Interpretation of Test Results

To compare the sensitivity of SSCP and DHPLC for detection of allele variants of SLC26A4, Prasad et al. screened a panel of 55 individuals segregating 41 different sequence-verified coding mutations. All 41 allele variants of SLC26A4 were identified by DHPLC by their elution profile, for a detection rate of 100%. Nineteen mutations were detected at all three partial denaturing temperatures, ten mutations were detected at two of three temperatures, and 12 mutations were detected at only one temperature. Of the four common mutations, L236P and E384G showed discrete elution profiles at all three temperatures, but T416P and IVS8+1G^A were detected at only two and one temperatures, respectively. Mutations were tested multiple times from different samples to confirm test-retest reliability. Elution profiles of the four most common SLC26A4 mutant alleles were distinct and easily could be differentiated from one another.

SSCP detected 26 (63%) of these same allele variants. Of the missed mutations, five (V138F, G209V, FS400, G672E, H723R) have been reported in more than one family. Three of the most common mutations (L236P, IVS8+1G^A, T416P) were detected by SSCP, although detection of L236P and IVS8+1G^A was not consistent.45

The finding that DHPLC sensitivity for detecting SLC26A4 allele variants is 100% is similar to results reported by Taliani et al.33 for DHPLC screen of PROC, a gene that encodes protein C, for variant identification. More than 200 different mutations in this gene are associated with an increased susceptibility to venous thromboembolism.33 Other authors have reported the sensitivity of DHPLC to range from 95% to 100%.30-32

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