Aniridia, Wilms' tumor and human chromosome 11.
Aniridia-a developmental abnormality of the eye in which the iris is apparently absent-has been shown to be genetically associated with Wilms' tumor (an embryonic nephroblastoma) in the WAGR syndrome. Genetic and cytogenetic evidence points to band p13 of human chromosome 11 as the localization of the genes responsible for these defects. Deleted chromosomes 11 from WAGR patients and clinically associated translocations involving 11p13 have been used to map and order genes and anonymous DNA markers around the WAGR locus refining the localization of the aniridia and Wilms' tumor genes to within about 1 million base pairs of DNA.
Bickmore
W A
WA
M.R.C. Clinical and Population Cytogenetics Unit, Western General Hospital, Edinburgh, Scotland, UK.
Hastie
N D
ND
D000818:Animals; D015783:Aniridia / Q000235:genetics*; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D003582:Cytogenetics; D004273:DNA, Neoplasm / Q000235:genetics / Q000302:isolation & purification; D005819:Genetic Markers; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics*; D009154:Mutation; D014178:Translocation, Genetic; D009396:Wilms Tumor / Q000235:genetics*
D004273:DNA, Neoplasm; D005819:Genetic Markers