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[Studies on a G6PD polymorphic site, cDNA C1311T].

X Ren1, C Du, Q Lin

  • 1Department of Medical Genetics, SUN Yat-sen University of Medical Sciences, Guangzhou 510089.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
|October 17, 2001
PubMed
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The amplification refractory mutation system (ARMS) method effectively detects G6PD C1311T mutations. This common G6PD mutation occurs in 18.4% of the South Chinese population.

Area of Science:

  • Genetics
  • Molecular Biology
  • Population Studies

Background:

  • Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common genetic disorder.
  • Accurate detection of G6PD gene mutations is crucial for understanding its prevalence and impact.
  • The C1311T and IVS-11 C93T mutations in the G6PD gene are of interest in population genetics.

Purpose of the Study:

  • To establish and validate the amplification refractory mutation system (ARMS) method for detecting the G6PD cDNA C1311T mutation.
  • To determine the frequency of the G6PD C1311T mutation in a normal South Chinese population.
  • To investigate the role of the IVS-11 C93T mutation in G6PD deficient cases.

Main Methods:

  • DNA sequencing was employed to confirm the C1311T and IVS-11 C93T mutations.

Related Experiment Videos

  • The amplification refractory mutation system (ARMS) was developed and optimized for detecting the G6PD C1311T mutation.
  • ARMS was used to screen 103 normal men and 40 G6PD deficient samples.

    • Main Results:

    • The amplification refractory mutation system (ARMS) method was optimized for detecting the G6PD C1311T mutation.
    • The G6PD C1311T mutation was detected in 19 out of 103 normal men, yielding a frequency of 18.4% in the South Chinese population.
    • Four G6PD deficient cases had the IVS-11 93 C allele, and one normal individual carried the IVS-11 93 C-->T variant.

    Conclusions:

    • The amplification refractory mutation system (ARMS) is a reliable, efficient, and time-saving method for detecting known G6PD gene point mutations.
    • The G6PD C1311T mutation is a common polymorphism in the South Chinese population, with a frequency of 18.4%.
    • The IVS-11 C93T mutation may represent another G6PD gene polymorphism and is unlikely to be the primary cause of enzyme deficiency in the studied cases.