ANIRIDIA-WILMS TUMOR ASSOCIATION - EVIDENCE FOR SPECIFIC DELETION OF 11P13
ANIRIDIA-WILMS TUMOR ASSOCIATION - EVIDENCE FOR SPECIFIC DELETION OF 11P13
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DOI：
10.1159/000131375
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发表时间：
1979-01-01
期刊：
影响因子：
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通讯作者：
RICCARDI, VM
中科院分区：
文献类型：
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作者：
FRANCKE, U;HOLMES, LB;RICCARDI, VM
一名患有无虹膜、Wilms肿瘤和智力迟钝的7岁男孩，先前报道为具有由t（8 p +; 11 q-）易位引起的8号染色体短臂的间质缺失（Ladda等人，1974），重新研究使用高分辨率胰蛋白酶Giemsa显带的前中期染色体。结果揭示了在8 p、11 p和11 q中具有4个断裂点的复杂重排，导致11 p的间质片段（区域p1407 →）的净损失。p1304），但不是8 p。红细胞含有正常活性的谷胱甘肽还原酶（8 p上的基因）和乳酸脱氢酶A（11 p12上的基因），表明基因剂量与染色体结果一致。该病例的修订解释与其他7例报告的无虹膜和间质性11 p缺失一致，确定了11 p13带的远侧半部分为导致无虹膜的基因位点，如果以半合子状态存在，则易患Wilms肿瘤。杂合性缺失的特定染色体带11 p13和13 q14和常染色体显性遗传疾病无虹膜，Wilms肿瘤和视网膜母细胞瘤，分别进行了讨论。
A 7 yr old boy with aniridia, Wilms'' tumor and mental retardation, previously reported as having an interstitial deletion of the short arm of chromosome 8 resulting from a t(8p+; 11q-) translocation (Ladda et al., 1974), was restudied using high-resolution trypsin-Giemsa banding of prometaphase chromosomes. The results revealed a complex rearrangement with 4 break points in 8p, 11p and 11q, leading to a net loss of an interstitial segment of 11p (region p1407 .fwdarw. p1304) but not of 8p. Red blood cells contained normal activities of glutathione reductase (gene on 8p) and lactate dehydrogenase A (gene on 11p12), indicating a gene dosage consistent with the chromosomal findings. The revised interpretation of this case agrees with 7 others reported as having aniridia and interstitial 11p deletions in establishing the distal half of band 11p13 as the site of gene(s) which lead to aniridia and predispose to Wilms'' tumor if present in a hemizygous state. Possible relationships between heterozygous deletion of specific chromosomal bands 11p13 and 13q14 and the autosomal dominant disorders aniridia, Wilms'' tumor and retinoblastoma, respectively, are discussed.