Preimplantation diagnosis of non-deletion Duchenne muscular dystrophy (DMD) by linkage polymerase chain reaction analysis

The use of preimplantation diagnosis for sex determination and detection ofexon deletion means that unaffected babies can be born to parents sufferingfrom Duchenne muscular dystrophy (DMD). However, those who do not have exondeletion should also be considered for further investigation. A new method,known as linkage analysis, has been developed to diagnose the presence ofnon-deletion DMD in preimplantation embryos. Linkage analysis usesinformative intragenic and flanking markers to track the chromosome bearingthe mutated gene. The present study reports the analysis of two polymorphicsites, in blastomeres biopsied from embryos from a female carrier of DMD. Asingle male embryo was obtained who had inherited alternate maternalalleles to the woman's affected surviving son, and this embryo wastransferred.