Lenti C, Gambini E, Illeni M T, Ghidoni A
Istituto di Neuropsichiatria Infantile, Università di Milano.
Ital J Neurol Sci. 1990 Dec;11(6):577-82. doi: 10.1007/BF02337441.
21 Italian families with at least two members who had had febrile convulsions (FC) were HLA-typed for class I antigens. A total of 49 subjects and 43 close relatives (parents or sibs) were examined. No single antigen or haplotype was statistically more frequent among pooled FC subjects. The study, however, is not conclusive regarding a relationship between FC and HLA region because of the possible genetic heterogeneity of proneness to FC. In a significant proportion of cases two FC affected sibs had unaffected parents: besides the models of inheritance so far proposed for this pathology, the involvement of two complementary dominant factors was also considered. The report includes uncommon cases: a family where one FC affected parent transmitted the same HLA haplotype to all three affected sibs; two more families, with both parents and progeny affected by FC. The HLA typing of all members of these unusual families, although not furnishing relevant information at present, may be of value to other investigators.
对21个至少有两名成员曾发生过热性惊厥(FC)的意大利家庭进行了I类抗原的HLA分型。共检查了49名受试者和43名近亲(父母或兄弟姐妹)。在汇总的FC受试者中,没有单一抗原或单倍型在统计学上更为常见。然而,由于FC易感性可能存在遗传异质性,该研究关于FC与HLA区域之间的关系尚无定论。在相当一部分病例中,两名患FC的兄弟姐妹的父母未患病:除了迄今为止针对这种病理提出的遗传模式外,还考虑了两个互补显性因素的参与。该报告包括一些罕见病例:一个家庭中,一名患FC的父母将相同的HLA单倍型传递给了所有三名患病的兄弟姐妹;另外两个家庭中,父母和后代均患FC。这些特殊家庭所有成员的HLA分型,尽管目前未提供相关信息,但可能对其他研究人员有价值。