HLA and narcolepsy in a German population

Wiley - Tập 28 Số 3 - Trang 163-169 - 1986
G. Mueller‐Eckhardt1, K. Meier‐Ewert2, Dolores J. Schendel3, F. B. Reinecker1, Gabriele Multhoff3, C. Mueller‐Eckhardt1
1Institute of Clinical Immunology and Blood Transfusion, University of Giessen, Schwalmstadt, FRG
2Neurological Hospital and Sleep Disorder Unit, Schwalmstadt, FRG
3Institute for Immunology, University of München, FRG

Tóm tắt

In this paper the first MHC data including HLA‐A, B, C, DR, DQ and complement BF, C4A, C4B determinants in German narcoleptics are presented together with the first family studies in European Caucasoids. 57 out of 58 unrelated patients (98.3%) were positive for DR2 and DQw1, respectively. In contrast to all other reports, one patient with typical signs of narcolelpsy was found to be DR2/DQw1 negative. Data showing significant increase in the frequency of B7, and normal frequencies of B35 were discordant with data from Japanese patients. Definition of the extended DR2 linked haplotypes, deduced from 6 families, revealed that 5 out of 12 were DQw1, DR2, BFS, C4B1, C4A3, B7 (Cw7), while 11/12 had DR2, DQw1, BFS, C4A3, C4B1 in common. In one multiple case family two genotypically different DR2 haplotypes were identified in affected siblings. Results from the family study were concordant with a dominant mode of inheritance with incomplete penetrance of a hypothetical disease susceptibility gene.

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