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A gene is a heritable factor that consist of a length of DNA and that influences a specific characteristic.

A gene occupies a specific position on a


chromosome. The various specific forms of a gene are alleles. Alleles differ from each other by one or only a few bases. The entire base sequence of
human genes was sequences in the Human Genome Project.

Mutations: New alleles are formed by mutations. Mutations may result when nucleotide sequence in DNA of a chromosome is changed leading to an
alteration in the amino acid sequence in proteins formed in the cell. Consequence maybe a diff. phenotype. Radiation and mutagenic chemicals increase
the mutation rate and can cause genetic disease and cancer.
Prokaryote chromosome Eukaryote chromosome:
- Consists of a circular + naked DNA - Linear DNA molecule
- No proteins - Associated with histone proteins
- Plasmids often present - NO plasmids
- One chromosome only - Two or more diff. chromosomes

Diploid nuclei have pairs of homologous chromosomes


Haploid nuclei have one chromosome of each pair.
Karyogram: shows chromosomes of an organism in homologous pairs in descending order of size.
Sex chromosomes determine sex in humans:
Females XX
Males XY
Autosomes are chromosomes that do not determine sex.
A diploid nucleus divides by MEIOSIS to produce 4 haploid nuclei. DNA is replicated before meiosis so that all chromosomes consist of two chromatids.
In sexual reproduction, gametes are formed containing one copy of each gene.
Offspring formed from the zygote resulting from fertilization receive two copies of each gene, one from each parent.

Early stages of meiosis involves pairing of homologous chromosomes and crossing over followed by condensation. Orientation of homologous pairs are
random. 1st division of meiosis pairs of homologous chromosomes separate halving the chromosome number
Crossing over and random orientation promotes genetic variation. Fusion of gametes from different parents promotes genetic variation.
Mendel discovered the principles of inheritance with experiment in which large numbers of pea plants were crossed. Gametes are haploid, so contain
only one allele of each gene. The two alleles of gene separate into different haploid daughter nuclei during meiosis. Fusion of gametes results in diploid
zygotes with two alleles of each gene that may be the same allele or different alleles. Monohybrid cross inheritance of a contrasting characteristic that
is controlled by a gene is investigated.

Inheritance of blood groups: Involves both co-dominance and multiple alleles.


If dominant and recessive alleles are both present in a heterozygous individual only dominant allele has an effect on the phenotype.
Co- dominant alleles: Pairs of alleles that both affect the phenotype when present together in a heterozygote.
Multiple alleles: More than two alleles of a gene

Pattern of inheritance is different with sex-linked genes due to their location on sex chromosomes (XX female and XY male).
X is longer than Y and carries alleles for genes that are not present on the Y chromosome.
In males, recessive alleles on the single X chromosome cannot be masked
Rare recessive conditions of this type occur more frequently in males including red-green colour blindness. A carries has a recessive allele of a gene but
it does not affect the phenotype because a dominant allele is also present. Genetic disorders are heritable conditions that are caused by a specific defect
in a gene or genes. Many are due to recessive alleles of autosomal chromosomes.

Gene electrophoresis used to separate proteins or fragments of DNA according to size


PCR used to amplify small amount s of DNA
Genetic profiling Involves analysis of DNA to identify the individual from which the DNA was taken.
Genetic engineering transfer of genes from one species to another, possibly unrelated, organism
Genes are transferred by some DNA a vector (typically a plasmid ring of DNA from bacterium) is used. Gene are vector are cut by means of the
same restriction enzyme, forming compatible stick ends at the cuts. Gene and plasmid are then joined using ligase enzyme
Cloning:
- A group of genetically identical organisms are clones, occur naturally
- E.g. Clones are formed by asexual reproduction in plants.
- Widely used in commercial plant propagation.
Animal clones have been produced by nuclear transfer technique. Dolly the sheep was the first mammal to be cloned from non-embryonic cells.

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