Question

Genotyping chip: screens for known and common pathogenic mutations or by nucleotide sequencing of the entire CFTR gene. It will compare genotype to wildtype reference genotype.

What are the advantages and disadvantages of using this genotyping chip to find CFTR mutations?
Disadvantages: false negative chip only caputres part of the mutation, thats not in selected range

Suggest and justify a second appropriate method that could have been used to identify Naomi’s CFTR genotype thats not using genotyping chip.

Answer 1

Cystic fibrosis is a disease which is caused due to the mutations or variations in the functioning of the gene encoding the CFTR (Cystic fibrosis transmembrane Regulator) protein.

There are multiple mutations which can cause the disease and in order to gain an insight about the nature and the types of mutations which can be caused, a newer advanced technique such as the use of the genotyping chip is very useful.

Following are the advantages of using the chip:

1) The study and analysis of multiple mutations can be carried out at one time with a focus on accuracy and precision.

2)The technique is more affordable and delivers fast paced results with efficacy while using it.

3)The chip can be synced with the computational analysis methods and the screening of the mutations with the subsequent rsults can be easily studies and understood virtually. The results obtained can be stored in a huge database and hence, there is no delay of losing out on important results.

One of the major disadvantage of using a genotyping chip is that it will study the mutatons occuring in one gene while it is not the case with the disease and the severity of the associated symptoms seen in many case wherein the genotype and the phenotype can vary. Sometimes a cluster of genes are responsible for the progression of the disease. In such cases, it is preferable to study other genes simultenously.

This can be achieved through the microarray usage wherein a group of genes can be studied and analysed at once hence, helping in proving to be as an alternative to using the genotyping chip. The microarray helps in identifying and understanding the expression levels of a wide variety of genes.