genetic methods Flashcards

(37 cards)

1
Q

Hereditary

A

Passing of physical and mental characteristics form one generation to the next

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2
Q

Genotype

A

Underlying genetic makeup of a biological organism

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3
Q

Phenotype

A

Observable characteristics of biological organism defined as physical ones or behavioural ones

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4
Q

Dominant allele

A

Shown in phenotype despite only one copy being present

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5
Q

Recessive allele

A

Only shown when two copies are present in genotype

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6
Q

DNA

A

Self replicating material found in nearly all biological organisms, carries genetic info that is needed to form proteins

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7
Q

RNA

A

Messenger that carries info from DNA

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8
Q

Translation

A

Turning genetic info found in DNA into proteins

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9
Q

Chromatid

A

Long strands of DNA found in nucleus of active cells
Coil during mitosis to form a chromosome

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10
Q

Chromsome

A

Long DNA molecule with genetic info for an organism

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11
Q

Gene

A

Single strand of DNA

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12
Q

Genome

A

Collection of genes

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13
Q

Locus

A

Genetic address of specific genes

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14
Q

Allele

A

Different version of a gene, either dominant or recessive

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15
Q

Pleiotropic

A

Traits coded by single gene within genome

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16
Q

Polygenic

A

Complex traits coded by multiple genes within genome

17
Q

Who was Gregor Mendel?

A

-First geneticist
-Bread and cross bread peas
-Peas get one version of a trait from each parent

18
Q

What are the 2 fundamental laws of Mendelian inheritance?

A

-Segregation - traits are either dominant or recessive
-Independence - varieties of each trait sorted independently of each other

19
Q

What occurs during translation?

A

-Strands are unzipped and read by RNA to create proteins

20
Q

What are the 4 nucleotides?

A

-Adenine
-Thymine
-Guanine
-Cytosine

21
Q

How many chromosomes for humans have?

A

-46 chromsomes
-23 pairs
-Females = XX
-Males = XY

22
Q

How many genes does a human have?

A

-Around 20,000 to 25,000

23
Q

What are X linked conditions?

A

-Recessive traits in males are more expressed than females as they don’t have a dominant allele in their Y chromosome

24
Q

Describe colour blindness

A

-First reported case of human X linkage
-Tends to affect males more

25
Describe Turner Syndrome
-X is partially missing and so affects females -1/2,500
26
Describe Klinefelter Syndrome
-XXY and so affects males -1/6000
27
Describe fragile X syndrome
-Repeat of gene for FMR1 protein -Affects males and females
28
Describe Triple X syndrome
-3 X chromosomes -Affects females
29
Describe Jacobs syndrome
-XYY -Affects males
30
What is a sporadic mutation?
-Causes by error in cell division -Can happen naturally or be due to environmental factors such as radiation -Error in chromosomal numbers
31
Describe Downs syndrome
-Tends to be due to trisomy of chromosome 21 -1/1000
32
Describe Williams syndrome
-Due to microdeletion of chromosome 7 -1/18,000
33
What are polygenic traits?
-Coding from multiple genes -Sz = affects 20 million worldwide and typically genetically predisposed
34
Describe the use of twin studies
-Comparing monozygotic twins and dizygotic twins -Mz = identical -Dz = non identical
35
Describe the use of genomic studies
-Look into families -Huntingtons disease e.g. loss of motor control -Allows to identify genetic markers
36
What are targeted mutations?
-Lab produced genes that are inserted into chromosome can be 2 types -Defective = fail to produce functional protein -Produce new and different proteins
37
What is genetic engineering?
-Verge of genetic revolution -Technology that may allow us to directly edit our genome