Frequency and characteristics of retinitis pigmentosa I gene point mutation in patients with retinitis pigmentosa: 101 case analysis / 中国组织工程研究

BACKGROUND: Retinitis pigmentosa(RP) is a group of commonest genetic blindness-inducing eyeground diseases, which have relative great heterogenicity in both heredity and phenotype. Pierce et al discovered a new retinal photoreceptor cell specific gene-RP1 in 1999, and also found in their following research that the mutation of this gene can induce autosomal dominant RP(adRP) . Present RP1 molecular genetic researches mainly concentrate in Caucasians.OBJECTIVE: To investigate the mutation frequency, characteristics of RP1gene in Chinese RP patients and its role in RP pathogenesis.DESIGN: A comparative study by employing RP patients as subjects and healthy individuals as control.SETTING: Gene diagnosis and therapy center in a hospital affiliated to a military medical university of Chinese PLA.PARTICIPANTS: Totally 101 RP patients without genetic classification were visited patients of the outpatient Department of Ophthalmology of Hong Kong Prince Wales Hospital and Hong Kong Hospital of Ophthalmology between January 1998 and December 2001, which aged between 10 and 79years old(including 43 male and 58 female cases) with an average age of 40years old. Inclusive criteria: Cases who were in accordance with the general national and international standards for RP diagnosis(including funduscope observation and electroretinogram test). Exclusive criteria: patients of other retinal pathological changes. A total of 190 healthy adults were selected in control group, which had no RP family history and no RP or other eye diseases in eye examination, for the confirmation of whether the detected variation was the polymorphism of RP1 gene.METHODS: Totally 101 cases received conformation sensitive electrophoresis(CSGE) and DNA direct sequencing analyses to detect the point mutation in entire RP1 gene encoding range.MAIN OUTCOME MEASURES: Mutation frequency and patterns of RP1gene in Chinese RP patients and its role in RP pathogenesis.RESULTS: The mutation detectable rate of RP1 gene in all PR patients was 1/101. Mutation ultimately caused serious truncation in RP1 protein. The phenotype of the disease might be originated from functional deficiency in PR1protein synthesis. In addition, 10 missense mutations were found in our study population, most of which were RP1 gene polymorphism except the unconfirmed pathological significance of M479I.CONCLUSION: The deletion of corresponding segments(codon 1052-1933) in RP1 protein would induce RP. Large-scale RP1 genotying is necessary, which also can discover more RP-inducing mutation and RP1 gene polymorphism different from other races simultaneously for further fundamental therapy of RP and thorough improvement of the quality of life of the patients.

Case control study on the risk factors of primary open angle glaucoma in China / 中华流行病学杂志

<p><b>OBJECTIVE</b>The purpose of this study is to comprehensively explore the risk factors of primary open angle glaucoma (POAG) in China.</p><p><b>METHODS</b>Two groups of data based on distinct resources were analyzed to explore the risk factors of POAG. One group of data was based on hospital records between 1995 and 2000 which composed of 107 patients with POAG and 149 controls without POAG. The other group of data was based on 40 patients with POAG and 120 matched controls without POAG. The former was designed by non-matched case control study, the latter was done by 1:3 matched case control study. The relationships between POAG and the factors such as age, sex, family history, diabetes, hypertension, intraocular pressure (IOP), cardiovascular diseases, smoking, drinking and mutation of TIGR gene were studied by logistic regression analysis.</p><p><b>RESULTS</b>The simple factor analysis showed that the risk of POAG was related to age, family history, hypertension, IOP, cardiovascular diseases, smoking, drinking and the mutation of TIGR gene (T353I). However, logistic regression analysis confirmed that POAG mainly related to IOP, family history, hypertension, smoking, alcohol intake and the mutation of TIGR gene.</p><p><b>CONCLUSION</b>The most important risk factor of POAG was IOP. Family history, hypertension, smoking and the mutation of TIGR gene were also important risk factors of POAG. However, alcohol intake was a protective factor for POAG.</p>

Determination of Aesculin and Aesculetin in Jiuxiang Zhixie Tablets by HPLC / 中国药房

OBJECTIVE: To establish a method for the determination of aesculin and aesculetin in Jiuxiang zhixie tablets.METHODS: HPLC method was developed to quantitative determination.Thermo C18(250 mm?4.60 mm,5?m) column was adopted.The mobile phase consisted of acetonitrile-0.1%H3PO4(12 ∶ 88)with flow rate of 1.0 mL?min-1 and the detection wavelength of 334 nm.The column tempreture was set at 30℃.RESULTS: The linear range of aesculin was 80～800 ng(r=0.999 8).The average recovery was 100.1%(RSD=1.89%,n=9).The linear range of aesculetin was 32.96～329.6 ng(r=0.999 5).The average recovery of aesculetin was 101.5%(RSD=2.42%,n=9).CONCLUSION: The method is simple,accurate for the content determination of Jiuxiang zhixie tablet.

Analysis of genetic instability of chromosome 19, 20, 21, 22 and X in retinoblastoma / 中华眼底病杂志

Objective To explore the presence of common genetic alterations in retinoblastoma and to localize the altered genomic regions. Methods Genetic instability of chromosome 19, 20, 21, 22 and X of 15 microdissected retinoblastoma tumors were analyzed by the loss of heterozygosity (LOH) and microsatellite instability (MSI). Results Among the 15 patients with retinoblastoma, genome instability [LOH and(or) MSI] at one or more loci on the 5 chromosomes in 10 (67%), in which the loss of a single allele was more frequent in chromosomes 19 (33%) and 20 (27%) than in the other 3 chromosomes. High-frequency LOH between D19S902 and D19S571 suggested gene loci in the 19q13 region might be associated with tumor development in retina. According to the result of MSI, MSI occured at least in one subset of retinoblastoma. Conclusions Our results provide first evidence of LOH in chromosomes 19 and 20 in retinoblastoma and further support the presence of genome instability in retinoblastoma that may play an important role in the tumorigenesis or progression of retinoblastoma.