DQB1-ASTERISK-0602 AND DQA1-ASTERISK-0102 (DQ1) ARE BETTER MARKERS THAN DR2 FOR NARCOLEPSY IN CAUCASIAN AND BLACK-AMERICANS

被引:136
作者
MIGNOT, E
LIN, X
ARRIGONI, J
MACAUBAS, C
OLIVE, F
HALLMAYER, J
UNDERHILL, P
GUILLEMINAULT, C
DEMENT, WC
GRUMET, FC
机构
[1] STANFORD UNIV,SCH MED,DEPT GENET,PALO ALTO,CA 94304
[2] STANFORD UNIV,CTR BLOOD,PALO ALTO,CA 94304
关键词
NARCOLEPSY; CATAPLEXY; HLA DR; HLA DQ; REM SLEEP;
D O I
10.1093/sleep/17.suppl_8.S60
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
In the present study, we tested 19 Caucasian and 28 Black American narcoleptics for the presence of the human leucocyte antigen (HLA) DQB1*0602 and DQA1*0102 (DQ1) genes using a specific polymerase chain reaction (PCR)-oligotyping technique. A similar technique was also used to identify DRBI*1501 and DRB1*1503 (DR2). Results indicate that all but one Caucasian patient (previously identified) were DRB1*1501 (DR2) and DQB1*0602/DQA1*102 (DQ1) positive. In Black Americans, however, DRB1*1501 (DR2) was a poor marker for narcolepsy. Only 75% of patients were DR2 positive, most of them being DRB1*1503, but not DRB1*1501 positive. DQB1*0602 was found in all but one Black narcoleptic patient. The clinical and polygraphic results for this patient were typical, thus confirming the existence of a rare, but genuine form of DQB1*0602 negative narcolepsy. These results demonstrate that DQB1*0602/DQA1*0102 is the best marker for narcolepsy across all ethnic groups.
引用
收藏
页码:S60 / S67
页数:8
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