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  Abstracts: Use of four intragenic polymorphisms in the 3'UTR of the PMP-22 gene in the diagnosis of the 17p11.2 deletion in HNPP  
  October 06, 1995



P. Young (1), H. Wiebusch (2), F. Stoegbauer (1), H. Masur (1), B. Ringelstein (1), G. Assmann (2,3), and H. Funke (2,3)
Departments of (1) Neurology, (2) Clinical Chemistry and (3) Institute for Atherosclerosis Research, University of Muenster, Germany  

2nd Workshop Neurogenetics in Germany, Munich, October 19-21, 1995

Large insertions and deletions on chromosome 17 including the peripheral myelin protein-22 (PMP-22) gene locus have been demonstrated to cause inherited motor and sensory neuropathies (Charcot-Marie-Tooth Disease, CMT; Hereditary neuropathy with liability to pressure palsies, HNPP). The majority of HNPP cases are associated with a deletion of a 1.5 Mb segment on chromosome 17p11.2 including the PMP-22 gene. We previously identified four dimorphic nucleotide positions (591 A/C, 760Their total heterozygozity rate is 0.8. With the aid of these new intragenic markers we analyzed a large HNPP-family. In this pedigree a loss of heterozygozity was observed. In addition, none of the 16 clinically affected members of the family was heterozygous at either of the polymorphic sites. Thus we conclude that in this family one allele of PMP-22 is deleted. The deletion was confirmed by FISH-analysis. The use of the above described intragenic markers facilitates the diagnosis of the PMP-22 deletion in patients with HNPP since it avoids time consuming procedures such as FISH-analysis, Southern blotting or pulsed-field gel electrophoresis.


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