Molecular analysis of chromosome 11 deletions in aniridia-Wilms tumor syndrome.

Abstract:

:We describe five individuals who have constitutional deletions of the short arm of one chromosome 11, including all or part of the band p13. All of these individuals suffer from aniridia; two have had a Wilms tumor removed. We have established lymphoblastoid cell lines from these and in three cases constructed somatic cell hybrids containing the deleted chromosome 11. Analysis of DNA from the cell lines and hybrids with a cloned cDNA probe has shown that the catalase gene is deleted in four of five patients. The catalase locus must be proximal to the Wilms and aniridia-related loci. We have not detected a deletion of the beta-globin or calcitonin genes in any of these individuals; we conclude these genes are likely to be outside the region 11p12-11p15.4. In addition, we have used monoclonal antibodies in fluorescence-activated cell sorting analysis to measure expression in the hybrids of two cell surface markers encoded by genes that map to the short arm of chromosome 11. The genes for both of these are deleted in two individuals but are present in the individual with the smallest deletion.

authors

van Heyningen V,Boyd PA,Seawright A,Fletcher JM,Fantes JA,Buckton KE,Spowart G,Porteous DJ,Hill RE,Newton MS

doi

10.1073/pnas.82.24.8592

subject

Has Abstract,Author List Incomplete

pub_date

1985-12-01 00:00:00

pages

8592-6

issue

24

eissn

0027-8424

issn

1091-6490

journal_volume

82

pub_type

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