Beta thalassaemia is an autosomal recessive genetic disorder. This means an individual needs to inherit two copies of the altered gene (one from each parent) to have the condition, known as beta thalassaemia major.
A 'carrier' of the beta thalassaemia gene has one normal gene and one altered gene. They typically do not exhibit severe symptoms but can pass the altered gene to their children. If both parents are carriers, they each have the genotype $Aa$ (where $A$ is the normal allele and $a$ is the beta thalassaemia allele).
To determine the probability for each pregnancy, we can use a Punnett square:
| $A$ | $a$ | |
| $A$ | $AA$ | $Aa$ |
| $a$ | $Aa$ | $aa$ |
Therefore, in each pregnancy, there is a 25% chance that the child will inherit the beta thalassaemia major condition ($aa$).
Consider the following statements regarding non-invasive prenatal screening (NIPS) for screening high risk pregnancies for aneuploidies:
1. It is carried out on maternal blood.
2. It is done before 10 weeks gestation.
3. It has a negative predictive value of about 98%.
4. Invasive testing is needed for confirmation of a positive test.
Which of the statements given above are correct?
Which of the following are examples of genomic imprinting?
1. Angelman syndrome
2. Williams syndrome
3. Prader-Willi syndrome
4. DiGeorge syndrome
Select the correct answer using the code given below: