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Table 2 Summary of mutations detected in 110 deficient Saudi patients in Jeddah and the frequency of 1311T and IVS-XI-93C polymorphisms.

From: Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Jeddah, Kingdom of Saudi Arabia

G6PD Variants

Mutation

Amplified Exon/Intron

Number of Patients and

Percentage [n (%)]

Mediterranean

c.563 C > T

6

98 (89.1%)

Aures

c.143 T > C

3

11 (10.0%)

G6PD A ¯

c.202 G > A

4

0 (0%)

 

c.376 A > G

5

0 (0%)

Chatham

c.1003 G > A

9

1 (0.9%)

Polymorphism

(33 chromosomes of 25 males and 4 females)

c. 1311T

11

14 (42.4%)

 

IVS-XI-93C

Intron 11

21 (63.6)

 

1311T/IVS-XI-93C

Exon/intron 11

14 (42.4%)

  1. Abbreviations: A, alanine; C, cysteine; G, glycine; G6PD, glucose-6-phosphate dehydrogenase; T, threonine