HLA complement markers in Italian narcoleptic patients with special emphasis on BfF subtyping.
Thirty narcoleptic patients (29 out of 30 of Mediterranean origin) were studied for HLA polymorphisms (only 24 were investigated for HLA class III). We found that these patients are characterized by DR2, DQW2 phenotype (p less than 0.0001) as those of Anglo-Saxon origin so far studied and by the complotype: BfS, C4A3, C4B1. Just 1 of 7 BfF patients has the Fb subtype detected by isoelectric focusing technique (p = 0.007). The only patient of Black origin (his mother is Eritrean) is completely different from other patients (DR3,5; DQW2,W3; C4A4,4; C4B1,2), supporting the hypothesis that it is not the DR2, DQW1 phenotype per se involved in this syndrome. Subdividing the subjects according to different clinical features, we cannot demonstrate genetic heterogeneity.
Cuccia
M
M
Dipartimento di Genetica e Microbiologia, Università di Pavia, Italia.
Finco
O
O
Conte
R
R
Cirignotta
F
F
Ruberto
G
G
D000293:Adolescent; D000328:Adult; D002648:Child; D011415:Complement Factor B / Q000235:genetics; D003165:Complement System Proteins / Q000235:genetics*; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D006680:HLA Antigens / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009290:Narcolepsy / Q000235:genetics* / Q000276:immunology; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics
D005819:Genetic Markers; D006680:HLA Antigens; D003165:Complement System Proteins; D011415:Complement Factor B