Lecture 1

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13 Terms

1

Chromosome Disorder

Caused by excess or deficiency of all/part of a chromosome; accounts for ~50% of spontaneous abortions and occurs in 7 in 100 live births.

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2

Single-gene disorder

A disorder caused by a mutation in one or both copies of a single gene, affecting approximately 2% of the population.

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3

Multifactorial disorder with complex inheritance

Disorders resulting from the combined effect of multiple genetic defects, often influenced by environmental factors, affecting more than 50% of the population.

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4

6.6 billion

How many base pairs are in a diploid cell?

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5

45,000

How many genes are in the human genome?

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6

20,000

How many protein coding genes are there?

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7

25,000

How many noncoding RNA genes are there?

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8

Single-copy sequence

Unique sequence of DNA that includes most genes and regulatory elements; less than 15% of the genome encodes proteins.

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9

Satellite DNA

Tandem repeats of relatively short (5-170 bp) sequences, clustered in specific regions of the genome (centromeres, heterochromatin), and comprising 10-15% of the genome.

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10

Dispersed repeats

Repetitive elements dispersed throughout the genome, including short- and long- interspersed nuclear elements (SINEs and LINEs), comprising approximately 30% of the genome, important for their role as transposons that can lead to mutations.

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11

16,600

How many base pairs in mitochondrial DNA?

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12

38

How many genes in mitochondrial DNA?

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13

14

How many protein coding genes in mitochondrial DNA?

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