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?

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?

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
What does preimplantation genetic diagnosis (PGD) allow?
Diagnosis of genetic and chromosomal disorders in an embryo before transfer
26
What is the process by which maternal and paternal DNA are exchanged during meiosis called?
Recombination
27
Fill in the blank: Genes are inherited in pairs, but there are different types of each gene called _______.
alleles
28
True or False: Each gamete produced during meiosis is genetically identical.
False
29
What is the initial assessment performed on a newborn called?
Newborn and Infant Physical Examination (NIPE)
30
What is the screening program that tests for metabolic and genetic disorders in newborns?
Newborn Blood Spot (NBS) screening program