MRCP UK EXAMINATIONS

Detailed explanation-1: -A person can be a CF carrier even though CF disease has not occurred in the family for many generations. This is because a person who is a CF carrier must have a child with someone else who is also a CF carrier and both of them have to pass the abnormal gene to the child.

Detailed explanation-2: -Genes don’t “skip a generation”: that’s not how genes work. You may mean traits that skip a generation. However, “skipping a generation” is still an inaccurate colloquialism: no trait “skips a generation”. Recessive traits may be unlikely to be expressed in all or most children of a given individual.

Detailed explanation-3: -Yes. In fact, most couples who have a child with CF have no family history of cystic fibrosis and are surprised to learn that they carry a mutation in the CFTR gene, which causes the condition. Genes are the basic hereditary units determining an individual’s traits, such as hair and eye color.

Detailed explanation-4: -Diagnostic testing for cystic fibrosis Our next-generation sequencing (NGS) assays provide visibility into the cystic fibrosis transmembrane conductance regulator (CFTR) gene for molecular diagnostic testing of cystic fibrosis.