An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21 (original) (raw)

References

1. Todd, J.A. & Steinman, L. Genetic dissection of tolerance. Curr. Op. Immuml. 4, 699–702 (1992).
   Article CAS Google Scholar
2. Yetman, N., Sachs, J. & Bottazzo, G.F., AutoImmunity – towards the year 2001. Immunol. Today 13, 239–240 (1992).
   Article Google Scholar
3. Ahonen, P., Koskimies, S., Lokki, M.-L., Tiilikainen, A. & Perheentupa, J. The expression of Autoimmune Polyglasidular Disease Typel Appears Associated With Several HLA-A Antigens But Not With HLA-DR. J. clin. Endocrinol. Metab. 66, 1152–1157 (1988).
   Article CAS PubMed Google Scholar
4. McKusick, V.A. Mendelian Inheritance In Man 10th edn (Johns Hopkins University Press, Baltimore, 1992).
   Google Scholar
5. Ahonen, P. Autoimmune polyendocrinopathy-candidosis-ectodermal-dystrophy (APECED): Autosomal recessive inheritance. Clin. Genet. 27, 535–542 (1985).
   Article CAS PubMed Google Scholar
6. Ahonen, P., Myllärniemi, S., Sipilä, I. & Perheentupa, J. Clinical variation of autoimmune polyendocrlnopathy-candidiasis-ectodermal dystrophy (APECED) in series of 68 patients. New Engl. J. Med. 322, 1829–1836 (1990).
   Article CAS PubMed Google Scholar
7. Zlotogora, J. & Shapiro, M.S. Polyglandular autoimmune syndrome type I among Iranian Jews. J. med. Genet. 29, 824–826 (1992).
   Article CAS PubMed PubMed Central Google Scholar
8. Norio, R. Diseases of Finland and Scandinavia; Biocultural Aspects of Diseases (ed. Rothschild, H.R.) 359–415 (Academic Press, New York, 1981).
   Google Scholar
9. Syvänen, A.-C. et al. Convenient and Quantitative Determination of the Frequency of a Mutant Allele Using Solid-Phase Mlnlsequencing: Application to Aspartylglucosaminurla in Finland. Genomics 12, 1–6 (1991).
   Google Scholar
10. Hästbacka, J. et al. Linkage disequilibrium mapping In Isolated founder populations: diastrophlc dysplasia in Finland. Nature Genet. 2, 204–211 (1992).
    Article PubMed Google Scholar
11. Lehesjoki, A.-E. et al. Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum. molec. Genet. 2, 1229–1234 (1993).
    Article CAS PubMed Google Scholar
12. Aaltonen, J. et al. Autoimmune Polyglandular Disease Type I: Exclusion Map Using Amplifiable Muttiallellc Markers in a Microtiter Well Format. Eur. J. hum. Genet. 1, 164–171 (1993).
    Article CAS PubMed Google Scholar
13. Lawrence, S., Collins, A., Keats, B.J., Hulten, M. & Morton, N.E. Integration of gene maps: Chromosome21. Proc. natn. Acad. Sci. U.S.A. 90, 7210–7214 (1993).
    Article CAS Google Scholar
14. Luria, S.E. & Delbrück, M. Mutations of bacteria from virus sensitivity to virus resistance. Genetics 28, 491–511 (1943).
    CAS PubMed PubMed Central Google Scholar
15. Carson, A. Genetic factors in the etiology and pathogenesis of autoimmunity. FASEB J. 6, 2800–2805 (1992).
    Article CAS PubMed Google Scholar
16. Hellsten, E. et al. Refined Assignment of the Infantile Neuronal Ceroid Upofusclnosls (INCL, CLN1) locus at 1p32: Incorporation of Linkage Disequilibrium in Multipoint Analysis. Genomics 16, 720–725 (1993).
    Article CAS PubMed Google Scholar
17. Antonarakis, S.E. Human chromosome 21: genome mapping and exploration, circa 1993. Trends Genet. 9, 142–148 (1993).
    Article CAS PubMed Google Scholar
18. Gu, Z. et al. Identification of a molecular defect in homocystinuria due to cystathionlne beta-synthase deficiency. Am. J. hum. Genet. 49, 406A (1991).
    Google Scholar
19. Levanon, D., Danciger, E., Dafni, N. & Groner, Y. Genomlc clones of the human liver-type phosphofructoklnase. Biochim. Biophys. res. Comm. 141, 374–386 (1986).
    Article CAS Google Scholar
20. Arnaout, M., Dana, N., Gupta, S., Tenen, D. & Fathallah, D., Expression of the Common β Subunit (CD18) in a Patient with Leukocyte Adhesion Molecule (Leu-CAM) Deficiency. J. clin. Invest. 85, 977–989 (1990).
    Article CAS PubMed PubMed Central Google Scholar
21. Hawkins, J.W. et al. Confirmation of assignment of the human alpha-1 -crystallin gene (CRYA1) to chromosome 21 with regional localization to q22.3. Hum. Genet. 76, 375–380 (1987).
    Article CAS PubMed Google Scholar
22. Vandenplas, S. et al. Blot hybridization analysis of genomic DNA. J. med. Genet. 21, 164–172 (1984).
    Article CAS PubMed PubMed Central Google Scholar
23. Mullis, K.B. & Faloona, F.A. Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction. Meth. Enzymol. 155, 335–350 (1987).
    Article CAS Google Scholar
24. Lathrop, G.M., Lalouel, J.M., Julier, C. & Ott, J. Strategies for multilocus linkage analysis in humans. Proc. natn. Acad. Sci. U.S.A. 81, 3443–3446 (1984).
    Article CAS Google Scholar
25. Conneally, P.M. et al. Report of the committee on methods of linkage analysis and reporting. Cytogenet. cell Genet. 40, 356–359 (1985).
    Article CAS PubMed Google Scholar

Download references