Detection of C4A deletion by long range PCR

US6225093A · kind A · utility

Assignee

• deCode Genetics ehf · IS

Inventors

• Struan F.A. Grant · Reykjavík, IS
• Thorarinn Blondal · Gardabani, GE

Key dates

• Filing date: Dec 23, 1999
• Grant date: May 1, 2001
• Expiry date: Dec 23, 2019

Classification

• Technology area (CPC C): Chemistry; Metallurgy
• CPC primary: C12Q2600/172
• WIPO field: Biotechnology
• WIPO sector: Chemistry

Abstract

Methods are described for detecting a deletion in the C4A gene (e.g., for detecting C4AQ0), by performing long range polymerase chain reaction amplification on a test sample comprising genomic DNA. The methods amplify target DNA comprising a retroviral insert in intron 9 of the C4A gene using primers designed such that PCR products are formed only if the test sample comprises genomic DNA comprising a deletion in the C4A gene; alternatively, the methods amplify target DNA comprising the junction between intron 9 and the retroviral insert in intron 9 of the C4A gene using primers designed such that PCR products are formed only if the test sample comprises genomic DNA that does not comprise the deletion in the C4A gene. Alternatively, primers are designed such that PCR products have detectably different sizes, depending on whether or the test sample comprises genomic DNA that comprises the deletion in the C4A gene. The methods can be used to identify whether an individual is at risk for systemic lupus erythematosus, as the presence of a deletion in the C4A gene correlates with risk for the disease, and can also be used for C4A deletion genotyping of an individual.