Author/Authors :
Shawky, Rabah M. Ain Shams University - Faculty of Medicine - Department of Pediatrics and Genetics, Egypt , Elhawary, Nasser A. Ain Shams University - Medical Genetics Center, Egypt , Salem, Mohamed S.Z. Ain Shams University - Faculty of Medicine - Department of Pediatrics and Genetics, Egypt , Elgebaly, Howayda H. Ain Shams University - Institute of Childhood Studies - Medical Studies Department, Egypt , EI-Sayed, Nermine S. Ain Shams University - Medical Genetics Center, Egypt
Abstract :
Duchenne and Becker muscular dy-strophy (D/BMD) are X-linked reces-sive disorders resulting from muta-tions in the DMD gene. Since there is no cure or effective treatment for pro-gressive muscular dystrophy, preven-tion of the disease is important and strongly depends on carrier status in-formation. Two-thirds of DMD/BMD cases are familial, thus female relativ-es are candidates for carrier-risk as-sessment. Segregation analysis of po- lymorphic short tandem (CA)n repeats [STR-(CA)n] was used to establish and compare the haplotypes of DMD patients with those of their at-risk rela-tives in order to determine the carrier status. However, 59 D/BMD index families and 35 of their at-risk female relatives were analyzed using the ion-pair reversed phase high performance liquid chromatography (IP-RP-HPLC) method. Comparison between the re-sults of CPK of the carriers and link-age analysis revealed that values higher than the normal level were compatible in 100% of the cases with the carrier status. On the other hand, normal values do not distinguish between the healthy and carrier populations. In conclusion, the unlabeled IP-RP-HPLC-STR assay represents an excellent molecular tool for carrier- status identification and consequently the genetic counseling for the early prevention of such diseases.
