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Yan J.-B.,Beijing Jiaotong University | Yan J.-B.,Key Laboratory of Embryo Molecular Biology | Yan J.-B.,Shanghai Laboratory of Embryo and Reproduction Engineering | Xu H.-P.,Newborn Screening Center | And 14 more authors.
Journal of Molecular Diagnostics | Year: 2010

Glucose-6-phosphate dehydrogenase (G6PD) deficiency, an X-linked inherited disease, is one of the most common enzymopathies and affects over 400 million people worldwide. In China at least 21 distinct point mutations have been identified so far. In this study high-resolution melting (HRM) analysis was used to screen for G6PD mutations in 260 unrelated Han Chinese individuals, and the rapidity and reliability of this method was investigated. The mutants were readily differentiated by using HRM analysis, which produced distinct melting curves for each tested mutation. Interestingly, G1388A and G1376T, the two most common variants accounting for 50% to 60% of G6PD deficiency mutations in the Chinese population, could be differentiated in a single reaction. Further, two G6PD mutations not previously reported in the Chinese population were identified in this study. One of these mutations, designated "G6PD Jiangxi G1340T," involved a G1340T substitution in exon 11, predicting a Gly447Val change in the protein. The other mutation involved a C406T substitution in exon 5. The frequencies of the common polymorphism site C1311T/IVS (intervening sequence) XI t93c between patients with G6PD and healthy volunteers were not significantly different. Thus, HRM analysis will be a useful alternative for screening G6PD mutations. Copyright © American Society for Investigative Pathology and the Association for Molecular Pathology. Source


Dayaldasani A.,Newborn Screening Center | Ruiz-Escalera J.,Newborn Screening Center | Rodriguez-Espinosa M.,Newborn Screening Center | Rueda I.,Newborn Screening Center | And 2 more authors.
International Journal for Vitamin and Nutrition Research | Year: 2014

Introduction. Low maternal vitamin B12 status is a risk factor for various adverse pregnancy outcomes. Although vitamin B12 deficiency is not a primary target of newborn screening (NBS) programs, measurements of propionylcarnitine (C3) and its ratios with acetylcarnitine (C3/C2) and palmitoylcarnitine (C3/C16) may incidentally identify vitamin B12-deficient newborns. The objective of this study was to measure vitamin B12 levels in women during the first trimester of pregnancy, evaluate predictors of these concentrations, and study their relationship with newborn screening results. Design: Vitamin B12 concentrations were evaluated in 204 women during the first trimester of pregnancy and possible confounding factors were analyzed. After giving birth, data of their newborns (189) were collected (sex, gestational age, birthweight) and the acylcarnitine profile obtained by tandem mass spectrometry during NBS was analyzed. To assess the effects of the variables on vitamin B12 serum concentrations and newborn screening markers, stepwise multiple linear regression models were used. Results: The mean serum concentration of vitamin B12 was 370.8 pmol/L (502.4 pg/mL) (SD 142.81). Vitamin B12 concentrations were significantly lower in smokers (p = 0.027), and in women with low meat consumption (p = 0.040). There was a significant inverse correlation between mothers' vitamin B12 concentrations and their children's C3 (r = - 0.24; p = 0.001), C3/C2 (r = - 0.23; p = 0.002) and C3/C16 levels (r = - 0.20; p = 0.006). Conclusions: Newborn screening markers (C3, C3/C2, and C3/C16) present an inverse correlation with maternal vitamin B12 status in the first trimester of pregnancy. Regarding factors that may influence maternal serum vitamin B12 levels during the first trimester, smoking seems to have a negative effect, and meat consumption a positive effect. © 2014 Hans Huber Publishers, Hogrefe AG, Bern. Source

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