You are examining a 7-year-old female who suffers from recurrent vasculo-occlusive episodes. Her parents report that she complains often of severe bone pain. You suspect the patient is suffering from sickle cell anemia. Which of the following tests would be appropriate to the confirmation of this diagnosis?

Question

Quizplus · Accepted Answer

Sickle cell anemia results (at the level of the gene) from a single nucleotide change (A to T) at codon 6 within the β-globin gene. This alteration leads to a glu (G) to val (V) amino acid substitution, while at the same time abolishing a MstII restriction site. As a result a β-globin gene probe can be used to detect the different MstII restriction fragments. It should be recalled that there are 2 copies of each gene in all human cells; therefore, RFLP analysis detects both copies: the affected allele and the unaffected allele.

You Are Examining a 7-Year-Old Female Who Suffers from Recurrent