Module 6: Genetic/Congenital Disease & the Effect of Ageing on Health Flashcards

1
Q

Allele

A

One of two forms of a gene at corresponding sites on a chromosome pair; the code for characteristics manifested in an individual

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2
Q

Autosomes

A

Any chromosome that is not a sex chromosome

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3
Q

Genotype

A

The genetic makeup of a cell or individual

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4
Q

Phenotype

A

The characteristics manifested by a person depending on genetic and environmental factors

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5
Q

Heterozygous

A

Having two different alleles at corresponding points on a chromosome pair

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6
Q

Homozygous

A

Having two identical alleles at corresponding points on a chromosome pair

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7
Q

Gene

A

A unit of DNA in a particular location on a specific chromosome

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8
Q

Aneuploidy

A

A variation in the number of chromosomes

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9
Q

Trisomy

A

A condition characterised by three copies of one particular chromosome

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10
Q

Monosomy

A

A genetic condition where one homologous chromosome is short of its partner. The diploid number will be one less of a normal set

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11
Q

Diploid

A

A cell with a full set of chromosomes (46)

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12
Q

Haploid

A

A cell with a half set of chromosomes (23)

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13
Q

Dominant trait

A

Trait that will have greater influence over a pair of alleles

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14
Q

Recessive trait

A

Trait that can be carried in a person’s genes without appearing in that person

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15
Q

Sex chromosomes

A

The one pair of human chromosomes within the set of 23 pairs that determine the sex of the person

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16
Q

Deletion

A

When a chromosome breaks and some genetic material is lost

17
Q

Carrier

A

An individual who has an inherited genetic mutation for a condition or disease, but does not express any symptoms

18
Q

Multi-factorial inheritance

A

Inheritance where multiple genes, and possibly the environment, interact to determine the particular genetic characteristics

19
Q

Mutation

A

A change in the genetic makeup (DNA) of a cell, which will be inherited