Summary
Blood samples from 21 patients with familial amyloid polyneuropathy (FAP) and 81 normal family members among 7 affected families in Arao were tested for 9 blood group systems, 8 serum polymorphic proteins, 12 red cell polymorphic enzymes, and HLA. One of the most important findings was the existence of two relatively rare variants,i.e., group specific component Gc*1A2 and phosphoglucomutase PGM1*7 in 3 families. This observation suggests that the three genealogically independent families may have a common ancester. Phenotype AB in the ABO blood group system, phenotype 1 in the haptoglobin system, and M2 gene in the protease inhibitor system were not seen, and phenotype Jk(a+b−) in the Kidd groups was found in only one patient. Whether these observations reflect the characteristics of FAP in the Arao district or that of FAP itself can not be determined from the present study. No phenotype attributable to Caucasians was found, hence the study provides no support for the hypothesis that the gene for FAP was introduced into Japan by the Portuguese.
Similar content being viewed by others
Article PDF
References
Alper, C.A., Boenish, T., and Watson, L. 1972. Genetic polymorphism in human glycine-rich betaglycoproteinJ. Exp. Med. 35:68–80.
Andersson, R. 1976. Pamilial amyloidosis with polyneuropathy.Acta Med. Scand. Suppl.590: 1–64.
Andrade, C., Canijo, M., Klein, D., and Kaelin, A. 1969. The genetic aspect of the familial amyloidotic polyneuropathy.Humangenetik 7:163–175.
Andrade, C., Araki, S., Block, W.D., Cohen, A.S., Jackson, C.E., Kuroiwa, Y., McKusick, V.A., Nissim, J., Sohar, E., and Van Allen, M.W. 1970. Hereditary amyloidosis.Arthr Rheum. 13:902–915.
Araki, S., Mawatari, S., Ohta, M., Nakajima, A., and Kuroiwa, Y. 1968. Polyneuritic amyloidosis in a Japanese family.Arch. Neurol. 18:593–602.
Araki, S., Kurihara, T., and Kuribayashi, T. 1982. Familial amyloidotic polyneuropathy and HLA.Clin. Immunol. 14[Suppl. 4]: 96–102 (in Japanese).
Baur, M.P. and Danilovs, J.A. 1980. Population analysis of HLA A, B, C, DR, and other genetic markers. InHistocompatibility Testing, Terasaki, Paul I., ed., UCLA Tissue Typing Laboratory, Los Angeles, pp. 955–993.
Constans, J. and Viau, M. 1977. Group specific component: Evidence for two subtypes of the Gc1 gene.Science 198:1070–1071.
Giblett, E.R. 1969.Genetic Markers in Human Blood, F.A. Davis Co., Phila, Pa.
Glenner, G.G., Ignaczak, T.F., and Page, D.L. 1978. The inherited systemic amyloidosis and localized amyloid deposits. InThe Metabolic Basis of Inherited Disease, Stanbury, J.B., Wyngaarden, J.B., and Fredrickson, D.S., eds., 4th Ed., McGraw-Hill Book Co., New York, pp. 1308–1339.
Harris, H. and Hopkinson, D.A. 1976.Handbook of Enzyme Electrophoresis in Human Genetics, North-Holland/American Elsevier, Amsterdam, Oxford, New York.
Kito, S., Fujimori, N., Yamamoto, M., Itoga, E., Toyoizumi, Y., Kakizaki, T., Mitsui, Z., Ichikawa, H., Morinaga, T., Wakatsuki, K., Satoh, S., and Iwasaki, I. 1973. A focus of familial amyloid polyneuropathy.Nippon Rinsho 31:2326–2338.
Kueppers, F. and Christopherson, M.J. 1978. Alpha1-antitrypsin: further genetic heterogeneity revealed by isoelectric focusing.Am. J. Hum. Genet. 30:359–365.
Matsumoto, H., Toyomasu, T., Tamaki, Y., Katayama, K., and Matsui, K. 1979. The distribution of Gc subtypes in Japanese and its application in paternity case.Jpn. J. Legal Med. 33:74–79.
Omoto, K. and Miyake, K. 1978. The distribution of the group specific component (Gc) subtypes in Japanese.Jpn. J. Human Genet. 23:119–135.
Sakoda, S., Suzuki, T., Higa, S., Ueji, M., Kishimoto, S., Hayashi, A., Yasuda, N., Takaba, Y., and Nakajima, A. 1983. Genetic studies of familial amyloid polyneuropathy in the Arao district of Japan: I. The genealogical survey.Clin. Genet. 24:334–338.
Satoh, C., Ferrell, R.E., Tanis, R.J., Ueda, N., Kishimoto, S., Neel, J.V., Hamilton, H.B., and Baba, K. 1977. The frequency in Japanese of genetic variants of 22 proteins.Ann.Hum. Genet. (Lond.) 41:169–183.
Steinberg, A.G. 1962. Progress in the study of genetically determined human gamma globulin types (the Gm and Inv groups)Progress Med. Genet. 2:1–33.
Sutton, J.G. and Burgess, R. 1978. Genetic evidence for four common alleles at the phosphoglucomutase-1 locus detectable by isoelectric focusing.Vox Sang.34:97–103.
Tokunaga, K., Omoto, K., Araki, C., and Juji, T.. 1980. Genetic polymorphism of the second component of human complement (C2) in Japanese.Jpn. J. Human Genet. 25:287–293.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Sakoda, S., Suzuki, T., Higa, S. et al. The genetic studies of familial amyloid polyneuropathy in the Arao district of Japan: II. Studies of genetic markers in blood. Jap J Human Genet 29, 51–57 (1984). https://doi.org/10.1007/BF01876758
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF01876758
Keywords
This article is cited by
-
Genetic studies of familial amyloid polyneuropathy in the Arao district of Japan
Japanese Journal of Human Genetics (1984)