Human Genetics

, 119:463 | Cite as

Structure and function of glucose-6-phosphate dehydrogenase-deficient variants in Chinese population

  • Weiying Jiang
  • Guolong Yu
  • Peng Liu
  • Qian Geng
  • Luming Chen
  • Qundi Lin
  • Xiaoqin Ren
  • Wenhong Ye
  • Yongshu He
  • Yibin Guo
  • Shan Duan
  • Jing Wen
  • Haiyuan Li
  • Yan Qi
  • Chengrui Jiang
  • Yongmei Zheng
  • Chun Liu
  • En Si
  • Qin Zhang
  • Qiuhong Tian
  • Chuanshu Du
Original Investigation
First Online:
Received:
Accepted:

Abstract

A systematic study on the structure and function of Glucose-6-phosphate dehydrogenase (G6PD) variations was carried out in China. A total of 155,879 participants were screened for G6PD deficiency by the G6PD/6PGD ratio method and 6,683 cases have been found. The prevalence of G6PD deficiency ranged from 0 to 17.4%. With informed consent, 1,004 cases from 11 ethnic-based groups were subjected to molecular analysis. Our results showed the followings: (1) The G6PD variants are consistent across traditional ethnic boundaries, but vary in frequencies across ethnic-based groups in Chinese population, (2) The G6PD variants in Chinese population are different from those in African, European, and Indian populations, (3) A novel G6PD-deficiency mutation, 274C→T, has been found, and (4) Denaturing high performance liquid chromatography is of great advantage to detecting G6PD-deficient mutations for diagnosis and genetic counseling. Moreover, functional analysis of the human G6PD variants showed the following: (1) The charge property, polarity, pK-radical and side-chain radical of the substituting amino acid have an effect on G6PD activity, (2) The G6PDArg459 and Arg463 play important roles in anchoring NADP+ to the catalytic domain to maintain the enzymatic activity, and (3) The sequence from codon 459 to the carboxyl terminal is essential for the enzymatic function.

Keywords

Glucose-6-phosphate dehydrogenase Site-directed mutagenesis Ethnic Variants Denaturing high performance liquid chromatography Enzymes deficiency 
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Notes

Acknowledgments

The mutated G6PD by site-directed mutagenesis was a kind gift from Professor Chongyi Zhao, who worked in Furen University, Taiwan. Many thanks to Professor Huishang Au for her guiding while at the Kunming University of Science Technology, China. The project is supported by Chinese National Natural Scientific Grants #30440005 and #30470949, China; Scientific Technology Grant of Guangdong province: #2004B3370107, China.

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Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Weiying Jiang
    • 1
  • Guolong Yu
    • 1
  • Peng Liu
    • 1
  • Qian Geng
    • 1
  • Luming Chen
    • 1
  • Qundi Lin
    • 1
  • Xiaoqin Ren
    • 1
  • Wenhong Ye
    • 1
  • Yongshu He
    • 2
  • Yibin Guo
    • 1
  • Shan Duan
    • 1
  • Jing Wen
    • 1
  • Haiyuan Li
    • 1
  • Yan Qi
    • 1
  • Chengrui Jiang
    • 3
  • Yongmei Zheng
    • 4
  • Chun Liu
    • 5
  • En Si
    • 6
  • Qin Zhang
    • 4
  • Qiuhong Tian
    • 1
  • Chuanshu Du
    • 1
  1. 1.Department of Medical Genetics, Medical SchoolSun Yat-sen UniversityGuangzhouChina
  2. 2.Kunming Medical CollegeYunanChina
  3. 3.The Affiliated High School of Yunnan Normal UniversityYunan ProvinceChina
  4. 4.Lianshan People’s HospitalGuangdong ProvinceChina
  5. 5.Dehong State People’s HospitalYunnan ProvinceChina
  6. 6.Yingjiang People’s HospitalYunnan ProvinceChina

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