| Objective: To assess the practical value of denaturing high performance liquid chromatography (DHPLC) in the gene diagnosis of the childhood type spinal muscular atrophy (SMA) and in the gene screening of the SMA carriers.Methods: To diagnose SMA or no-SMA, the 37 selected children with suspicion of childhood type SMA were diagnosed by clinical standard. To make gene diagnose and judge the carriers, the SMN1 copy numbers of the selected children, parents of the SMA children diagnosed by clinical standard were detected by DHPLC combinated with double-PCR.The results from the two methods were compared by the sensitivity, specificity, etal.Analasy the carry information of the SMA children's parents.Result: (1) Of the 37 selected children diagnosed by clinical standard, 17 children were diagnosed SMA patients and 20 children were diagnosed non-SMA patients. (2) The 37 selected children's samples detected by DHPLC. Of the 17 clinical diagnosed SMA children, 14 had 0 copy of SMN1, were SMA patients of homozygous deletions type. 2 had 1 copy of SMN1, were SMA patients of heterozygous deletions type, 1 had 2 copies of SMN1, were non-SMA patients. The 20 clinical diagnosed non-SMA children had 2 copies of SMN1, were non-SMA patients. (3) Compared with the clinical standard, the sensitivity of the DHPLC is 94.1%, and the specificity is 100%. (4) The 34 parents samples of the 17 clinical diagnosed SMA patients detected by DHPLC, 1 had 0 copy of SMN1, 6 had 2 copies of SMN1, 27 had 1 copy of SMN1,were considered the"1+0"type SMA carriers. The detection rate of this method to the SMA children's parents is 79.4%.Conclusion: SMN1 copy numbers could be detected by DHPLC. With the highly sensitivity and specificity of gene diagnosis of SMA and the simple, rapid method, the DHPLC is fit for practical application. Using for screening of SMA carriers could provide essential data for genetic counseling and prenatal diagnosis.
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