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

页码：3073 / 3082

页数：10

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