Two anonymous DNA segments distinguish the Wilms' tumor and aniridia loci.
Two anonymous DNA segments distinguish the Wilms' tumor and aniridia loci.
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两个匿名 DNA 片段区分了肾母细胞瘤和无虹膜基因座。
DOI：
10.1126/science.2841760
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发表时间：
1988
期刊：
影响因子：
--
通讯作者：
Shows,TB
中科院分区：
文献类型：
--
作者：
Davis,LM;Stallard,R;Thomas,GH;Couillin,P;Junien,C;Nowak,NJ;Shows,TB
维尔姆斯氏瘤与 11p13 染色体异常儿童中的无虹膜 (WAGR 复合体) 之间的关联已经确定，但 11p13 中分子探针的缺乏阻碍了相关基因的鉴定。已鉴定出两个新的匿名 DNA 片段，它们映射到 11p13 的 WAGR 区域。两种 DNA 探针都鉴定出细胞学上无法检测到的缺失，该缺失与家族性无虹膜患者遗传的平衡染色体易位相关，但与肾母细胞瘤患者无关。同样的两个 DNA 片段也包含在另一名患有无虹膜、肾母细胞瘤和性腺功能减退症患者的远端 p13-p14.1 缺失中，但它们不包含在第三名患者的 p12-p13 缺失中，该患者没有无虹膜，但患有肾母细胞瘤。这种无虹膜缺失以及物理上分开维尔姆斯肿瘤和无虹膜基因座的这两个DNA片段的发现应该有助于从无虹膜基因开始鉴定WAGR基因座中的基因。
The association of Wilms' tumor with aniridia (theWAGRcomplex) in children with 11p13 chromosomal abnormalities has been established, but the paucity of molecular probes in 11p13 has hampered identification of the responsible genes. Two new anonymous DNA segments have been identified that map to theWAGRregion of 11p13. Both DNA probes identify a cytologically undetectable deletion associated with a balanced chromosome translocation inherited by a patient with familial aniridia, but not Wilms' tumor. The same two DNA segments are also included in the distal p13-p14.1 deletion of another patient, who has aniridia, Wilms' tumor, and hypogonadism, but they are not included in the p12-p13 deletion of a third patient, who does not have aniridia but has had a Wilms' tumor. The discovery of this aniridia deletion and these two DNA segments that physically separate the Wilms' tumor and aniridia loci should facilitate identification of the genes in theWAGRlocus, beginning with the aniridia gene.