On the basis of analysis and summary of current application of reference extracts of traditional Chinese medicine, reference extracts for quality assessment of traditional Chinese medicines are divided into three classes by purpose: 1. herbal or volatile oil reference extracts for TLC identification of original herbal medicines or patent traditional Chinese medicines containing original herbal medicines. 2. component reference extracts for identification of certain components or positioning of chromatographic peaks. 3. reference extracts marked with component content to be determined for quantitative analysis on samples. For the third kind of reference extracts, akebiae saponin was taken as an example for preparation thought and methods in such aspects as preparation process, component identification and content analysis.
Drugs, Chinese Herbal ; chemistry ; isolation & purification ; standards ; Medicine, Chinese Traditional ; standards ; Plants, Medicinal ; chemistry ; Quality Control ; Saponins ; chemistry ; isolation & purification

OBJECTIVETo detect mutations of the XPC (XPC complex subunit, DNA damage recognition and repair factor) gene in a family affected with xeroderma pigmentosum group C (XP-C).

METHODSThe patient was subjected to next-generation sequencing and Sanger sequencing. Suspected mutations were validated by Sanger sequencing. Effect of splicing mutation was confirmed by reverse transcription-PCR (RT-PCR).

RESULTSCompound heterozygous mutations of c.2098G to T and c.2034-7_2040del were found in the XPC gene in the proband. Among these, c.2098G to T (p.G700X) is a nonsense mutation resulting in a truncated XPC protein. C.2034-7_2040del involves the -1 position, which may alter the splice donor site of the intron 11 of XPC and result in a truncated XPC protein with loss of amino acids from 940 to 679 positions. The two mutations were not detected among 100 unrelated healthy controls.

CONCLUSIONMutations of c.2098 G to T and c.2034-7_2040del of the XPC gene may lead to abnormal XPC expression and reduction or elimination of normal XPC functions, which may underlie the disease in this family.