Skip to main content
SpringerLink
Log in

Characterization of glucose-6-phosphate dehydrogenase deficiency and identification of a novel haplotype 487G>A/IVS5-612(G>C) in the Achang population of Southwestern China

  • Published:
Science in China Series C: Life Sciences Aims and scope Submit manuscript

Abstract

The prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency and its gene mutations were studied in the Achang population from Lianghe County in Southwestern China. We found that 7.31% (19 of 260) males and 4.35% (10 of 230) females had G6PD deficiency. The molecular analysis of G6PD gene exons 2–13 was performed by a PCR-DHPLC-Sequencing or PCR-Sequencing. Sixteen independent subjects with G6PD Mahidol (487G>A) and the new polymorphism IVS5-612 (G>C), which combined into a novel haplotype, were identified accounting for 84.2% (16/19). And 100% Achang G6PD Mahidol were linked to the IVS5-612 C. The percentage of G6PD Mahidol in the Achang group is close to that in the Myanmar population (91.3% 73/80), which implies that there are some gene flows between Achang and Myanmar populations. Interestingly, G6PD Canton (1376G>T) and G6PD Kaiping (1388G>A), which were the most common G6PD variants from other ethnic groups in China, were not found in this Achang group, suggesting that there are different G6PD mutation profiles in the Achang group and other ethnic groups in China. Our findings appear to be the first documented report on the G6PD genetics of the AChang people, which will provide important clues to the Achang ethnic group origin and will help prevention and treatment of malaria in this area.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Pandolfi P P, Sonati F, Rivi R, et al. Targeted disruption of the house-keeping gene encoding glucose 6-phosphate dehydrogenase (G6PD): G6PD is dispensable for pentose synthesis but essential for defense against oxidative stress. EMBO J, 1995, 14(21): 5209–5215

    PubMed  CAS  Google Scholar 

  2. Sabeti P C, Reich D E, Higgins J M, et al. Detecting recent positive selection in the human genome from haplotype structure. Nature, 2002, 419(6909): 832–837

    Article  PubMed  CAS  Google Scholar 

  3. Volkman S, Barry A, Lyons E, et al. Recent origin of plasmodium falciparum from a single progenitor. Science, 2001, 293(5529): 482–484

    Article  PubMed  CAS  Google Scholar 

  4. WHO and UNICEF. A 5-minutes briefing on the World. Malaria Report, 2005

  5. Li Z X, Zhou J J, Shen Z R, et al. Identification and expression profiling of putative odorant-binding proteins in the malaria mosquitoes, Anopheles gambiae and A. arabiensis. Sci China Ser C-Life Sci, 2004, 47(6): 567–576

    Article  Google Scholar 

  6. Yang J. The prevalence and distribution of malaria in Dehongzhou Prefecture in 1951–2001. China Trop Med (in Chinese), 2004, 4(5): 756–758

    Google Scholar 

  7. Li H, Yang Y, Jiang H. Malaria epidemic and outbreak situation in Yunnan Province in 2003. Parasitizes and Infectious Diseases (in Chinese), 2005, 3(4): 152–156

    Google Scholar 

  8. Beutler E. G6PD deficiency. Blood, 1994, 84(11): 3613–3636

    PubMed  CAS  Google Scholar 

  9. Vulliamy T J, Kaeda J S, Ait-Chafa D. et al. Clinical and hematological consequences of recurrent G6PD mutations and a single new mutation causing chronic nonspherocytic haemolytic anaemia. Br J Haematol, 1998, 101(4): 670–675

    Article  PubMed  CAS  Google Scholar 

  10. Kotaka M, Gover S, Rutten L V, et al. Structural studies of glucose-6-phosphate and NADP(+) binding to human glucose-6-phosphate dehydrogenase. Acta Crystallogr D Biol Crystallogr, 2005, 61(Pr 5): 495–504

    Article  PubMed  Google Scholar 

  11. Jiang, W Y, Yu G L, Liu P. et al. Structure and function of glucose 6-phosphate dehydrogenase-deficient variants in Chinese population. Hum Genet, 2006, 119(5): 463–478

    Article  PubMed  CAS  Google Scholar 

  12. Du C S, Xu Y K, Hu X Y. Favism (in Chinese). Bejing: People’s Medical Publishing House, 1987, 189–193

    Google Scholar 

  13. Betke K, Beutler E, Brewer G J, et al. Standardization of procedures for the study of glucose-6-phosphate dehydrogenase. WHO Tech Rep Ser, 1967, 366: 1–53

    Google Scholar 

  14. Bruggen R V, Bautista J M, Petropoulou T, et al. Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic non-spherocytic anemia, granulocyte dysfunction, and increased susceptibility to infection. Blood, 2002, 100(3): 1026–1030

    Article  PubMed  Google Scholar 

  15. Jiang W, Chen L, Lin Q, et al. Denaturing high-performance liquid chromatography technique platform applied to screen G6PD deficient variants. Chin J Med Genet, 2005, 22(6): 607–611

    CAS  Google Scholar 

  16. Tseng C P, Huang D L, Chong K Y, et al. Rapid detection of glucose-6-phosphate dehydrogenase gene mutations by denaturing high-performancae liquid chromatography. Clinical Biochem, 2005, 38(11): 973–980

