MOLECULAR DIAGNOSTICS OF BULGARIAN PATIENTS WITH CMT1 USING POLYMORPHIC DNA MARKERS
Ivanova N1, Jordanova A1, Kantardjieva A1, Tournev I2, Ishpekova B2, Gergelcheva V2, Daskalov M2, Litvinenko I3, Veleva S2, Mitev V4, Kremensky I1
*Corresponding Author: Dr. Albena Jordanova, Laboratory of Molecular Pathology, Sofia Medical UniverŽsity, 1431 Sofia, Bulgaria; Tel: +359 2 9520124; Fax: +359 2 9520490; E-mail: ajordanova@excite.com
page: 41

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2. Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy type I and II. Brain 1980; 103: 259-280.

3. Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR. Two autosomal dominant neur­opathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 1994; 3: 223-228.

4. Dyck PJ, Chance P, Lebo R, Carney JA. 1993. Hereditary motor and sensory neuropathies. In: Peripheral Neuropathy, Dyck PJ, Thomas PK, Griffin JW, Low PA, Podulso JF (eds). W.B. Saunders Company, Philadelphia, PA, USA, 1993; 1094-1136.


5. Lupski JR, Wise CA, Kuwano A, Pentao L, Parke JT, Glaze DG, Ledbetter DH, Greenberg F, Patel PI. Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nature Genet 1992; 1: 29-33.

6. Lupski JR. DNA diagnostics for Charcot-Marie-Tooth disease and related inherited neuropathies. Clin Chem 1996; 42: 995-998.

7. Young P, Stogbauer F, Wiebusch H, Lofgren A, Timmerman V, van Broeckhoven C, Ringelstein EB, Assmann G, Funke H. PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A. Neurology 1998; 50: 760-763.

8. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.

9. Chen KL, Wang YL, Rennert H, Joshi I, Mills JK, Leonard DG, Wilson RB. Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence-based carrier testing for spinal muscular atrophy. Am J Med Genet 1999; 85 (5): 463-469.

10. Cudrey C, Chevillard C, Le Paslier D, Vignal A, Passage E, Fontes M. Assignment of microsatellite sequences to the region duplicated in CMT1a (17p12): a useful tool for diagnosis. J Med Genet 1995; 32: 231-233.

11. Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Sacedo-Cardenas O, Barker DF, Killian JM, Garcia CA. DNA duplication associated with Charcot-Marie-Tooth type 1A. Cell 1991; 66: 219-239.




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