Lu X.,Institute of STD AIDS Prevention and Control |
Chen S.,Institute of STD AIDS Prevention and Control |
Zhang Y.,Institute of STD AIDS Prevention and Control |
Zhao H.,Institute of STD AIDS Prevention and Control
Asian Journal of Chemistry | Year: 2013
In this paper, a flow injection-chemiluminescence (FI-CL) was presented for the determination of 2-keto-L-gulonic acid in fermented broth. This method was based on enhance effect of 2-keto-L-gulonic acid on the chemiluminescence reaction between rhodamine B and potassium permanganate in acid medium. The optimized experimental conditions were evaluated. Under optimum conditions, calibration curve over the range of 0.2-60 mg L-1 was obtained. The detection limit of this method was 0.04 mg L-1. The relative standard deviation was 3.7 % for 2.0 mg L-1 2-keto-L-gulonic acid. The method validation has been compared versus HPLC method for determination of 2- keto-L-gulonic acid in fermented broth.
Shen Y.,Childrens Hospital Boston |
Shen Y.,Massachusetts General Hospital |
Shen Y.,Harvard University |
Chen X.,Childrens Hospital Boston |
And 17 more authors.
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics | Year: 2011
The 16p11.2 deletion is a recurrent genomic event and a significant risk factor for autism spectrum disorders (ASD). This genomic disorder also exhibits extensive phenotypic variability and diverse clinical phenotypes. The full extent of phenotypic heterogeneity associated with the 16p11.2 deletion disorder and the factors that modify the clinical phenotypes are currently unknown. Multiplex families with deletion offer unique opportunities for exploring the degree of heterogeneity and implicating modifiers. Here we reported the clinical and genomic characteristics of three 16p11.2 deletion carriers in a Chinese family. The father carries a de novo 16p11.2 deletion, and it was transmitted to the proband and sib. The proband presented with ASD, intellectual disability, learning difficulty, congenital malformations such as atrial septal defect, scoliosis. His dysmorphic features included myopia and strabismus, flat and broad nasal bridge, etc. While the father shared same neurodevelopmental problems as the proband, the younger brother did not show many of the proband's phenotypes. The possible unmasked mutation of TBX6 and MVP gene in this deleted region and the differential distribution of other genomic CNVs were explored to explain the phenotypic heterogeneity in these carriers. This report demonstrated the different developmental trajectory and discordant phenotypes among family members with the same 16p11.2 deletion, thus further illustrated the phenotypic complexity and heterogeneity of the 16p11.2 deletion. © 2010 Wiley-Liss, Inc.