T4 Chromosomes, mutation and Meiosis

Chromosomes, Genes, Alleles and Mutations

Chromosome: In eukaryotes a sequence of DNA associated

with protein. In prokaryotes the protein is absent, so no chromosomes form.

Chromosomes, Genes, Alleles and Mutations

Gene: A sequence of DNA on a chromosome that codes for a

particular characteristic and can be inherited.

Chromosomes, Genes, Alleles and Mutations

Allele: Different forms of a

gene controlling the same characteristic. Alleles are found at the same location on a chromosome and have almost the same base sequence as eachother. E.g. the alleles for blue eyes and green eye pigment. The position of a gene on a homologous chromosome is its locus

Chromosomes, Genes, Alleles and Mutations

Genome: All the DNA in an organism or cell Karyotyping: A way of organising the genome so that pairs of

chromosomes are lined up in order of size. 22 of the 23 pairs are homologous = the chromosomes within a pair are the same length. 1 pair is non-homologous = the chromosomes within the pair are not the same length. This pair carries gender specific information: sex chromosomes.

Chromosomes, Genes, Alleles and Mutations

Chromosome mutation: a change in the number of genes,

e.g. Downs syndrome results from an extra no. 21 chromosome. This gives body cells with a total number of 47 chromosomes. Occurs due to non-disjunction and is also known as trisomy 21 Diagnosis: amniocentesis or chorionic villus sampling (placenta tissue)

Chromosomes, Genes, Alleles and Mutations

Gene Mutation: A change in the base sequence of a gene. There are many types of mutation. One involves substituting

one base for another. Base substitution in sickle Cell Anemia:

Red blood cells need the amino acid glutamic acid. This has the

triplet base code GAG. In sufferers of sickle cell anemia, the base sequence of the gene instead codes as GTG, which is the triplet base code for valine. The base substitution of T instead of A causes an incorrect amino acid to be translated into the protein. This leads to malformation of red blood cells and as a result sufferers develop the symptoms of sickle cell anemia.

Sickle Cell: Base Substitution can be an advantage.

Sickle cell and Malaria: The mutation of red blood cells in sickle cell has a protective effect

against malaria. This has helped the mutation survive in the population because in some areas it becomes an advantage to have sickle cell. This explains why the mutation is prevalent in people originally from those countries where malaria is widespread.

Meiosis
Meiosis starts with 46 chromosomes in one parent

cell and ends with 4 daughter cells each containong 23 chromosomes.

This is called a reduction division.

The number of chromosomes in the parent cell is

the diploid number (2n).

The number of chromosomes in the daughter

cells is the haploid number (n).

Meiosis: 2 divisions

In all cells both mitosis and meiosis start at the end of

interphase. In both processes during interphase chromosomes replicate. and join at the centromere, condensing to become sister chromatids.

Replicated chromosomes associate with each-other

Lining up - a major difference between mitosis and meiosis

IMPORTANT: In mitosis: homologous parental chromosomes stay

apart in metaphase.

In the first part of meiosis: homologous parental

chromosomes associate together in metaphase.

Meiosis I: The first division

Prophase I: sister chromatids form and the spindle starts to extend

across the cell.

Chromatids of homologous chromosomes associate together

and form a bivalent.

Metaphase I: Bivalents line up on the equator of the cell - the

metaphase plate.

Anaphase I: Bivalents separate and are pulled to opposite ends

of the cell by spindle fibres.

Remember: sister chromatids are still joined at the centromere Telophase I and cytokinesis: Nuclear envelope reforms, cytoplasm

divides and 2 cells are formed.

The cell enters a very short interphase before the second division.

Meiosis II: the second division

Prophase II: Nuclear membrane breaks down and spindle

forms.

Metaphase II: Sister chromatids line up on the metaphase

plate (equator).

Anaphase II: Sister chromatids separate at the centromere

and move to opposite poles of the cell and are called chromosomes again.

Telophase II and cytokinesis: nuclear membrane reforms and

cytoplasm divides to form in total 4 daughter cells. Each daughter cell has an original or copy of one of a homologous pair of chromosomes. haploid.

Therefore in each cell there will be 23 single chromosomes =