Term Definition

Plasmid Small circle of DNA that can transfer genes to or from a prokaryote

Homologous Two chromosomes with the same set of genes, in the same sequence,
chromosomes sometimes with different alleles

Karyotype The number and type of chromosomes in a cell

Karyotyping The process of arranging chromosomes in pairs according to their structure

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate

properly during cell division.

Outline a basic technique for gene transfer involving plasmids

- Plasmid is a small piece of circular DNA
- Plasmid removed from host cell
- Cleaved with restriction enzymes
- DNA fragments from another organism cleaved by same restrictive enzyme
- Can be inserted by plasmid
- Spliced together by DNA ligase
- Inserted into host cells
- Inserted into E. coli to clone the gene

Compare the DNA found in prokaryotic cells and eukaryotic cells

Prokaryotic Cells Eukaryotic Cells

Circular Linear

In nucleloid region Enclosed in nucleus

Naked Associated with histones

Plasmid No plasmid

Both consist of a double helix of nucleotides

Distinguish between autosomal and sex chromosomes in humans

X and Y chromosomes determine sex
Females are XX and Males are XY
X chromosome is larger than the Y chromosome
22 types of autosomes
Males and female have same types of autosomes

How are chromosomes arranged in a karyotype

- According to size, band pattern and location of centromeres

Sampling (Obtaining fetal cells)

- Amniocentesis (Amniotic sac)
- Chorionic villus sampling (Placenta)
Outline how to display a human karyotype
- Cells are grown until many of them are actively dividing
- Cells are arrested in metaphase
- Cells are burst and stained to reveal the banding
- A photograph is taken of stained chromosomes

Explain the use of karyotyping in human genetics

- Karyotype is the number and type of chromosomes in a cell
- Cells collected by amniocentesis
- Requires cells in metaphase
- Bursts cells and spread chromosomes
- Chromosomes are arranged in pairs
- According to size/structure/position of centromere/banding pattern

- Karyotypes used to identify sex

- Male is XY and female is XX
- Used to identify chromosome mutations/non disjunction
- Down syndrome due to extra chromosome 21
- Used for pre-natal diagnosis of chromosome abnormalities
- May lead to decision to abort the fetus
- Prepare for consequences of abnormality in offspring

Explain how an error in meiosis can lead to Down syndrome

- Non disjunction
- Chromosomes do not separate
- Non separation of homologous chromosomes during anaphase I
- Due to incorrect spindle attachment
- Non separation of chromatids during anaphase II
- Due to centromeres not dividing
- Occurs during gamete formation
- Less common in sperm than egg formation
- Down syndrome due to extra chromosome 21
- Gamete receives two chromosomes of same type
- Offspring with three chromosomes of same type