The human gene for xanthine dehydrogenase (XDH) is localized on chromosome band 2q22.

[]

Mutations in the xanthine dehydrogenase gene (XDH ), which codes for the last enzyme of the purine catabolic pathway in man , cause the autosomal recessive disease xanthinuria . We obtained cDNA clones from a human breast cDNA library and confirmed one of the two different sequences proposed for human XDH . Using a somatic cell hybrid mapping panel and specific primers for human XDH , we assigned the gene to chromosome 2 . By fluorescence in situ hybridization , the gene was localized to bands 2 p 22 .3 -->p 22 .2 . The FLpter probe location was 0 .135 (SD = 0 .016 ), as determined by digital image analysis .