Mattina T, Li Volti S, Palmeri P, Tribulato A, Salerno A, Mollica F
Cattedra di Pediatria Sociale e Puericultura, Università di Catania, Italy.
Ophthalmic Paediatr Genet. 1988 Mar;9(1):25-8. doi: 10.3109/13816818809031477.
A Sicilian family with three siblings affected by Wolfram's syndrome (Ws) is reported. HLA typing was performed in eight individuals from this family through three generations. Two of the three patients were HLA DR2 positive. The results suggest that the gene for Ws is not linked to the HLA region on chromosome 6, but located on some other chromosome, and that the allele HLA DR2 might predispose to the mutation responsible for Ws.
据报道,一个西西里家庭中有三个兄弟姐妹患有沃尔弗拉姆综合征(Ws)。通过三代人对这个家庭的八个人进行了HLA分型。三名患者中有两名HLA DR2呈阳性。结果表明,Ws基因与6号染色体上的HLA区域没有连锁关系,而是位于其他一些染色体上,并且等位基因HLA DR2可能易患导致Ws的突变。