摘要 |
The present invention relates to a process to determine heterozygote genomic DNA duplication or deletion, and to a test kit for the determination of a disease related to a heterozygote duplication or deletion of the 17p11.2-12 genomic DNA. Further, the invention relates to a process for the determination of Charcot-Marie-Tooth 1A (CMT1A) or Heriditary neuropathy with liability to pressure palsies (HNPP) heterozygosity. Further, the present invention also provides polynucleotide molecules and kits which can be used to determine said diseases. |