Professional Documents
Culture Documents
1. Advantages
2. Disadvantage
a. Can stigmatise and emotionally traumatize those who learn that they are carriers of genetic
defects
c. Has the potential of being used to dictate who may or may not reproduce
State that the Human Genome project is an international cooperative venture to sequence
the complete human genome
· Production of gene probes to detect sufferers and carriers of genetic diseases
Define clone
A group of organisms of identical genotype / a group of cells descended from a single parent cell
Outline a technique used in the cloning of farm animals
Early division of a fertilised egg produces 8 cells each of which would give rise to an embryo
(totipotency).
After in vitro fertilisation processes the 8 resultant seprated embryos can be transferred to
surrogate mothers (e.g cattle or sheep) to continue using selected prime animals for the
production of gametes
State that chromosone structure and banding can be used to arrange the chromosomes in
their pairs
Karyotyping can be used not only to diagnose aneuploidy, which is responsible for Down,
Turner's, and Klinefelter's syndromes, but also to identify the chromosomal aberrations
associated with solid tumours such as Wilms' tumour, meningioma, neuroblastoma,
retinoblastoma, renal-cell carcinoma, small-cell lung cancer, and certain leukemias and
lymphomas.
Define Gene
An heritable factor that controls a specific characteristic, consiting of a length of DNA occupying
a position on a chromosone known as a locus.
Define allele
One specific form of a gene, differing from other alleles by one or a few bases only and
occupying the same gene locus as other alleles of the gene
Define genome
Gene Mutation
Meiosis
State that meiosis is a reduction division in terms of diploid and haploid numbers of
chromosomes
Outline the process of meiosis including pairing of chromosomes followed by two divisions
which result in four haploid cells
In meiosis, the number of chromosomes is halved, the daughter cells receiving only one of each
type of chromosome instead of two. It occurs in the formation of gametes (sex cells). In the
diploid parent cell, chromosomes occur in homologous pairs (the same size). The parent splits in
two (1stmeiotic division), and the homologous chromosomes of each pair line up together and
then get separated from one another and go into different cells. The products then divide again
(2ndmeiotic division, and the chromatids are separated and a total of 4 daughter cells result
Explain how the movement of chromosomes during meiosis can give rise to genetic variety
in the resulting haploid cells
Chromosones are inherited as a group; that is, during cell division they act and move as a unit
rather than independently. The existence of linkage groups is the reason some traits do not
comply with Mendel's law of independent assortment (recombination of genes and the traits they
control); i.e., the principle applies only if genes are located on different chromosomes. Variation
in the gene composition of a chromosome can occur when a chromosome breaks, and the
sections join with the partner chromosome if it has broken in the same places. This exchange of
genes between chromosomes, called crossing over, usually occurs during meiosis, when the total
number of chromosomes is halved.
Congenital disorder caused by an extra chromosome on the chromosome 21 pair, thus giving the
person a total of 47 chromosomes rather than the normal 46. Persons born with Down syndrome
are characterized by several of the following: broad, flat face; short neck; up-slanted eyes,
sometimes with an inner epicanthal fold; low-set ears; small nose and enlarged tongue and lips;
sloping underchin; poor muscle tone; mental retardation; heart or kidney malformations or both;
and abnormal dermal ridge patterns on fingers, palms, and soles. The mental retardation seen in
persons with Down syndrome is usually moderate, though in some it may be mild or severe.
Congenital heart disease is found in about 40 percent of people with Down syndrome.
Most persons with Down syndrome have an extra (third) chromosome--a condition known as
trisomy--associated with the chromosome 21 pair. Almost all individuals with Down syndrome
have this trisomy, but a small number (perhaps 4 percent) have an abnormality called
translocation, in which the extra chromosome in the 21 pair breaks off and attaches itself to
another chromosome. The cause of the chromosomal abnormalities in Down syndrome remains
unknown.
The characteristics of an organism are determined by internal factors that occur in pairs. Only
one of a pair of such factors can be represented in a single gamete.
Meiosis is the process that separates allele pairs to create the gametes (sex cells; sperm, egg) that
later fuse together during fertilisation.
Theoretical Genetics
Define:
Genotype
Phenotype
Dominant allele
An allele which has the same effect on the phenotype whether it is present in the homozygous or
heterozygous state
Recessive allele
An allele which only has an effect on the phenotype when present in homozygous state
Codominant alleelle
Allelees which have a partial effect on the phenotype when present in heterozygotes but a greater
effect in homozygotes
Locus
Homozygous
Heterozygous
Carrier
An individual that has a recessive allele of a gene that does not have an effect on the phenotype
Test Cross
Punnet Grid
Pedigree Chart
homozygotes.
I produces A antigens
I produces B antigens
I produces no antigens
There are 2 such alleles present in each person and therefore 6 combinations,
which are:
II=A
I I = B patterns.
Outline how the sex chromosomes determine gender by referring to the inheritance of x
and y chromosomes of humans
Xy = male
Xx = female
State that some genes are present on the x chromosome and absent from the shorter y
chromosome
Colour Blindness
Haemophilia
State that a human female can be heterozygous or homozygous, with respect to sex-linked
genes
Explain that female carriers are heterozygous for x-linked alleles
Calculate and predict the genotypic and phenotypic ratios of offspring of monohybrid
crosses involving any of the above patterns of inheritance