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64 Cards in this Set

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Who was the father of Genetics

Mendel

Who coined the term "genetics"

Bateson

What character?

A heritable feacture

What did mendel work with? And what was he observing?

Pea plants:


He observed the:


Shape of the seed


Seed colour


Pod shape


Pod colour


Flower colour

What is a character?

It is a heritable feacture of a individual such as eye colour

What is a trait

This is a variant form of a character (phenotype)

What is a monhybrid cross

This is a cross between two true breeding indiciduals in only one character.

What is a monohybrid cross

This is a cross between two true breeding individuals for a certain single characteristic

What are true breeds also known as?

The p generation

What is the f2 generation, why is it significant

They are the offspring of the p generation. And show a 3:1 characteristic ratio. One will be homozygous for dominant, one for homozygous ressesive and two heterozygous

What is mendles law of segregation

Each parent has two alleles and only one is passed on to a individual offspring.

"Alleles are assorted independenly of each other" what is this the definition for??

Independent assortment

When does independet assortment occure?

During metaphase 1

How do recombinant phenotypes occure? And what are they?

Recombinant phenotypes is when a individual possesses a combination of a phenotypes which is different from that of the parent.


It occures through indpendent assortment or crossing over

What is the process of genetic reconstruction which gives rise to new combinations of linked genes that occures during p-phase of prophase 1.

Crossing over

What is the % of the progeny that differs from either parent called?

Recombinant frequency

What is incomplete dominance

This is when a dominant allele does not completely mask the effects of rhe recessive allele on the same locus

What is once-dominace and give an example?

This is where each allele affects the phenotype in separate distinguishing ways.


For example the abo blood group system .

What is the difference between incomplete dominance and co-dominance

In incomplete the alleles blend together to creat a different trait. In co dominant they appear together and remain a distinct heterozygous

What is pleiotropy? Give an example

This is when a single gene has multiple affects on the phenotype.


Eg cystic fibrosis or sickle cell anaemia

What is polygenic inheritance, give exmapl

When one single trait is derived from multiple genes. Such as height, skin colour

What is epistasis

This is when one gene maskes or modifies the expression of another

What does it mean if a organism is a polyploidy

It means it has 3 chromosomes at each group.

What does aneuploidy mean?

This means that there is an addition or missing chromosomes in a individuals karyotype

What does non-disjunction give rise too? Explain both meiosis i and meiosis ii

If it occures in meiosis i it gives rise too 2 trisomy and 2 monosomy


If it occures in meiosis ii half will be normal the one will be trisonmy ans 1 monosomy

What is trisomy21

Down syndrome

What does an individual with only one female sex chromosome have?

Turners syndrome

How does 'x x y' effect an individual

They will have klinedellers syndrome

What is cri-du-chat syndrome and exakple of

Deletion.


In this it is caused by deletion of part of the small arm on chromosome 5

Prader willi syndrome is and exalple of invertion true or fasle

False its deletion

What is the process which affects certain genes when the maternal or parternal copy of the gene is sliced

Genomic imprinting

What is translocation, give example of problem

This pccures when genes swap over chromosomes.


An exakple would be chronic myelocytic leukamia. It is not herited but occures spontaneously in adults

How was nucleric acid discovered

Discovered by friedrich miescher, using puss from bandages he gained white blood cells which gained the nuclei and a substance rich in phosphorus and nitrogen

What is nucleric acid made from

A five carbon sugar,


Nitrogenous base


And phosphate

What are dna and rna a type of

Nucleric acid

What did Griffiths study involve

He worked with two strands of streptococus pneumonia one without a nucleric memebrane (r) one with (s).


He injected into mice. S killed r did not


He heated s, then injected it. S did not kill


He mixed r and heated s.... mice died


He concluded that the material to kill was spread between them

He worked with s stands and r stands

What did oswald avery experiment on, what did he find

He looked at the transforming principle.


Found, that it was dna as it had the same molecular weight, and it was not a protein, lipid, or rna, or a carbohydrate

What did Hershey and chase do

In their experiment they used phages to demonstrate that dna was the genetic material. By staining the cloat, then the dna

How are dna nucleotides bonded together

Hydrogen bonds

What are nucleotides made from

Pentose sugar phosphate and base

What are bases divided into

Purines and pyrimidines

What bases pair together

Adenine thymine


Guanine cytosine

What are adenine and guanine examples of

Purines

What are the pyrimidines

Thymine and cytosine

What are the diameters of dna

It is 2nm wide


Each turn is 3.4nm


Distance between nucleotides is 0.34

What are the diameters of dna

It is 2nm wide


Each turn is 3.4nm


Distance between nucleotides is 0.34

Do bases have specific pairs with certain number of bonds... elaborate

A-t has two


G-c has 3

What did watson and crick suggest

That dna can act as a template fkr synthesis of a new complementary stand

What does dna polymerase do

It syntheisies dna in the 5 prime 3 prime direction as it does it inserts complementary bases, gaining enery for breaking phosphate bonds


What does helicase do

Unwinds the helix

How is the dna helix held open

Single stand binding proteins.

What did archibold garrod do

He studied alkaptonuria, (urine darkend after exposer to air)


He notoced it was inherited in mendelian fashion.

Where does translation occur

In the ribosomes

How does rna differ from dna

Rna has a ribose sugar, istead of a deoxyribose. It also has uracil as a nitrogous base instead of thymine

What is translation

This is the synthesis of a polypeptide using mrna

What is transcription

This is where mrna is produces.


Rna polumerase binds to a site called the promoter.

What a single gene disorders caused by

Cause by point mutations in singke genes.

Describe sickle cell anaemia

Causes anaemia, joint pain, swollen spleen and frequent severe infections.


Can be treated with blood transfusion, and cured with bone marrow transplant.


It is an example of an autosomal recessive. It has pleiotropic effects, meaning it effects many aspects of a phenotypes.

List some pleiotrophic effects of sickle cell anaemia

Weakness, anema, heart failure, pain, fever, brain damage, damage to organs spleen damage, paralysis, kidney faliure

What is unusual about sickel cell carriers

They have a phenotype called sockle cell trait where under low oxygen conditions. And some sickling will occure.

What is heterozygote advantage

This is when heterozygotes are fittter and manage to pass on there genes, when homozygote dont. For example sickle cell and malaria

What causes cystic fibrosis?

A mutation which causes cftr being unable to fold correctly, and not able to get to the creat location, preventing water and ion movement.

How is cystic fibrosis treated

Antibiotics

Why are autosomal dominant conditions so bad

If an affected has it 50% of its offspring will also have it.