Gene analysis and carrier detection of Duchenne muscle dystrophy in Egyptian families

ABSTRACT

Duchenne and Becker muscular dystrophy [D/BMD] are X-linked recessive disorders resulting from mutations in the DMD gene. Since there is no cure or effective treatment for progressive muscular dystrophy, prevention of the disease is important and strongly depends on carrier status in-formation. Two-thirds of DMD/BMD cases are familial, thus female relatives are candidates for carrier-risk assessment. Segregation analysis of polymorphic 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 relatives 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 results of CPK of the carriers and linkage 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