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44 Cards in this Set

  • Front
  • Back

Concept of Blending Inheritance

Parents of contrasting appearance produce offspring of intermediate appearance.

Particulate theory of Inheritance

Inheritance involves reshuffling of genes from generation to generation.

Why use the garden pea (5)

1. Easy to cultivate


2. Short generation


3. Normally self-pollinating, can be crossed by hand


4. True-breeding varieties available


5. Simple, objective traits

Homozygous

True-breeding

Monohybrid Cross

Varieties differing in only one trait

Law of Segregation

1. Each individual has a pair of factors for each trait.


2. The alleles separate during gamete formation.


3. Gametes contain one factor.


4. Fertilisation give offspring two factors.

Gene locus

Location of allele on chromosome.

Heterozygous

Different Alleles

Genotype

Two alleles an individual has fo one trait.

Phenotype

Physical appearance

Allele

Gene for specific trait

Homologous

Pair of chromosomes with same trait at same locus.

Law of Independant Assortment

Pair of factors for one trait separate independantly of factors for other traits


All possible combinations can occur.

Dihybrid Cross

True-breeding plant differing in one trait

Mendel tracked a trait...

Start with true-breeding differing in two traits.\F1 shows both dominant characteristics.


F1 self-pollinates.


Observe.

Testcross

Determines genotype of individual with dominant phenotype.

Genetic Disorders

Medical conditions caused by alleles inherited from parents.

Autosome

Any chromosome other than sex chromosomes X & Y

Autosomal Dominant

Aa yes


AA yes


aa no

Autosomal Recessive

AA no


Aa no


aa yes

Methemoglobinema

AUTOSOMAL RECESSIVE


Chromosome 22


Accumulates methemoglobin in blood, hands look blue

Cystic Fibrosis

AUTOSOMAL RECESSIVE


Chromosome 7


Mucus in bronchial tubes and pancreatic ducts. Affected Ca+ channels

Phenylketonuria

AUTOSOMAL RECESSIVE


Affects nervous system development


Lacks enzyme for normal metabolism of phenylalanine - diet low in that enzyme.

Phenylketonuria diet low in

Milk


Dairy


Fish


Eggs


Chicken


Eggs


Beans


Nuts

Osteogenesis Imperfecta

AUTOSOMAL DOMINANT


Weak, brittle bones


Mutation in genes required for synthesis of type 1 collagen

Huntington Disease

AUTOSOMAL DOMINANT


Chromosome 4


Mutated gene coding for protein huntingtin


Progressive degeneration of brain cells causing large clumps inside neurons


Problems appear in middle age normally

Hereditary Spherocytosis

AUTOSOMAL DOMINANT


Minowski-Chauffard Syndrome


Chromosome 8, ankyrin-1 gene


Red blood cells spherical, fragile, burst

Co-dominance

More than one allele is fully expressed, eg ABO blood groups.

Incomplete Dominance

Heterozygote has phenotype intermediate between that of either homozygote. Eg red, white, pink flowers.

Familial Hypercholesterolemia

INCOMPLETE DOMINANCE


Homozygotes develop fatty deposits in skin & tendons; childhood heart attacks.


Heterozygotes may get heart attacks in early adulthood.

Incomplete Penetrance

The dominant allele may not always lead to the dominant phenotype in a heterozygote. Exhibit varying degrees of penetrance.

Polydactyly

INCOMPLETE PENETRANCE


Extra digits on hands or feet or both. Not all individuals who inherit the dominant polydactyly will exhibit the trait.

Pleiotropy

A single mutant gene affects two or more distinct and seemingly unrelated traits.

Marfan Syndrome

PLEIOTROPY


Chromosome 15


Abnormal connective tissue (disproportionate hands, legs, feet etc., weak aorta, poor eyesight.

Pleiotropy Examples

Porphyria


Sickle Cell Aneamia

Polygenic Inheritance

A trait is governed by two or more genes having different alleles. Additive effects.

Polygenic Inheritance examples

Skin colour, height, hair colour

X-linked Inheritance

Nothing to do with gender.


X chromosome carries genes. Y chromosome ONLY codes for being male.

X linked Inheritance Discoveries

Colubia University in 1900s, headed by Thomas Hunt Morgan on fruit flies (easy, inexpensive, similar sex chromosome pattern as humans)

Colour Blindness

X LINKED RECESSIVE


Allele for blue-sensitive is autosomal.


Green and red-sensitive cells are X linked.

Menkes Syndrome

X LINKED RECESSIVE


Defective allele on X.


Disrupts movement of Cu in and out of cell.


Kinky hair, poor muscle tone, siezures, low body temp.

Muscular Dystrophy

X LINKED RECESSIVE


Wasting away of muscle.


Caused by absence of protein dystrophin.

Adrenoleukodystrophy

X LINKED RECESSIVE


Failure of carrier protein to move an enzyme or long fatty acid into peroxisomes.

Haemophilia

X LINKED RECESSIVE


Absence or minimal clotting factor VIII or IX.


Affected person's blood doesn't clot or clots slowly.