Objective To establish a method for the quantitative determinations of the ingredients in yiqi hewei capsules. Methods RP-HPLC method was used. The separation was performed on a Thermo C18 column with mobile phase consisting of acetonitrile-water (20: 80) (pH was adjusted to 3 with glacial acetic acid) at the flow rate of 1. 0 mL·min-1. The detection wavelength was 283 nm. Results The linear ranges were ( 0. 5735 -5. 7360) × 10 -2 mg·mL-1 for baicalin, (0. 1940-1. 9395) × 10 -2 mg·mL-1 for hesperidin, (0. 2051 -2. 0510) × 10 -3 mg·mL-1 for naringin and (0. 2020 -2.0200) ×10 -2 mg·mL-1 for neohesperidin;RSD =0.28%,0.54%,0.54%,0.31%(n =5),respectively. The average recoveries were 103. 94%, 98. 06%, 103. 09%, 95. 67%, respectively. Conclusion The established method is simple, sensitive and accurate,which can be used for the quality control of yiqi hewei capsules.

OBJECTIVETo detect mutations of SLC25A13 gene in 20 families affected with citrin deficiency and provide prenatal diagnosis for them.

METHODSThe 20 probands and their parents were subjected to high-frequency mutation screening combined with Sanger sequencing. After confirming the genotype of each pedigree, genetic counseling and prenatal diagnosis were performed for their subsequent pregnancies.

RESULTSBiallelic pathogenic mutations of the SLC25A13 gene were identified in all probands. These included three deletions (c.851del4, c.1092_1095delT, and c.495delA), two splice-site mutations (IVS6+5G to A and IVS11+1G to A), two nonsense mutations (c.775C to T (p.Q259X) and c.72T to A (p.Y24X)), one duplication mutation (c.1638_1660dup), one insertion (IVSl6ins3kb), and one missense mutation (c.1775A to C (p.Q592P)). Among 24 fetuses undergoing prenatal diagnosis, 8 had normal genotypes, 11 were mutation carriers, while 5 harbored biallelic mutations. Those with wild type alleles or heterozygous SLC25A13 mutations were delivered. Two fetuses harboring homozygous c.851del4 mutations were also delivered. Three fetuses harboring biallelic mutations were terminated.

CONCLUSIONAnalysis of SLC25A13 gene mutations in families affected by citrin deficiency can provide evidence for molecular diagnosis and facilitate genetic counseling and prenatal diagnosis for the subsequent pregnancy, which can effectively reduce the risk of birth of further affected children.