Study on original investigation, macroscopic and microscopic identification of pharmacopoeia contained species of Epmedii Folium / 中国中药杂志

Epimedii Folium is a commonly used traditional Chinese drug, and now still depends on the wild resource. In recent years, with the surge in consumption, the resources are declining, the use of market varieties are constantly changing. In this paper, Production and sales situation of the five species contained in pharmacopoeia(Epimedium brevicornu, E. sagittatum, E. pubescens, E. koreanum and E. wushanense) have been studied on the basis of the existing researches, in-depth investigation and collection of accurate plant specimens and samples. And the origins of Epimedii Folium regulated by the pharmacopoeia have been discussed. At the same time, more exclusive and practical features have been summarized on the basis of observation and comparison with the stereo, optical and stereo-fluorescence microscopy technologies, and refering the related literatures on leaf structure and anatomy.The results of this study will provide a useful reference for the clinical medication, supervision, inspection, and standard drafting and so on.

Identification of Epmedii Folium and its counterfeit leaf of Quercus variabilis / 中国中药杂志

Epmedii Folium is a commonly used traditional Chinese drug, and is beneficial for the "liver" and "kidney" s function in Chinese medicine. Recently, the origin of this drug is more complex. Most of the identification studies are emphasized on the species certified by the pharmacopoeia and other related species from the same genus of Epimedium, but few was emphasized on the counterfeit. In this paper, one counterfeit of Epmedii Folium, identified as the dried leaf of Quercus variabilis (Fam. Fagaceae), has been reported based on field investigation, comparing specimen of Epmedii Folium and Q. variabilis,using the macroscopic, microscopic and TmC methods. It is resulted that they could be identified clearly not only by the macroscopic features, such as the vein character and the tooth apex, but also by the microscopic features, such as the vascular bundles of the midrib, the non-glandular hair, the anticlinal wall of the epidermis cell and the calcium oxalate crystal. Furthermore their TLC chromatograms showed also difference. This study will give reference for the identification of Epmedii Folium and the related supervision and inspection work.

Genetic analyses of Chinese patients with digenic oculocutaneous albinism / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Oculocutaneous albinism (OCA) is a heterogeneous and autosomal recessive disorder in all populations worldwide. The mutational spectra of OCA are population-specific. Some OCA patients carry mutations from different OCA genes. In this study, we investigated the frequency of digenic mutations in Chinese OCA patients.</p><p><b>METHODS</b>Genomic DNAs were extracted from the blood samples of 184 clinically diagnosed OCA patients and 120 unaffected subjects. The amplified DNA segments of the exons and exon-intron boundaries were screened for mutations of TYR, OCA2, TYRP1, SLC45A2, and HPS1 by direct sequencing. To exclude the previously unidentified alleles from polymorphisms, samples from 120 unaffected controls were sequenced for the same regions of variations.</p><p><b>RESULTS</b>In all 184 patients, 134 had two pathologic mutations on one locus. Eleven cases had no apparent pathologic mutations in any of the genes studied. Among the remaining 39 patients who had only one pathologic mutation, five patients (2.7% in total) were found to carry the mutational alleles on a second locus in TYR, OCA2 or SLC45A2. Of the five digenic OCA patients, four patients were clinically diagnosed as OCA2 and one patient as OCA1. A previous unidentified allele p.G188D in SLC45A2 was identified, which was not present in the 120 unaffected controls.</p><p><b>CONCLUSIONS</b>The identification of the digenic OCA patients suggests the synergistic roles among TYR, OCA2 and SLC45A2 during melanin biosynthesis, which may cause OCA under digenic mutations. This information will be useful for gene diagnosis and genetic counseling of OCA in China.</p>

A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>The mutation of the tyrosinase (TYR) gene results in oculocutaneous albinism type 1 (OCA1), an autosomal recessive genetic disorder. OCA1 is the most common type of OCA in the Chinese population. Hence, the TYR gene was tested in this study. We also delineated the genetic analysis of OCA1 in a Chinese family.</p><p><b>METHODS</b>Genomic DNA was isolated from the blood leukocytes of a proband and his family. Mutational analysis at the TYR locus by DNA sequencing was used to screen five exons, including the intron/exon junctions. A pedigree chart was drawn and the fundus of the eyes of the proband was also examined.</p><p><b>RESULTS</b>A novel missense mutation p.I151S on exon 1, and homozygous TYR mutant alleles were identified in the proband. None of the mutants was identified among the 100 normal control subjects. Genetic analysis of the proband's wife showed normal alleles in the TYR gene. Thus, the fetus was predicated a carrier of OCA1 with a normal appearance.</p><p><b>CONCLUSION</b>This study provided new information about a novel mutation, p.I151S, in the TYR gene in a Chinese family with OCA1. Further investigation of the proband would be helpful to determine the effects of this mutation on TYR activity.</p>