| 摘要 |
Methods are described for detecting an alteration in a gene of interest, such as 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 all or a portion of a human mobile element (e.g., 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 the alteration in the gene of interest; alternatively, the methods amplify target DNA using primers designed such that PCR products are formed only if the test sample comprises genomic DNA that does not comprise the alteration in the gene of interest. 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 alteration in the gene of interest. The methods can be used to identify whether an individual is at risk for a disease or condition associated with the alteration in the gene of interest, as the presence of the alteration correlates with risk for the disease. |
