Using Sanger Sequencing to Diagnose a Patient with BMD

Kenneth Winterfeldt

Abstract

Deletions in the gene that codes for the protein Dystrophin can cause muscular dystrophy. Symptoms of muscular dystrophy include muscle weakness and progressive muscle degeneration. The number of base pairs that are deleted and the location of the deletion can affect the severity of symptoms. This information can help predict the expected symptoms of the affected individual. The goal of this research was to determine the location of the ends of a specific deletion for a patient at Self Regional Healthcare. A method of determining the size and location of a genomic deletion is to sequence the DNA around the deletion and compare this to the wild-type or a normal sequence. Sequencing will reveal exactly which base pairs are deleted. The genomic location of the ends were 31845773-31915152, which means that the deletion was 69,379bp in size. The deletion was in frame. This means that an altered version of dystrophin can be produced which means that the patient can expect less severe symptoms than others that are affected. This information can help doctors determine possible treatments and assist physicians in predicting the severity of symptoms for this patient.

 
Mar 30th, 9:15 AM

Using Sanger Sequencing to Diagnose a Patient with BMD

Founders Hall 114 A

Deletions in the gene that codes for the protein Dystrophin can cause muscular dystrophy. Symptoms of muscular dystrophy include muscle weakness and progressive muscle degeneration. The number of base pairs that are deleted and the location of the deletion can affect the severity of symptoms. This information can help predict the expected symptoms of the affected individual. The goal of this research was to determine the location of the ends of a specific deletion for a patient at Self Regional Healthcare. A method of determining the size and location of a genomic deletion is to sequence the DNA around the deletion and compare this to the wild-type or a normal sequence. Sequencing will reveal exactly which base pairs are deleted. The genomic location of the ends were 31845773-31915152, which means that the deletion was 69,379bp in size. The deletion was in frame. This means that an altered version of dystrophin can be produced which means that the patient can expect less severe symptoms than others that are affected. This information can help doctors determine possible treatments and assist physicians in predicting the severity of symptoms for this patient.