红细胞生成性原卟啉病遗传方式研究  

Discussion of genetic aspects in erythropoietic protoporphria

作　　者：吴怀安[1] 王春[1] 赵斌[1] 陈惠兰[1] 任波[1] 祝逸民 曾宪昌[2] 陈卫国[2] 雷道雄[2] 冯哲辉 

机构地区：[1]湖北医学院生物学教研室 [2]湖北医学院附二医院 [3]美国俄亥俄医学院

出　　处：《湖北医学院学报》1990年第4期314-316,共3页

摘　　要：本文报告湖北西部一个红细胞生成性原卟啉病家系,共5例患者,男性3例,女性2例。在特定条件下,患者及其双亲之一的血液中可见荧光红细胞。且原卟啉含量高。通过该家系患者及亲属的调研,我们确认在该家系中红细胞生成性原卟啉病的遗传方式为常染色体隐性遗传。This paper has reported a family with erythroprietic protoporphyria.There are total 5 patients,3 males and 2 females,in the family,It was obsered that the presence of an occasional fluorescent red blood cell was related with high protoporphyrin levels in the patients arid one of their parents.This study of the family led to the conclusion that the diseae of erythropoietic protoporphyria is inherited as an autosomal recessive disorder.

关 键 词：贵传性疾病 EPP 卟啉病 染色体病 

分 类 号：R596.1[医药卫生—内科学]