1 EXAMEN 2 TRIMESTRE BIOLOGIA:

1.Mutations:

Alterations in genetic material are called mutations. Only those that modify some
characteristics are predictable

-Mutations can be classified according to the effect produced on the individual, on the type of
cell they affect or according to the size of the mutation

 According the effect on the individual:

Harmful, beneficial or neutral

 According the type if cells affected:

o -Germinal. They are those that affect the germ cells that originate the sex cells.
These mutations are passed on to the offspring.

o Somatic. They are the mutations that affect somatic cells; When these cells multiply,
all descendant cells carry the mutation. These mutations are not passed on to the
offspring.

o According the size of the mutation

o Gene mutations. They cause changes in the nucleotide sequence of a given gene.

o Chromosomal mutations. They are those that are produced by changes in the structure
of the chromosome due to breaks, exchanges of fragments between two
chromosomes, etc.

o Genomic mutations. They are those that originate during meiosis and have as a
consequence an alteration in the chromosomal endowment. They can be of several
types:

Aneuploidies, in which there can be extra or less chromosomes

Euploidies: the sets of chromosomes change, they can be 3n 4n etc

-Evolutions because of genetics

Mutations, along with sexual reproduction (genetic recombination produced in meiosis) are a
source of genetic variability. This genetic variability, together with the natural selection of
organisms, are the main engines of evolution

2.Mendelian Genetics:

-Fundamental Concepts:

GENE: DNA fragment that contains information for a character (trait)

GENOTYPE: set of genes of an individual

PHENOTYPE: external manifestation or observable characteristics

ALLELE: each of the variants of the same gene for a trait

HOMOZYGOTE (pure breed): individual with the same alleles for a trait.

HETEROZYGOTE (hybrid): individual with different alleles for a trait.

-1st Mendel´s law: If you cross 2 pure breeds with only a trait in which they differ, the F1 are all
identical to the dominant one. Example AA X aa-> Aa but A is dominant

-2nd Mendel´s law: Two heterozygous separate without mixing together when the gametes are
formed. Example: Aa X Aa-> 4 individuals: AA, Aa, Aa, aa.

-3rd Mendel´s law: Different traits are transferred independently from one another; this means
all different possible combinations can appear.

-Genetic special cases:

1. Intermediate inheritance: when the phenotype of the heterozygotes is intermediate

between the phenotypes of the two homozygotes.

Example: Red plant X Yellow plant -> Orange plant

2.Coodominance: the phenotype of heterozygotes manifests the phenotypes of both

purebreds. Example: Pink plant X White plant-> The plant has a mixture of both.

3. Multiple allelism: When there are more than two different alleles at a locus, we speak of
the existence of an allelic series or multiple allelism. Example:

Blood types-> System AB0->IA=IB>i(0), System Rh-> D(+)>d(-)

4. Lethal Genes: Lethal genes cause the death of the

individual and modify the usual phenotypic and
genotypic proportions in the offspring according to
Mendel's laws, since the phenotypes corresponding to
the lethal genotype will not appear in it

5.
Quantitative
inheritance:
Sometimes, for a character, there are numerous
phenotypes that vary minimally from one another:
height, skin colour, hair colour, etc. In quantitative
inheritance several allelic pairs intervene whose
effects are additive. The final effect will be the sum of
the individual effects.

5. Linked genes: maintains that genes are located on

chromosomes. Each gene occupies a specific place on the
chromosomes (locus), and the two alleles they determine
are located on the homologous chromosomes. Mendel's
Third Law shows that the different hereditary characters are transmitted independently of
each other. However, many characters do it together because they are on the same
chromosomes:

6. Sex linked genes: The traits linked to sex are those

determined by genes located in the sex chromosomes.
In humans and other mammals, biological sex is
determined by a pair of sex chromosomes: XY in males
and XX in females. Genes on the X chromosome are said
to be X-linked. X-linked genes have distinctive
inheritance patterns because they are present in
different numbers in females (XX) and males (XY). X-
linked human genetic disorders are much more common
in males than in females

7.Geneological trees:
They allow us to know the
transmission a particular
characteristic through
generations. They allow to analyse hereditary illnesses. They
are very useful to predict if the offspring is at risk of suffering a
particular illness or inheriting a particular characteristic.