Chromosomal Abnormalities & Analysis Flashcards
What is a karyotype?
Picture of the full set of stained metaphase chromosomes of an individual, organised by chromosome number
Describe the features of chromosome painting
- Automated, using a computer
- Each chromosome is visualised using a different coloured fluorescent probe
Describe the process of fluorescent in situ hybridisation (FISH)
- Investigation of DNA sequence of chromosomes INSIDE cells
- Hybridisation of a fluorescent labelled probe
- Can detect DNA sequences at specific locations on chromosomes e.g. telomeres (ends) and centromeres
When are chromosomes harvested for analysis?
During METAPHASE
What is a metacentric chromosome?
Chromosome where the p and q arms are the same length
What are the main chromosome morphologies?
- Metacentric (p and q arms are the same length)
- Submetacentric (p arm is smaller than q arm)
- Acrocentric (very small p arm)
Which groups of chromosomes are acrocentric?
D and G
How are chromosomes G stained?
- Metaphase chromosomes exposed to trypsin which digests proteins
- Stained with ROMANOWSKI type dye
- BANDING PATTERN where AT rich areas stain DARK and CG apricot areas stain LIGHT
Why do chromosomes demonstrate a banding pattern?
- A-T rich areas stain DARK
- C-G rich areas stain LIGHT
Which areas of the chromosomes are gene rich?
LIGHT staining C-G
What is C banding?
Staining of HETEROCHROMATIN at centromeres and 1, 9, 16 Yq chromosomes
What is the karyotype for a normal female?
46,XX
What are the benefits of analysing chromosomes?
- Accurate diagnosis and prognosis of clinical problems
- Better clinical management (e.g. Hormonal treatment)
- Assess future reproductive risks
- Pre-natal diagnosis
Why might someone be referred for chromosomal analysis?
- Abnormal sexual development
- Prenatal diagnosis
- Birth defects
- Acquired abnormalities e.g. Acute or chronic diseases
Name 2 methods than can be used for extracting foetal DNA for pre natal diagnosis
- Amniocentesis
- Chorionic villus biopsy
Why might someone want a pre-natal diagnosis?
- Test for presence of birth defects e.g. DOWNS SYNDROME
- Family history of chromosomal abnormalities
What is aneuploidy?
LOSS OR GAIN OF WHOLE CHROMOSOMES
How does aneuploidy occur?
Errors at cell division in meiosis
What is Down’s syndrome an example of? (Hint: +21)
TRISOMY
Define trisomy and give an example
- Type of aneuploidy where there are 3 copies of a particular chromosome instead of 2
- DOWNS SYNDROME has an extra chromosome 21
What is monosomy? Give an example of a disease in which this occurs
- Only have one copy of a chromosome from a chromosome pair
- e.g. TURNERS SYNDROME where there is only one X chromosome (only affects girls)
What is polyploidy?
GAIN OF A WHOLE HAPLOID SET OF CHROMOSOMES
What are the possible karyotypes of a triploidy?
- 69 XXX
- 69 XXY
- 69 XYY