UNIT 3.1 Flashcards

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1
Q

DNA

A

genetic blueprint which codes and determines the characteristics of an origin
Packed and organized into structures called chromosomes

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2
Q

Genes

A

A heritable factor that consists of a specific length of DNA and that encodes for a specific trait

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3
Q

Recessive Gene

A

Allele that is not expressed in the heterozygous genotype(minority)

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4
Q

Dominant Gene

A

Allele that is expressed in the heterozygous genotype (majority)

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5
Q

Genome

A

Consists of the entire genetic material of an organism

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6
Q

Chromosomes

A

Long DNA molecules which contain many genes
Eukaryotes stored in the nucleus
Prokaryotes circular found form

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7
Q

Diploid

A

A pair of each kind of chromosome

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8
Q

Haploid

A

One copy of each chromosome

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9
Q

Histone

A

a type of protein found in a chromosome

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10
Q

Locus

A

The position of a gene on a particular chromosome

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11
Q

Alleles

A

An alternative form of a gene that code for different variations of a specific trait (occupies the same locus as other alleles of the same gene)

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12
Q

Homozygous

A

two copies of the same allele

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13
Q

Heterozygous

A

two different alleles

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14
Q

Genome Vs. Proteome

Genome
Same Nucleus:
Non-coding sequences:
Human Genomes

Proteome

A

Genome: specific number for the total genetic information

INFO:
Chloroplast and mitochondria have their own nucleus
Includes non-coding DNA sequence: introns, promoters, short tandem repeats)

Human Genomes:
46 chromosomes
3 billion base pairs
21,000 genes

Proteome: specific number for the total proteins a species has

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15
Q

Human Genome Project (HGP)

Outcomes (4):

A

The Human Genome Project (HGP) was an international cooperative venture established to sequence the human genome
* The HGP showed that humans share the majority of their sequence, with short nucleotide polymorphisms contributing to diversity

Completion of the Human Genome Project in 2003

1) Mapping – The number, location, size and sequence of human genes is now established

2) Screening – This has allowed for the production of specific gene probes to detect sufferers and carriers of genetic diseases

3) Medicine – The discovery of new proteins has led to improved treatments (pharmacogenetics and rational drug design)

4) Ancestry – Comparisons with other genomes have provided insight into the origins, evolution and migratory patterns of man

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16
Q

Gene Comparison
Escherichia Coli (bacteria):
Gallus gallus (chicken):
Homo Sapiens:
Daphnia pulex (water flea):
Oryza sativa: (arroz)
*Check Good Notes for Diagram

A

Escherichia Coli (bacteria): 4200
Gallus gallus (chicken): 17,000
Homo Sapiens: 21,000
Daphnia pulex (water flea): 31,000
Oryza sativa: (arroz): 38,000

17
Q

Base pairings
Homo Sapiens:
T2 Phage:
Canopu Plant:
Escherichia Coli
Fruit Fly:

A

Homo Sapiens: 3.2
T2 Phage: 164,000
Canopu Plant: 150,000
Escherichia Coli: 4.6 billion
Fruit Fly: 130 billion

18
Q

Mutations

What is formed?
Beneficial:
Detrimental:
Neutral:

A

Gene mutation: A permanent change in the nucleotide sequence of a sanction of DNA coding for a specific trait

New alleles are formed by mutation
They can be beneficial, detrimental or neutral:

Beneficial mutation (missense): create new variations of a trait

Detrimental mutations (nonsense): abrogate the normal function of a trait

Neutral mutations (silent): no effect on the functioning of a feature

19
Q

Sickle Cell Anemia
*Check Good Notes for Diagram

A

Disease allele arose from a base substitution mutation: a single base was changed in the gene sequence

Produces abnormal red blood cells

20
Q

Sickle Cell Anemia: Causes
*Check Good Notes for Diagram

A

Results from a change to the 6th codon for the beta chain of haemoglobin

DNA: Template strand: CTC → CAC

mRNA : GAG → GUG in the 6th codon position

Polypeptide: The sixth amino acid for the beta chain of haemoglobin is changed from glutamic acid to valine (Glu → Val)

21
Q

Sickle Cell Anemia: Consequences (2)
*Check Good Notes for Diagram

A

Consequences of Sickle Cell Anaemia
- Amino acid from glutamic acid to valine (Glu → Val)
- Glutamic acid: polar
- Valine: non-polar → causes it to form insoluble fibrous strands
- Instead of normal globular haemoglobin → clumped fibrous haemoglobin

Formation of fibrous haemoglobin changes the shape of the red blood cell → sickle shape
* May form clots within the capillaries → blocks the blood supply to vital organs + causes myriad health issues
* Destroys more rapidly than normal cells → Low red blood cell count → anaemia → Constant fatigue

22
Q

Sickle Cell Anemia with Malaria

Carried by who:
People with this:
*Check Good Notes for Diagram

A

Parasitic disease caused by plasmodium cell
*Carried by the Anopheles mosquito and invades normal red blood cells causing them to lyse (disintegrate)

*People with sickle cell disease are resistant to sickle cell disease
*Sickle cell is more prevalent where malaria is endemic (local)