Basic & Clinical Medicine ›› 2008, Vol. 28 ›› Issue (8): 878-879.

• 研究短文 • Previous Articles     Next Articles

Clinical study on G6PD gene mutations of children in GanZhou area

Tao SONG, Xiao-ling ZHANG, Fan LI, Yin-qiang ZHENG, Jun-kun CHEN, Yue-mei LIU   

  1. Gannan Medical College
  • Received:2008-01-16 Revised:2008-03-09 Online:2008-08-25 Published:2008-08-25
  • Contact: Tao SONG,

Abstract: Abstract:Objective:To investigate mutations in the Glucose-6-phospate dehydrogelmse(G6PD)gene among G6PD-deficient children in GanZhou and make benefits for the prevention and treatment of G6PD deficiency.Methods:The amplification refractory mutation system (ARMS)was used to detect gene point mutation in seventy two G6PD-deficient patients that had been diagnosed by using metahemoglobin return to original state experiment.Results:Of the forty G6PD deficiency sample,28 cases was found carrying the G1388A mutation.10 the G1376T mutation and 3 the A95G mutation for 38.9%,13.9% and 4.7% ,respectively.The other 31 cases were not detected carrying the three mutations.All these genotypes probably resulted in severe G6PD activity deficiency and had severe clinical manifestation. Conclusion:G1388A,G1376T,and A95G were the common mutations in G6PD-deficient individuals in GanZhou.

Key words: Key words:G6PD, Gene mutation, Children