| Literature DB >> 26355741 |
Qing Li, Fang Yang, Rong Liu, Lan Luo, Yuling Yang, Lu Zhang, Huaie Liu, Wen Zhang, Zhixiang Fan, Zhaoqing Yang, Liwang Cui, Yongshu He.
Abstract
[This corrects the article DOI: 10.1371/journal.pone.0134593.].Entities:
Year: 2015 PMID: 26355741 PMCID: PMC4565689 DOI: 10.1371/journal.pone.0138038
Source DB: PubMed Journal: PLoS One ISSN: 1932-6203 Impact factor: 3.240
Prevalence [n (%)] of G6PD variants in 198 unrelated G6PD-deficient participants .
| Mutations | Amino Acid Substitution | Total (n = 198) | Female (n = 147) | Male (n = 51) |
| |
|---|---|---|---|---|---|---|
| Homozygous | Heterozygous | |||||
|
| ||||||
| Chinese 4 392G>T | G131V | 1 (0.5%) | 0 | 1 (0.7%) | 0 | |
| Mahidol 487G>A | G163S | 76 (38.4%) | 5 (3.4%) | 52 (35.4%) | 19 (37.3%) | 0.870 |
| Viangchan 871G>A | V291M | 1 (0.5%) | 0 | 1 (0.7%) | 0 | |
| Canton 1376G>T | R459L | 1 (0.5%) | 0 | 1 (0.7%) | 0 | |
| Kaiping 1388G>A | R463H | 6 (3.0%) | 1 (0.7%) | 3 (2.0%) | 2 (3.9%) | 0.000 |
| Mahidol/Viangchan | G163S/V291M | 1 (0.5%) | 0 | 1 (0.7%) | 0 | |
| Mahidol/Kaiping | G163S/R463H | 1 (0.5%) | 0 | 1 (0.7%) | 0 | |
|
| ||||||
| 1311C >T/93 T>C | Silent mutations | 95 (48.0%) | 9 (6.1%) | 74 (50.3%) | 12 (23.5%) | 0.000 |
|
| 42 (21.2%) | 24 (16.3%) | 18 (35.3%) | |||
# The mutations Gaohe 95 A >G (H32R), Coimbra 592 C >T (R198C), Chinese 5 1024C >T (L342F), and Union 1360 C>T (R454C) were genotyped and not found in this study population.
*P value shows the differences in the prevalence of major G6PD deficiency variants between males and females compared using the Fisher’s exact test (two-tailed).
** 24 and 2 of these double silent mutations co-occurred in females heterozygous for the Mahidol and Kaiping mutations, respectively.