Jorde L B, Mason-Brothers A, Waldmann R, Ritvo E R, Freeman B J, Pingree C, McMahon W M, Petersen B, Jenson W R, Mo A
Department of Human Genetics, University of Utah School of Medicine, Salt Lake City 84132.
Am J Med Genet. 1990 May;36(1):85-8. doi: 10.1002/ajmg.1320360116.
To assess familial aggregation of autism, 86 autistic subjects were linked to the Utah Genealogical Database. Kinship coefficients were estimated for all possible pairs of autistic subjects and then averaged. Fifty replicate sets of matched control subjects (86 members in each set) were drawn randomly from the database, and the average kinship coefficient was computed for all possible pairs of individuals in each set. The average kinship coefficient for the autistic subjects was approximately 1/1,000, while the average kinship coefficients for the 50 control groups ranged from 4/100,000 to 1.6./10,000. These results indicate a strong tendency for autism to cluster in families. When kinship was analyzed by specific degrees of relationship, it was shown that the familial aggregation of autism is confined exclusively to sib pairs and does not extend to more remote degrees of relationship. This finding indicates that a single-gene model is unlikely to account for most cases of autism.
为评估自闭症的家族聚集性，86名自闭症患者与犹他州家谱数据库进行了关联。计算了所有可能的自闭症患者对之间的亲属系数，然后求平均值。从数据库中随机抽取50组匹配的对照受试者（每组86名成员），并计算每组中所有可能个体对之间的平均亲属系数。自闭症患者的平均亲属系数约为1/1000，而50个对照组的平均亲属系数范围为4/100000至1.6/10000。这些结果表明自闭症在家族中具有很强的聚集倾向。当按特定亲缘关系程度分析亲属关系时，发现自闭症的家族聚集性仅局限于同胞对，并未扩展到更远的亲缘关系程度。这一发现表明单基因模型不太可能解释大多数自闭症病例。
