Mutation analysis of the human pancreatic phospholipase A2 gene in a family with distal hereditary motor neuropathy type II linked to 12q24

Neuroscience Letters

Volumn 223, Issue 1, 1997, Pages 69-71

  Beuten, Joke ^a   De Vriendt, Els ^a   De Jonghe, Peter ^a   Martin, Jean Jacques ^b   Van Broeckhoven, Christine ^a   Timmerman, Vincent ^a  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

Chromosome 12q24; Distal hereditary motor neuropathy type II; Human pancreatic phospholipase A2; Mutation analysis

Indexed keywords

PHOSPHOLIPASE A2;

ARTICLE; CASE REPORT; CHROMOSOME 12; CONTROLLED STUDY; DNA DETERMINATION; GENE EXPRESSION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; MUTATION; PANCREAS; PRIORITY JOURNAL;

CHROMOSOMES, HUMAN, PAIR 12; GENES; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; LINKAGE (GENETICS); MUTATION; PANCREAS; PHOSPHOLIPASES A; POLYMERASE CHAIN REACTION;

EID: 0031056323     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0304-3940(97)13400-0     Document Type: Article

References (14)

1. 2: secondary-structure prediction, circular dichroism and relative interface hydrophobicity, Eur. J. Biochem., 137 (1983) 537-544.
2. 2 according to sequence: evolutionary and pharmacological implications, Eur. J. Biochem., 137 (1983) 545-551.
3. Gispert, S., Twells, R., Orozco, G., Brice, A., Weber, J., Heredero, L., Scheufler, K., Riley, B., Allotey, R., Nothers, C., Hillermann, R., Lunkes, A., Khati, C., Stevanin, G., Hernandez, A., Magariño, C., Klockgether, T., Durr, A., Chneiweiss, H., Enczmann, J., Farrall, M., Beckmann, J., Mullan, M., Wernet, P., Agid, Y., Freund, H.-J., Williamson, R., Auburger, G. and Chamberlain, S., Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1, Nature Genet., 4 (1993) 295-299.
4. Hammond, H.A., Jin, L., Zhong, Y., Caskey, C.T. and Chakraborty, R., Evaluation of 13 short tandem repeat loci for use in personal identification applications, Am. J. Hum. Genet., 55 (1994) 175-189.
5. Harding, A.E., Inherited neuronal atrophy and degeneration predominantly of lower motor neurons. In P.J. Dyck, P.K. Thomas, J.W. Griffin, P.A. Low and J.F. Poduslo (Eds.), Peripheral Neuropathy, W.B. Saunders, Philadelphia, 1993, pp. 1051-1064.
6. Kramer, R.M., Hession, C., Johansen, B., Hayes, G., McGray, P., Chow, E.P., Tizard, R. and Pepinsky, R.B., Structure and properties of a human non-pancreatic phospholipase A2, J. Biol. Chem., 264 (1989) 5768-5775.
7. 2, regulation in Schwann cells. In Abstract Book of the Peripheral Nerve Society, October 6-9, 1995, p. 72.
8. Polymeropoulos, M.H., Rath, D.S., Xiao, H. and Merril, C.R., Tri-nucleotide repeat polymorphism at the human pancreatic phospholipase A-2 gene (PLA2), Nucleic Acids Res., 18 (1990) 7468.
9. 2: isolation of the human gene and cDNAs from porcine pancreas and human lung, DNA, 5 (1986) 519-527.
10. Sparkes, R.S., Mohandas, T., Heinzmann, C., Seilhamer, J.J., Lusis, A.J. and Johnson, L.K., Assignment of the gene for pancreatic phospholipase A2 to human chromosome 12, Cytogenet. Cell Genet., 46 (1987) 697.
11. Timmerman, V., Raeymaekers, P., Nelis, E., De Jonghe, P., Muylle, L., Ceuterick, C., Martin, J.-J. and Van Broeckhoven, C., Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree, J. Neurol. Sci., 109 (1992) 41-48.
12. Timmerman, V., De Jonghe, P., Simokovic, S., Löfgren, A., Beuten, J., Nelis, E., Ceuterick, C., Martin, J.-J. and Van Broeckhoven, C., Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24, Hum. Mol. Genet., 5 (1996) 1065-1069.
13. Van Den Bosch, H., Intracellular phospholipases A, Biochim, Biophys. Acta, 604 (1980) 191-246.
14. 2: protection of membranes from lipid peroxidation damage, Trends Biochem. Sci., 12 (1987) 31-34.