    Article  CAS  Google Scholar 

  17. Nuchprayoon I, Sanpavat S, Nuchprayoon S. Glucose-6-phosphate Dehydrogenase (G6PD) mutations in Thailand: G6PD Viangchan (871G>A) is the most common deficiency variant in the Thai population. Human Mutation, 2002, 19(2): 185–190

    Article  PubMed  CAS  Google Scholar 

  18. Matsuoka H, Wang J, Hirai M, et al. Glucose-6-phosphate dehydrogenase (G6PD) mutations in Myanmar: G6PD Mahidol (487G>A) is the most common variant in the Myanmar population. J Hum Genet, 2004, 49(10): 544–547

    Article  PubMed  CAS  Google Scholar 

  19. Panish V, Sungnate T, Wasi P, et al. G-6-PD Mahidol: The most common glucose-6-phosphate dehydrogenase variant in Thailand. J Med Assoc Thailand, 1972, 55: 576–585

    Google Scholar 

  20. Vulliamy T J, Wanachiwanawint W, Mason P J, et al. G6PD Mahidol, a common deficient variant in South East Asia is caused by a (163)glycine-serine mutation. Nucleic Acids Research, 1989(22), 17: 5868

    Article  PubMed  CAS  Google Scholar 

  21. Iwai K, Hirono A, Matsuoka H, et al. Distribution of glucose-6-phosphate dehydrogenase mutations in Southeast Asia. Hum Genet, 2001, 108(6): 445–449

    Article  PubMed  CAS  Google Scholar 

  22. Laosombat V, Sattayasevana B. Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in the south of Thailand and identification of a novel variant (G6PD Songklanagarind). Blood Cells Mol Dies, 2005, 34(2): 191–196

    Article  CAS  Google Scholar 

  23. Anion O, Yu Y H, Amir-Muhriz A L, et al. Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays. Human Mutation, 2003, 21(1): 101–109

    Article  Google Scholar 

  24. Jing W, Du C, Chen L, et al. Study on G487A mutation of the glucose-6-phosphate dehydrogenase gene. Chin J Hematol (in Chinese), 1999, 20: 518–520

    Google Scholar 

  25. Yang Z, Chu J, Ban G, et al. The genotype analysis of glucose-6-phosphate dehydrogenase deficiency in Yunnan Province. Chin J Med Genet (in Chinese), 2001, 18: 259–263

    CAS  Google Scholar 

  26. Tishkoff S A, Varkonyi T, Cahinhinan N, et al. Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer malarial resistance. Science, 2001, 293(5529): 455–462

    Article  PubMed  CAS  Google Scholar 

  27. Matsuoka H, Nguon C, Kanbe T, et al. Glucose-6-phosphate dehydrogenase (G6PD) mutations in Cambodia: G6PD Viangchan (871G→A) is the most common variant in the Cambodian population. J Hum Genet, 2005, 50(9): 468–478

    Article  PubMed  CAS  Google Scholar 

  28. Rahimi Z, Vaisi-Raygani A, Nagel R L, et al. Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Kurdish population of Western Iran. Blood Cells Mol Dis, 2006, 37(2): 91–94

    Article  PubMed  CAS  Google Scholar 

  29. Kang L C, Zhao X R, Zhou Y S, et al. Mutations analysis of STK11gene in Chinese families with Peutz-Jeghers syndrome. Chin Sci Bull, 2003, 48(4): 333–337

    Article  CAS  Google Scholar 

  30. Liu M R, Lu Y Y. Frequent mtDNA mutations and its role in gastric carcinogenesis. Chin Sci Bull, 2002, 47(20): 1720–1724

    Article  CAS  Google Scholar 

  31. Ffranze A, Ferrante M I, Fusco F, et al. Molecular anatomy of the human glucose-6-phosphate dehydrogenase core promoter. FEBS Lett, 1998, 437(3): 313–318

    Article  Google Scholar 

  32. Menounos P G, Garini G A, Patrinos G P. Glucose-6-phosphate dehydrogenase deficiency does not result from mutations in the promoter region of the G6PD gene. J Clinical Lab Anal, 2003, 17(3): 90–92

    Article  CAS  Google Scholar 

  33. Phtlippe M, Larondelle Y, Lemaigre F, et al. Promoter function of the human glucose-6-phosphate dehydrogenase gene depends on two GC boxes that are cell specifically controlled. Eur J Biochem, 1994, 226(2): 377–384

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Biochemistry, Faculty of Basic Medicine, Kunming University of Medical Sciences, Kunming, 650031, China

    Yang YinFeng, Zhu YueChun, Li DanYi, Li ZhiGang, Lü HuiRu, Wu Jing, Tang Jing & Tong ShuFen

Authors
  1. Yang YinFeng
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Zhu YueChun
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Li DanYi
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Li ZhiGang
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Lü HuiRu
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Wu Jing
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Tang Jing
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Tong ShuFen
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Zhu YueChun.

Additional information

These authors contributed equally to this work

Supported by the National Natural Science Foundation of China (Grant No. 30460049)

Rights and permissions

Reprints and permissions

About this article

Cite this article

Yang, Y., Zhu, Y., Li, D. et al. Characterization of glucose-6-phosphate dehydrogenase deficiency and identification of a novel haplotype 487G>A/IVS5-612(G>C) in the Achang population of Southwestern China. SCI CHINA SER C 50, 479–485 (2007). https://doi.org/10.1007/s11427-007-0072-7

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s11427-007-0072-7

Keywords

Search

Navigation