Zanella Alberto, Bianchi Paola, Fermo Elisa, Valentini Giovanna
Department of Haematology, Fondazione IRCCS Ospedale Maggiore, Mangiagalli i Regina Elena, Via F. Sforza 35, 20122 Milan, Italy.
Br J Haematol. 2006 Apr;133(2):113-23. doi: 10.1111/j.1365-2141.2006.05992.x.
Hereditary pyrimidine 5'-nucleotidase (P5'N) deficiency is the most frequent abnormality of the red cell nucleotide metabolism causing hereditary non-spherocytic haemolytic anaemia. The disorder is usually characterised by mild-to-moderate haemolytic anaemia associated with the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. The precise mechanisms leading to the destruction of P5'N deficient red cells are still unclear. The pyrimidine 5'-nucleotidase type-I (P5'N-1) gene is localised on 7p15-p14 and the cDNA has been cloned and sequenced; 20 mutations have been identified so far in 30 unrelated families, most of them at the homozygous level. Recently, the comparison of recombinant mutants of human P5'N-1 with the wild-type enzyme has enabled the effects of amino acid replacements on the enzyme molecular properties to be determined and help to correlate genotype to clinical phenotype.
遗传性嘧啶5'-核苷酸酶（P5'N）缺乏症是红细胞核苷酸代谢最常见的异常情况，可导致遗传性非球形细胞溶血性贫血。该病症通常表现为轻度至中度溶血性贫血，并伴有红细胞内高浓度嘧啶核苷酸的积累。导致P5'N缺乏的红细胞破坏的确切机制仍不清楚。I型嘧啶5'-核苷酸酶（P5'N-1）基因定位于7p15-p14，其cDNA已被克隆和测序；迄今为止，在30个无亲缘关系的家族中已鉴定出20种突变，其中大多数为纯合子水平。最近，将人P5'N-1的重组突变体与野生型酶进行比较，已能够确定氨基酸替代对酶分子特性的影响，并有助于将基因型与临床表型相关联。
