嘧啶5'-核苷酸酶缺乏症：携带者检测的改进

Pyrimidine 5'-nucleotidase deficiency: improved detection of carriers.

作者信息

de Korte D, Sijstermans J M, Seip M, van Doorn C C, van Gennip A H, Roos D

机构信息

Central Laboratory of the Netherlands Red Cross Blood Transfusion Service, Amsterdam.

出版信息

Clin Chim Acta. 1989 Sep 29;184(2):175-80. doi: 10.1016/0009-8981(89)90287-8.

DOI:10.1016/0009-8981(89)90287-8

PMID:2557985

Abstract

The activities of pyrimidine 5'-nucleotidase (P5N) and the nucleotide pools in the erythrocytes from 19 members of a Dutch family with P5N deficiency were measured. In the erythrocytes of 5 (out of 6) apparent heterozygotes (based on P5N activities), an increased amount of UDP-N-acetylhexosamines was found. This increase was also found in the erythrocytes of 2 (out of 3) questionable heterozygotes (P5N activity below normal range, but not below normal mean--2 X SD) and not in the erythrocytes of family members with a normal P5N activity nor in erythrocytes from healthy donors. We conclude that analysis of the ribonucleotide patterns, in combination with determination of P5N activity, allows a more accurate diagnosis of heterozygosity for P5N.

摘要

对一个患有嘧啶5'-核苷酸酶（P5N）缺乏症的荷兰家族的19名成员的红细胞中的嘧啶5'-核苷酸酶（P5N）活性和核苷酸池进行了测量。在6名明显杂合子（基于P5N活性）中的5名的红细胞中，发现UDP-N-乙酰己糖胺的量增加。在3名可疑杂合子（P5N活性低于正常范围，但不低于正常平均值-2×标准差）中的2名的红细胞中也发现了这种增加，而在P5N活性正常的家族成员的红细胞中以及健康供体的红细胞中未发现这种增加。我们得出结论，结合P5N活性的测定对核糖核苷酸模式进行分析，可以更准确地诊断P5N杂合性。