共 50 条
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
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
相关论文
共 50 条