Issue 22 (November 30, 1997) Volume 23 of Blood Cells, Molecules, & Diseases (ISSN 1079-9796)
Amaral, O., Marcão, A., Pinto, E., Zimran, A., Sá Miranda, M.C. - Distinct Haplotype in Non-Ashkenazi Gaucher Patients with N370S Mutation . . . . . 415-416

ABSTRACT. A new polymorphism, in intron 7 of glucocerebrosidase gene, has been identified in Gaucher Disease patients. It seems to appear only in Pv1.1- alleles bearing the N370S mutation. This new sub-haplotype was only identified in Portuguese patients, of origins spanning all of the Portuguese continental territory. This finding indicates that, in the Portuguese, mutation N370S has existed in the context of two slightly different haplotypes and thus must be relatively ancient.

Keywords: Haplotypes, glucocerebrosidase, Gaucher disease, Portugal.

Reprint requests to: M. Clara Sá Miranda, Ph.D., Head of Enzymology Department, Instituto de Genetica Medica, R Campo Alegre 823, 4150 Porto, PORTUGAL, phone and fax: 351-2-6092404, e-mail: samir-ue@individual.eunet.pt.
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Issue 22 (November 30, 1997) Volume 23 of Blood Cells, Molecules, & Diseases (ISSN 1079-9796)
Gallagher, P.G., Forget, B.G. - Hematologically Important Mutations: Band 3 and Protein 4.2 Variants in Hereditary Spherocytosis . . . . . 417-421

No abstract.

Keywords: Hereditary spherocytosis, mutation, band 3, protein 4.2, erythrocyte.

Reprint requests to: Patrick G. Gallagher, M.D., Department of Pediatrics, Yale University School of Medicine, 333 Cedar Street, P.O. Box 208064, New Haven, CT 06520-8064, phone: (203) 737-2896, fax: (203) 785-5426, e-mail: patrick_gallagher@qm.yale.edu.
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