Churchill A J, Booth A P, Anwar R, Markham A F
Department of Molecular Medicine and Ophthalmology, St James's University Hospital, Leeds, UK.
Eye (Lond). 1998;12 ( Pt 2):299-303. doi: 10.1038/eye.1998.69.
Mutations in the PAX 6 gene are known to cause many cases of inherited and sporadic aniridia. Although embryologically similar to aniridia, the cause of Peters' anomaly has received far less attention. Two reports have been published demonstrating mutations in the PAX 6 gene in Peters' anomaly. We have analysed the PAX 6 gene in 15 individuals with Peters' anomaly (7 familial, 8 sporadic). This is the largest cohort of Peters' anomaly described. The PAX 6 gene was screened using a combination of single-strand conformational polymorphism gel electrophoresis and direct sequencing. No mutations were found in the coding region of the PAX 6 gene. We feel that Peters' anomaly is a heterogeneous condition and that for the majority of cases PAX 6 is not the 'Peters' anomaly gene'.
已知PAX 6基因突变会导致许多遗传性和散发性无虹膜病例。尽管彼得斯异常在胚胎学上与无虹膜相似，但其病因受到的关注要少得多。已有两篇报道表明彼得斯异常中存在PAX 6基因突变。我们分析了15例彼得斯异常患者（7例家族性、8例散发性）的PAX 6基因。这是所描述的最大一组彼得斯异常病例。采用单链构象多态性凝胶电泳和直接测序相结合的方法对PAX 6基因进行筛选。在PAX 6基因的编码区未发现突变。我们认为彼得斯异常是一种异质性疾病，对于大多数病例来说，PAX 6不是“彼得斯异常基因”。
