中国人民解放军军医大学学报
中國人民解放軍軍醫大學學報
중국인민해방군군의대학학보
JOURNAL OF MEDICAL COLLEGES OF PLA
2003年
1期
23-26
,共4页
潘竹林%李津婴%闵碧荷%黄正霞%王健民%许燕群%龚胜兰%章卫平%张娴
潘竹林%李津嬰%閔碧荷%黃正霞%王健民%許燕群%龔勝蘭%章衛平%張嫻
반죽림%리진영%민벽하%황정하%왕건민%허연군%공성란%장위평%장한
erythrocyte%pyrimidine 5′-nucleotidase%ELISA%stippling cell
Objective: To further explore the mechanism of congenital pyrimidine 5′-nucleotidase Ⅰ deficiency.Methods: The samples were collected from the family members of a patient with P5′N-Ⅰ deficiency.The enzyme activities were measured by UMP method and the enzyme proteins were quantified by ELISA while the morphology of peripheral blood cells was observed.Results: The enzyme contents reduced as their enzyme activities decreased in the family especially in four members.There was a significant positive correlation(r=0.955)between the activity and the content of P 5′N-Ⅰ.The count of the stippling cell was varied in the family.Conclusion: One of the reasons for congenital P5′N-Ⅰ deficiency might be the deficiency in the enzyme content.The morphology of peripheral blood erythrocyte may be an assistant diagnotic index.The P5′N-Ⅰ activities and contents were measured simultaneously may be a effective method in clinic diagnosis.
