OBJECTIVE:To investigate the genetic polymorphisms of cytochrome P4503A4(CYP3A4) in epilepsy patients treated with carbamazepine,and to provide reference for individual drug regimen.METHOD:Blood samples were collected from epilepsy patients treated with carbamazepines.Mutations in CYP3A4 gene were detected by polymerase chain reaction and restriction fragment length polymorphism(PCR-RFLP).RESULTS:After screening the 141 subjects,the individual mutation rates of the allele CYP3A4*4 and CYP3A4*6 were 0.71%.No allele CYP3A4*5 was found in 141 subjects.CONCLUSION:CYP3A4 genetic polymorphisms may change the activity of CYP3A4 gene.

OBJECTIVETo analyze clinical features and genetic mutations in a Chinese family affected with autosomal dominant caveolinopathies.

METHODSClinical data of the proband and her family members were collected. Genomic DNA was extracted from peripheral blood samples with a standard procedure. Next generation sequencing was carried out for the proband, and direct sequencing was employed to detect potential mutation of the CAV gene.

RESULTSThe proband presented with slowly progressing distal muscle weakness and atrophy, especially distal upper limbs and muscular soreness during early childhood, with her CK level moderately elevated and EMG showing myogenic and neurogenic injuries. Her sisters presented mild symptoms with hand muscle atrophy and fasciculation after exercise. A heterozygous missense mutation c.80G>A (p.Arg27Gln), which was reported as being pathogenic, was identified in the CAV3 gene in the proband and her sisters.

CONCLUSIONA heterozygous c.80G>A (p.Arg27Gln) mutation in the CAV3 gene probably underlies the autosomal dominant caveolinopathies in this Chinese family.

Caveolin 3 ; genetics ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Middle Aged ; Muscular Dystrophies ; genetics ; Mutation

Bifendate, a synthetic anti-hepatitis drug, exhibits polycrystalline mode phenomena with 2 polymorphs reported (forms A and B). Single crystals of the known crystalline form B and 3 new crystallosolvates involving bifendate solvated with tetrahydrofuran (C), dioxane (D), and pyridine (E) in a stoichiometric ratio of 1:1 were obtained and characterized by X-ray crystallography, thermal analysis, and Fourier transform infrared (FT-IR) spectroscopy. The differences in molecular conformation, intermolecular interaction and crystal packing arrangement for the four polymorphs were determined and the basis for the polymorphisms was investigated. The rotation of single bonds resulted in different orientations for the biphenyl, methyl ester and methoxyl groups. All guest solvent molecules interacted with the host molecule via an interesting intercalative mode along the [1 0 0] direction in the channel formed by the host molecules through weak aromatic stacking interactions or non-classical hydrogen bonds, of which the volume and planarity played an important role in the intercalation of the host with the guest. The incorporation of solvent-augmented rotation of the C-C bond of the biphenyl group had a striking effect on the host molecular conformation and contributed to the formation of bifendate polymorphs. Moreover, the simulated powder X-ray diffraction (PXRD) patterns for each form were calculated on the basis of the single-crystal data and proved to be unique. The single-crystal structures of the four crystalline forms are reported in this paper.