Literature DB >> 23275194

Glucose-6-phosphate dehydrogenase (G6PD) gene mutations detection by improved high-resolution DNA melting assay.

Meichen Pan1, Min Lin, Lin Yang, Jiaoren Wu, Xiaofen Zhan, Ying Zhao, Yingfang Wen, Guirong Liu, Liye Yang, Yingmu Cai.   

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common inherited disorder worldwide including southern China. G6PD gene mutations cause deficiency of the enzyme and a large spectrum of diseases. High-resolution DNA melting (HRM) assay was recently introduced as a rapid, inexpensive and effective method for genotyping. But there was a shortcoming of this method that hemizygous and homozygous genotypes were not easily distinguished from wild-types. Here we used improved HRM method for a small-scale screening of G6PD-deficient variants among people of Meizhou region. Then all amplicons were ascertained by direct DNA sequencing. These results indicated that HRM method was a major technical advance for G6PD mutations screening.

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Year:  2012        PMID： 23275194     DOI： 10.1007/s11033-012-2381-6

Source DB:  PubMed          Journal:  Mol Biol Rep        ISSN： 0301-4851            Impact factor:   2.316


  22 in total

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3.  Rapid and reliable detection of glucose-6-phosphate dehydrogenase (G6PD) gene mutations in Han Chinese using high-resolution melting analysis.

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4.  Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia.

Authors:  K Iwai; A Hirono; H Matsuoka; F Kawamoto; T Horie; K Lin; I S Tantular; Y P Dachlan; H Notopuro; N I Hidayah; A M Salim; H Fujii; S Miwa; A Ishii
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5.  Diverse point mutations result in glucose-6-phosphate dehydrogenase (G6PD) polymorphism in Taiwan.

Authors:  T K Tang; C S Huang; M J Huang; K B Tam; C H Yeh; C J Tang
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6.  Detection of the JAK2 V617F missense mutation by high resolution melting analysis and its validation.

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Journal:  Clin Chim Acta       Date:  2009-07-10       Impact factor: 3.786

7.  Characterization of glucose-6-phosphate dehydrogenase deficiency and identification of a novel haplotype 487G>A/IVS5-612(G>C) in the Achang population of Southwestern China.

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Review 8.  G6PD deficiency: the genotype-phenotype association.

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2.  A multiplex method for detection of glucose-6-phosphate dehydrogenase (G6PD) gene mutations.

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5.  Rapid identification of apolipoprotein E genotypes by high-resolution melting analysis in Chinese Han and African Fang populations.

Authors:  Xiu-Hui Zhan; Guang-Cai Zha; Ji-Wei Jiao; Li-Ye Yang; Xiao-Fen Zhan; Jiang-Tao Chen; Dong-DE Xie; Urbano Monsuy Eyi; Rocio Apicante Matesa; Maximo Miko Ondo Obono; Carlos Sala Ehapo; Er-Jia Wei; Yu-Zhong Zheng; Hui Yang; Min Lin
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6.  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.

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7.  Glucose-6-phosphate dehydrogenase mutations in malaria endemic area of Thailand by multiplexed high-resolution melting curve analysis.

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8.  Co-inheritance of G6PD deficiency and 211 G to a variation of UGT1A1 in neonates with hyperbilirubinemia in eastern Guangdong.

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9.  G6PD Deficiency and Hemoglobinopathies: Molecular Epidemiological Characteristics and Healthy Effects on Malaria Endemic Bioko Island, Equatorial Guinea.

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Journal:  PLoS One       Date:  2015-04-27       Impact factor: 3.240

10.  Epidemiology, evolutionary origin, and malaria-induced positive selection effects of G6PD-deficient alleles in Chinese populations.

Authors:  Yuzhong Zheng; Junli Wang; Xueyan Liang; Huiying Huang; Yanbo Ma; Liyun Lin; Chunfang Wang; Xiaofen Zhan; Liye Yang; Guangcai Zha; Peikui Yang; Xianghui Zou; Zikai Chen; Xinyao Chen; Weizhong Chen; Xiangzhi Liu; Min Lin
Journal:  Mol Genet Genomic Med       Date:  2020-10-31       Impact factor: 2.183
  10 in total

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