Cloning of breakpoints of a chromosome translocation identifies the AN2 locus.
Cloning of breakpoints of a chromosome translocation identifies the AN2 locus.
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DOI：
10.1126/science.2544995
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发表时间：
1989-06
期刊：
影响因子：
56.9
通讯作者：
M. Gessler;K. Simola;G. Bruns
中科院分区：
文献类型：
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作者：
M. Gessler;K. Simola;G. Bruns
涉及11p13的染色体易位与两个家族性无虹膜相关，突出了AN2基因座的染色体定位。该基因座也是WAGR复合体（肾母细胞瘤、无虹膜、泌尿生殖系统异常和精神发育迟滞）的一部分。在一个家系中，易位与缺失相关，并且该区域的探针用于鉴定和克隆第二个家系中易位的断点。在这种情况下，噬菌体限制性图谱的比较排除了任何相当大的缺失的存在。染色体11断裂点的序列在多个物种中是保守的，表明易位福尔斯落在AN 2基因内。
Chromosome translocations involving 11p13 have been associated with familial aniridia in two kindreds highlighting the chromosomal localization of the AN2 locus. This locus is also part of the WAGR complex (Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation). In one kindred, the translocation is associated with a deletion, and probes for this region were used to identify and clone the breakpoints of the translocation in the second kindred. Comparison of phage restriction maps exclude the presence of any sizable deletion in this case. Sequences at the chromosome 11 breakpoint are conserved in multiple species, suggesting that the translocation falls within the AN2 gene.