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3
Q

AMA

A

Advanced maternal age.

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4
Q

Anticipation

A

The tendency of certain disorders to appear at earlier ages and/or with increased severity in successive generations.

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5
Q

cfDNA

A

Cell free DNA– fragments of DNA found in the serum of blood.

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6
Q

Chimera

A

Cell lines from two individuals (bone marrow transplant.

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7
Q

Compound Heterozygote

A

An individual with two different abnormal alleles at one locus (i.e. two different disease-causing mutations in the same gene on different chromosomes).

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8
Q

Congenital

A

Present at birth (clinical genetics term.

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9
Q

Cosanguinity

A

Being related by blood to one’s reproductive partner (i.e. cousins who have children together).

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10
Q

Constitutional

A

Present at birth, usually in all cells (cytogenetic term).

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11
Q

CVS

A

Chorionic villus sampling - a prenatal diagnosis.

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12
Q

Epigenetics

A

Something which changes gene expression without altering the DNA sequence (i.e. methylation).

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13
Q

FTT

A

Failure to thrive – doesn’t put on weight, etc.

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14
Q

Genotype

A

Genetic makeup of an individual.

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15
Q

Germline

A

Occuring in the cells of the gonads.

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16
Q

Hemizygous

A

Males are hemizygous with respect to genes on the X chromosome (rather than homozygous or heterozygous) since they have only one X.

17
Q

Heterozygous

A

The alleles at a specific locus are different (Aa).

18
Q

Homozygous

A

Both alleles at a specific locus are the same (AA or aa).

19
Q

Hypertelorism

A

Widely-spaced eyes.

20
Q

Inherited

A

Passed on from a parent.

21
Q

Karyotype

A

The number and appearance of chromosomes in the cell nucleus.

E.g. 46,XX or 46XY

22
Q

Locus

A

The site (location) on the chromosome at which a gene is located (plural: loci)

23
Q

MoM

A

Multiples of the mean – a measure used in prenatal testing.

24
Q

Mosaic

A

Two or more cell lines derived from the same individual.

25
Q

MRI

A

Magnetic Resonance Image.

26
Q

Obligate Carrier

A

Parent of a child with a recessive condition.

27
Q

Pathogenetic

A

Change that results in disease.

28
Q

Penetrance

A

The proportion of individuals who have a known gene mutation who express any of the clinical symptoms associated with the disorder.

29
Q

PGD

A

Preimplantation genetic diagnosis.

30
Q

Phenotype

A

Outward appearance of an individual.

31
Q

SAB

A

Spontaneous abortion, or miscarriage.

32
Q

Somatic

A

Occurring in all cells, excluding the gonads.

33
Q

Trimester

A

A division of pregnancy.

First: Weeks 1 - 13
Second: Weeks 14 - 26
Third: Weeks 27 -40

34
Q

US

A

Ultrasound

35
Q

Variable Expressivity

A

The same genetic condition can present with different clinical symptoms (phenotypes) in different individuals, even in individuals with identical mutations (genotypes)