“…This approach permits scanning of the complete coding sequence of a complex tissue-specific gene for a comprehensive range of mutations, including coding sequence changes, splice site mutations, and gross gene rearrangements, using a venous blood sample as its starting material. The use of mismatch detection to detect point mutations in amplified products of ectopic transcripts can also be applied to other diseases, as has been shown for example in hemophilia A (34) and Hunter syndrome (R. H. Flomen, P. M. Green, D.R.B., F. Giannelli, and E. P. Green, unpublished data). Although its application to autosomal disorders may be complicated by the additional presence of a normal gene, there is evidence that ectopic dystrophin transcripts in female lymphocytes originate from both copies of the gene (ref.…”