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

共 50 条

[21] Prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in southeast Iran: implications for malaria elimination [J].

Tabatabaei, Seyed Mehdi ;

Khorashad, Alireza Salimi ;

Sakeni, Mohammad ;

Raeisi, Ahmad ;

Metanat, Zahra .

JOURNAL OF INFECTION IN DEVELOPING COUNTRIES, 2015, 9 (03) :289-297

[22] Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population [J].

Malik, Shaza ;

Zaied, Roan ;

Syed, Najeeb ;

Jithesh, Puthen ;

Al-Shafai, Mashael .

HUMAN GENOMICS, 2021, 15 (01)

[23] Role of Glucose 6 Phosphate Dehydrogenase (G6PD) in the Pathophysiology of Cataract [J].

Katta, Ashok V. ;

Geetha, H. ;

Katkam, R. V. .

BIOMEDICAL RESEARCH-INDIA, 2013, 24 (01) :146-149

[24] A Population Survey of the Glucose-6-Phosphate Dehydrogenase (G6PD) 563C. T (Mediterranean) Mutation in Afghanistan [J].

Jamornthanyawat, Natsuda ;

Awab, Ghulam R. ;

Tanomsing, Naowarat ;

Pukrittayakamee, Sasithon ;

Yamin, Fazel ;

Dondorp, Arjen M. ;

Day, Nicholas P. J. ;

White, Nicholas J. ;

Woodrow, Charles J. ;

Imwong, Mallika .

PLOS ONE, 2014, 9 (02)

[25] Identification of a case of glucose-6-phosphate dehydrogenase deficiency with G6PD mediterranean-middle east subtype in China [J].

Liu, W. -L. ;

Li, Fang ;

He, Z. -X. ;

Jiang, H. -Y. ;

Ai, R. .

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 2013, 35 (05) :E1-E3

[26] Chronic nonspherocytic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency: report of two families with novel mutations causing G6PD Bangkok and G6PD Bangkok Noi [J].

Tanphaichitr, Voravarn S. ;

Hirono, Akira ;

Pung-amritt, Parichat ;

Treesucon, Ajjima ;

Wanachiwanawin, Wanchai .

ANNALS OF HEMATOLOGY, 2011, 90 (07) :769-775

[27] Glucose-6-phosphate dehydrogenase (G6PD)-deficient infants: Enzyme activity and gene variants as risk factors for phototherapy in the first week of life [J].

Wong, Fei-Liang ;

Ithnin, Azlin ;

Othman, Ainoon ;

Cheah, Fook-Choe .

JOURNAL OF PAEDIATRICS AND CHILD HEALTH, 2017, 53 (07) :705-710

[28] Three new mutations account for the prevalence of glucose 6 phosphate deshydrogenase (G6PD) deficiency in Tunisia [J].

Bendaoud, B. ;

Hosni, I. ;

Mosbahi, I. ;

Hafsia, R. ;

Prehu, C. ;

Abbes, S. .

PATHOLOGIE BIOLOGIE, 2013, 61 (02) :64-69

[29] Effect of neonatal reticulocytosis on glucose 6-phosphate dehydrogenase (G6PD) activity and G6PD deficiency detection: a cross-sectional study [J].

Pimpakan, Thanaporn ;

Mungkalasut, Punchalee ;

Tansakul, Pornchinee ;

Chanda, Makamas ;

Jugnam-Ang, Watcharapong ;

Charucharana, Supamas ;

Cheepsunthorn, Poonlarp ;

Fucharoen, Suthat ;

Punnahitananda, Santi ;

Cheepsunthorn, Chalisa Louicharoen .

BMC PEDIATRICS, 2022, 22 (01)

[30] DETECTION　OF　POINT　MUTATIONS　IN　EXON　2　OF　THE　G6PD　GENE　IN　CHINESE　G6PD　VARIANT [J].

许卫明，王菁，华小云，杜传书 .

Chinese Medical Sciences Journal, 1994, (01)

← 1 2 3 4 5 →