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STARD-rapid screening for the 6 most common G6PD gene mutations in the Chinese population using the amplification refractory mutation system combined with melting curve analysis.

Abstract Dot-blot hybridization and high-resolution melting curve methods are used to detect G6PD gene mutations; however, the performance and throughput limitations of these methods hinder their use for screening large populations. For simple screening, we developed a novel approach called "Amplification Refractory Mutation System combined with Melting Curve Analysis (ARMS-MC)," which enables rapid and batch-based detection of the 6 most common G6PD mutations.In this method, we established 4 PCR reaction systems that can be used to detect the 6 most common G6PD mutations (c.95A>G, c.392G>T, c.871G>A, c.1024C>T, c.1376G>T, and c.1388G>A) in the Chinese population.The ARMS-MC method was evaluated with 174 cases of clinical G6PD-deficient samples, and the results were verified by direct sequencing at G6PD gene exons. The results showed that 170 samples had ≥1 of the 6 mutations, which accounted for 97.70% of all mutations. These results were consistent with the results of direct sequencing with 100% accuracy and specificity. Sequencing validation revealed other mutations in the 4 samples in which no mutation was detected by the ARMS-MC method.ARMS-MC provides a rapid, simple, inexpensive, and accurate screening method for detecting the most common G6PD mutations in Chinese people.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title medicine
Publication Year Start




PMID- 29702993
OWN - NLM
STAT- MEDLINE
DCOM- 20180514
LR  - 20180516
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 97
IP  - 17
DP  - 2018 Apr
TI  - STARD-rapid screening for the 6 most common G6PD gene mutations in the Chinese
      population using the amplification refractory mutation system combined with
      melting curve analysis.
PG  - e0426
LID - 10.1097/MD.0000000000010426 [doi]
AB  - Dot-blot hybridization and high-resolution melting curve methods are used to
      detect G6PD gene mutations; however, the performance and throughput limitations
      of these methods hinder their use for screening large populations. For simple
      screening, we developed a novel approach called "Amplification Refractory
      Mutation System combined with Melting Curve Analysis (ARMS-MC)," which enables
      rapid and batch-based detection of the 6 most common G6PD mutations.In this
      method, we established 4 PCR reaction systems that can be used to detect the 6
      most common G6PD mutations (c.95A>G, c.392G>T, c.871G>A, c.1024C>T, c.1376G>T,
      and c.1388G>A) in the Chinese population.The ARMS-MC method was evaluated with
      174 cases of clinical G6PD-deficient samples, and the results were verified by
      direct sequencing at G6PD gene exons. The results showed that 170 samples had
      >/=1 of the 6 mutations, which accounted for 97.70% of all mutations. These
      results were consistent with the results of direct sequencing with 100% accuracy 
      and specificity. Sequencing validation revealed other mutations in the 4 samples 
      in which no mutation was detected by the ARMS-MC method.ARMS-MC provides a rapid,
      simple, inexpensive, and accurate screening method for detecting the most common 
      G6PD mutations in Chinese people.
FAU - Fan, Zuqian
AU  - Fan Z
AD  - Department of Clinical Laboratory, Qinzhou Maternal and Child Health Hospital.
FAU - Weng, Xunjin
AU  - Weng X
AD  - Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases,
      Qinzhou.
FAU - Huang, Guosheng
AU  - Huang G
AD  - Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases,
      Qinzhou.
FAU - Pan, Zhijian
AU  - Pan Z
AD  - Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases,
      Qinzhou.
FAU - Long, Zhao
AU  - Long Z
AD  - Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases,
      Qinzhou.
FAU - Fan, Qiongying
AU  - Fan Q
AD  - Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases,
      Qinzhou.
AD  - Laboratory of Medical Genetics, Qinzhou Maternal and Child Health Hospital,
      Guangxi, PR China.
FAU - Tang, Weijun
AU  - Tang W
AD  - Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases,
      Qinzhou.
FAU - Fang, Lin
AU  - Fang L
AD  - Department of Clinical Laboratory, Qinzhou Maternal and Child Health Hospital.
FAU - Long, Ju
AU  - Long J
AD  - Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases,
      Qinzhou.
AD  - Laboratory of Medical Genetics, Qinzhou Maternal and Child Health Hospital,
      Guangxi, PR China.
FAU - Hu, Tian
AU  - Hu T
AD  - Department of Clinical Laboratory, Qinzhou Maternal and Child Health Hospital.
FAU - Huang, Yongxia
AU  - Huang Y
AD  - Department of Clinical Laboratory, Qinzhou Maternal and Child Health Hospital.
FAU - Sun, Lei
AU  - Sun L
AD  - Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases,
      Qinzhou.
AD  - Laboratory of Medical Genetics, Qinzhou Maternal and Child Health Hospital,
      Guangxi, PR China.
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - EC 1.1.1.49 (Glucosephosphate Dehydrogenase)
SB  - AIM
SB  - IM
MH  - Asian Continental Ancestry Group
MH  - Female
MH  - Glucosephosphate Dehydrogenase/*genetics
MH  - Glucosephosphate Dehydrogenase Deficiency/*genetics
MH  - Humans
MH  - Male
MH  - Polymerase Chain Reaction/*methods
MH  - Polymorphism, Single Nucleotide
PMC - PMC5944484
EDAT- 2018/04/29 06:00
MHDA- 2018/05/15 06:00
CRDT- 2018/04/29 06:00
PHST- 2018/04/29 06:00 [entrez]
PHST- 2018/04/29 06:00 [pubmed]
PHST- 2018/05/15 06:00 [medline]
AID - 10.1097/MD.0000000000010426 [doi]
AID - 00005792-201804270-00025 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2018 Apr;97(17):e0426. doi: 10.1097/MD.0000000000010426.