一例患儿急性溶血期蚕豆病的基因诊断  

The analysis and diagnosis of a favism case in the acute haemolytic period

作　　者：林芬[1] 吴教仁[1] 杨辉[1] 林敏[1] 杨立业[1] 

机构地区：[1]南方医科大学附属潮州中心医院中心实验室,广东潮州521000

出　　处：《中国优生与遗传杂志》2015年第11期123-124,共2页Chinese Journal of Birth Health & Heredity

基　　金：广东省医学科学技术研究基金(A2014902;B2013444);潮州市社会发展计划项目(2014S08)

摘　　要：目的对一例急性溶血期的蚕豆病患儿作实验室鉴定及临床分析。方法抽取患儿及其父母的血标本进行G6PD活性测定,采用反向斑点杂交(RDB)技术鉴定G6PD基因突变类型。结果患儿及父母亲G6PD活性均正常,患儿为G6PD G1388A半合子,母亲为G6PD G1388A杂合子,父亲G6PD基因突变检测结果正常。结论临床怀疑蚕豆病而处于急性溶血期的患儿,与其父母同时进行G6PD基因检测有助于明确诊断,并推测其缺陷基因的遗传方式。Objective：To report the clinical and laboratory diagnosis of a child with G6 PD deficiency in his acute hemolytic period. Methods：Blood sample was collected for G6 PD enzyme activity assay in sick child and his parents. The reverse dot blot（RDB）was used to detect known point mutations causing G6 PD deficiency. Results：Both the patient and his parents were with normal G6 PD enzyme activity. Genetic analysis showed that the child was a hemizygote for G6 PD Kaiping（G1388A）gene mutation. And his mother was a heterozygote for 1388 mutation. NO mutation was detected in DNA from his father. Conclusion：Most favism patients maybe with a normal G6 PD enzyme activity test results during the acute hemolytic period. G6 PD genetic testing and pedigree analysis would help the clinical diagnosis of this disease.

关 键 词：蚕豆病 急性溶血期 G6PD活性检测 基因突变 

分 类 号：R725.5[医药卫生—儿科]