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

被引：28
作者：
Pan, Meichen [1 ]
Lin, Min [2 ]
Yang, Lin [3 ]
Wu, Jiaoren [2 ]
Zhan, Xiaofen [2 ]
Zhao, Ying [3 ]
Wen, Yingfang [4 ]
Liu, Guirong [4 ]
Yang, Liye [2 ]
Cai, Yingmu [1 ]
机构：
[1] Shantou Univ Med Coll, Affiliated Hosp 1, Med Lab, Shantou 515041, Guangdong, Peoples R China
[2] Southern Med Univ, Chaozhou Cent Hosp, Lab Med Ctr, Chaozhou 521021, Guangdong, Peoples R China
[3] Shantou Univ Med Coll, Shantou 515041, Guangdong, Peoples R China
[4] Meixian Peoples Hosp, Med Lab, Meizhou 514000, Guangdong, Peoples R China
来源：
MOLECULAR BIOLOGY REPORTS | 2013年 / 40卷 / 04期
基金：
美国国家科学基金会;
关键词：
Glucose-6-phosphate dehydrogenase (G6PD); Gene mutation; High-resolution melting (HRM) assay; DNA sequencing; DEFICIENCY; POLYMORPHISM; POPULATION; VARIANTS; TAIWAN;
D O I：
10.1007/s11033-012-2381-6
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
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.
引用
收藏
页码：3073 / 3082
页数：10
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