DQB1*0602 and DQA1*0102 (DQ1) Are Better Markers Than DR2 for Narcolepsy in Caucasian and Black Americans
| Autor: | Claudia Macaubas, Christian Guilleminault, Janis Arrigoni, Emmanuel Mignot, F. C. Grumet, Peter A. Underhill, F Olive, X. Lin, W C Dement, Joachim Hallmayer |
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| Rok vydání: | 1994 |
| Předmět: |
musculoskeletal diseases
medicine.medical_specialty endocrine system diseases Black People Sleep REM chemical and pharmacologic phenomena Neurological disorder Human leukocyte antigen Polymerase Chain Reaction White People law.invention immune system diseases law HLA-DQ Antigens Physiology (medical) medicine Humans Family skin and connective tissue diseases Polymerase chain reaction Narcolepsy Catalepsy Sleep disorder business.industry Haplotype HLA-DR Antigens medicine.disease Dermatology United States Haplotypes Genetic marker Neurology (clinical) business Negroid |
| Zdroj: | Sleep. 17:S60-S67 |
| ISSN: | 1550-9109 0161-8105 |
| DOI: | 10.1093/sleep/17.suppl_8.s60 |
| Popis: | 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 DRB1*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. |
| Databáze: | OpenAIRE |
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