XÁC ĐỊNH NHANH ĐỘT BIẾN ĐIỂM HAY GẶP Ở BỆNH NHÂN THIẾU HỤT G6PD BẰNG PHƯƠNG PHÁP ARMS (AMPLIFICATION REFRACTORY MUTATION SYSTEM)

Abstract

G6PD deficiency is the most common human enzymopathy.
Nowadays, more than 140 mutations have been discoveried all over the world, most of
which are point mutations. The two most common mutations, Canton and Kaiping are
detected in Vietnam. To detect these mutations not only rapidly but also accurately,
reliablely, inexpensive, we applied ARMS method in this study. Samples from 31 boy
newborns diagnosed G6PD deficiency by G6PD quatitative method were collected. The
results show that: 3 cases were found carrying Kaiping (G1388A) mutation and 4 cases
were found carrying Canton (G1376T) mutation. These 7 cases then were judged by
direct PCR sequencing at exon 12. The sequencing data supported the results obtained
by ARMS. Thus we concluded that ARMS is a simple, rapid, inexpensive, accurate and
reliable method for detecting Canton and Kaiping mutation.