Molecular genetic diagnosis of the 1.5 Mb deletion causing hereditary neuropathy with liability to pressure palsies (HNPP) in a Polish family

• Autorzy: A.M. Kochanski , A. Lofgren , V. Timmerman , H. Jedrzejewska , A. Fidzinska , A. Latos-Bielenska , Ch. van_Browckhoven , Hausmanowa-Petrusewic

Abstrakty

EN

A molecular genetic analysis was performed in one Polish family with hereditary neuropathy with liability to pressure palsies (HNPP), using two distinct molecular genetic methods, i.e. RFLP and STR analysis. This permitted to reveal the presence of a 17p11.2 HNPP deletion both in the proband and in her mother. The molecular analysis in the proband was supplemented with nerve conduction rate tests and sural nerve biopsy. We conclude that the relatively low prevalence of HNPP in Poland is caused most probably by lack of access to molecular genetic testing. In the future HNPP molecular testing should be offered to all patients in Poland.

Słowa kluczowe

EN

NEUROPATHY; RFLP

• Czasopismo: Journal of Applied Genetics
• Rocznik: 1999
• Tom: 40
• Numer: 3
• Strony: 249-255

Twórcy

autor

A.M. Kochanski

autor

A. Lofgren

autor

V. Timmerman

autor

H. Jedrzejewska

autor

A. Fidzinska

autor

A. Latos-Bielenska

autor

Ch. van_Browckhoven

autor

Hausmanowa-Petrusewic

• Typ dokumentu: article
• Bibliografia: A.M. Kochanski, Department of Medical Genetics, Karol Marcinkowski University of Medical Sciences, ul. Szpitalna 27/33, 60-572 Poznan, Poland