Genetics Genomics Flashcards

1
Q

What is the study of single genes, heredity, and variation of organisms called?

A

Genetics

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2
Q

What is the study of all the genes in our DNA and their functions called?

A

Genomics

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3
Q

In what year was the human genome sequenced?

A

2003

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4
Q

What does epigenetics help explain?

A

How different types of cells are formed from cells that contain the same genome

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5
Q

How does the epigenome of a developing baby get influenced?

A

By the expectant parent’s lifestyle while still in the womb

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6
Q

What is the genetic material found in all cells?

A

Deoxyribonucleic acid (DNA)

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7
Q

How many chromosomes do humans have?

A

46

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8
Q

What are specific sequences of DNA called?

A

Genes

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9
Q

What are the four bases of DNA?

A
  • Adenine (A) * Thymine (T) * Guanine (G) * Cytosine (C)
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10
Q

What is the process of transferring genetic information from DNA to RNA called?

A

Transcription

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11
Q

What is the process of reading mRNA to synthesize proteins called?

A

Translation

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12
Q

What are chromosomes made of?

A

DNA and proteins that form a structure called chromatin

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13
Q

What type of cells contain 2 copies of each chromosome?

A

Diploid cells

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14
Q

What are gametes, such as sperm and ovum, classified as?

A

Haploid

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15
Q

What is the final stage of the cell cycle where the cell divides called?

A

Cytokinesis

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16
Q

What are the four main phases of mitosis?

A
  • Prophase * Metaphase * Anaphase * Telophase
17
Q

What is the process called that produces gametes containing one chromosome from each pair?

A

Meiosis

18
Q

What occurs during prophase 1 of meiosis that generates variation?

A

Recombination

19
Q

What do mutations refer to?

A

Changes in the base sequence of DNA due to mistakes during copying

20
Q

What are the two types of alleles inherited in genetics?

A
  • Heterozygous * Homozygous
21
Q

What is the observable characteristics determined by an individual’s genotype called?

A

Phenotype

22
Q

What are single gene disorders caused by?

A

A mutation of a single gene

23
Q

What is the term for having an abnormal number of chromosomes?

A

Aneuploidy

24
Q

What is Down’s syndrome also known as?

A

Trisomy 21

25
Q

What does preimplantation genetic diagnosis (PGD) allow?

A

Diagnosis of genetic and chromosomal disorders in an embryo before transfer

26
Q

What is the process by which maternal and paternal DNA are exchanged during meiosis called?

A

Recombination

27
Q

Fill in the blank: Genes are inherited in pairs, but there are different types of each gene called _______.

A

alleles

28
Q

True or False: Each gamete produced during meiosis is genetically identical.

A

False

29
Q

What is the initial assessment performed on a newborn called?

A

Newborn and Infant Physical Examination (NIPE)

30
Q

What is the screening program that tests for metabolic and genetic disorders in newborns?

A

Newborn Blood Spot (NBS) screening program