Modern Understanding of Inheritance Flashcards

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1
Q

Chromosomal Theory of Inheritance

A

Which states that chromosomes carry the unit of heredity (genes).

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2
Q

Karyotype

A

the number and appearance of chromosomes

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3
Q

Autosomes

A

“body chromosomes” (all of the non-sex chromosomes) are generally organized in approximate order of size from largest (chromosome 1) to smallest (chromosome 22)

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4
Q

Monosomy

A

loss of one chromosome

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5
Q

Trisomy

A

gain of an extra chromosome

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6
Q

Monosomic human zygotes

A

missing any one copy of an autosome invariably fail to develop to birth because they lack essential genes

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7
Q

Tay-Sachs Disease

A

lack of the enzyme that breaks down fatty acid proteins in lysosomes results in accumulation

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8
Q

Cystic Fibrosis

A

Cl ions do not pass normally through a cell membrane, resulting in thick mucus in lungs and other places, causing infections

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9
Q

Phenylketonuria (PKU)

A

lack of enzyme needed to make a certain amino acid; affects nervous system development

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10
Q

Sickle-Cell-Disease

A

red blood cells are sickle-shaped rather than biconcave, resulting in clogged blood vessels

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11
Q

Marfan Syndrome

A

defect in the production of the elastic connective tissue protein fibrillin; results in dislocated lens, long limbs, and fingers, caved-in chest, and weak wall of aorta

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12
Q

Osteogenesis imperfecta

A

defect in collagen synthesis; resulted in weakened, brittle bones

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13
Q

Huntington’s disease

A

Huntington’s protein has too many glutamine amino acids, leading to the progressive degeneration of brain cells

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14
Q
A
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