Cloning of breakpoints of a chromosome translocation identifies the AN2 locus

M Gessler, K. Simola, G. Bruns
1989 Science  
Chromosome translocations involving llpl3 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 (Wilros 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
more » ... 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.
doi:10.1126/science.2544995 pmid:2544995 fatcat:5d3mtacnnfc6nn6qy4ksvkwfli