Cloning of Breakpoints of a Chromosome Translocation Identifies the an2 Locus

• Published in: Science (American Association for the Advancement of Science) Vol. 244; no. 4912; pp. 1575 - 1578
• Main Authors: Gessler, Manfred, Kalle O. J. Simola, Gail A. P. Bruns
• Format: Journal Article
• Language: English
• Published: United States The American Association for the Advancement of Science 30.06.1989; American Association for the Advancement of Science
• Subjects: Alleles; Analysis; Aniridia; Bacteriophages; Biochemistry; Biology; Chromosome Deletion; Chromosome Mapping; Chromosome translocation; Chromosomes; Chromosomes, Human, Pair 11; Chromosomes, Human, Pair 4; Cloning, Molecular; DNA; DNA Probes; DNA Restriction Enzymes; Enzymes; Eye Diseases - congenital; Eye Diseases - genetics; Genetic aspects; Genetic loci; Genetics; Humans; Intellectual disability; Intellectual Disability - genetics; Iris - abnormalities; Nucleic Acid Hybridization; Phenotype; Syndrome; Translocation (Genetics); Translocation, Genetic; Translocations (Genetics); Urogenital Abnormalities; Wilms Tumor - genetics
• ISSN: 0036-8075; 1095-9203
• DOI: 10.1126/science.2544995

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.