Junien C, Turleau C, Lenoir G M, Philip T, Said R, Despoisse S, Laurent C, Rethoré M O, Kaplan J C, de Grouchy J
Cancer Genet Cytogenet. 1983 Sep;10(1):51-7. doi: 10.1016/0165-4608(83)90105-x.
We have previously mapped the gene coding for catalase to 11p13 by gene dosage analysis. Deletion of this chromosomal region causes aniridia, mental retardation, and predisposition to Wilms' tumor (WT). In the present study, 22 patients with various etiologic forms of WT and/or aniridia were investigated. The catalase (CAT) level and karyotype were examined in order to determine the linkage and the gene ordering on chromosome number 11 of the different loci involved. The CAT concentration was normal in the 19 cases without detectable chromosomal abnormalities.
我们之前通过基因剂量分析将编码过氧化氢酶的基因定位到了11p13。该染色体区域的缺失会导致无虹膜、智力发育迟缓以及患威尔姆斯瘤（WT）的倾向。在本研究中，我们调查了22例患有各种病因形式的WT和/或无虹膜的患者。检测了过氧化氢酶（CAT）水平和核型，以确定11号染色体上不同相关位点的连锁关系和基因排序。19例未检测到染色体异常的病例中，CAT浓度正常。
