Clementi M, Angi M, Forabosco P, Di Gianantonio E, Tenconi R
Servizio di Genetica Clinica ed Epidemiologica, Dipartimento di Pediatria, Universitá di Padova, Italy.
Am J Hum Genet. 1998 Sep;63(3):825-30. doi: 10.1086/302014.
Although astigmatism is a frequent refractive error, its mode of inheritance remains uncertain. Complex segregation analysis was performed, by the POINTER and COMDS programs, with data from a geographically well-defined sample of 125 nuclear families of individuals affected by astigmatism. POINTER could not distinguish between alternative genetic models, and only the hypothesis of no familial transmission could be rejected. After inclusion of the severity parameter, COMDS results defined a genetic model for corneal astigmatism and provided evidence for single-major-locus inheritance. These results suggest that genetic linkage studies could be implemented and that they should be limited to multiplex families with severely affected individuals.
尽管散光作为一种常见的屈光不正，但它的遗传模式仍不明确。利用POINTER和COMDS程序，对来自125个散光患者核心家庭的地理界定清晰的样本数据进行了复杂分离分析。POINTER无法区分不同的遗传模型，仅“无家族遗传”这一假设可被排除。纳入严重程度参数后，COMDS的结果确定了角膜散光的遗传模型，并为单主基因座遗传提供了证据。这些结果表明可以开展基因连锁研究，且应限于有严重散光患者的多个受累家庭。
