The purpose of the current study was to investigate the abnormal expression of Col X, PTHrP, TGF-β, bFGF, and VEGF in cartilage from patients with Kashin-Beck disease (KBD) to understand the pathogenesis of chondronecrosis in KBD. Articular cartilage and growth plate cartilage collected were divided into four groups: control children (8 samples, 5 cases), KBD children (19 samples, 9 cases), control adults (8 samples, 6 cases), and KBD adults (16 samples, 15 cases). The presence of PTHrP, TGF-β1, bFGF, VEGF, and collagen X in articular cartilage and in growth plate cartilage was analyzed by immunohistochemistry. Articular cartilage and growth plate were each divided in three zones, and the rate of positive cells was counted by light microscope for cytoplasmic and pericellular staining. Results showed that (1) in KBD children, Col X expression was lower in the deep zone of growth plate cartilage than in normal children; in articular cartilage of KBD adults, however, collagen X expression was higher in the middle zone compared to the controls; (2) staining for bFGF, PTHrP, TGF-β1, and VEGF in KBD adult patients was prominent in the chondrocyte clusters and the eroded surface of articular cartilage, and the percentage of chondrocyte staining was significantly higher than in control samples (t=3.64-10.34, df=12 for children and 19 for adults, P=0.002-0.0001); and (3) the enhanced PTHrP, TGF-β1, and VEGF staining in the deep and middle zone of KBD articular cartilage correlated with the high incidence of chondronecrosis in the middle zone (48.5% ± 10.2%) and deep zone (70.6%±27.0%) of adult KBD cartilage. In conclusion, Col X expression was reduced in areas of chondrocyte necrosis in the deep zone of KBD articular cartilage, indicating changes in terminal chondrocyte differentiation. PTHrP, TGF-β1, and VEGF expression was significantly altered and indicated degenerative changes in KBD cartilage, which initially resemble those occurring in osteoarthritis, but lead eventually to chondronecrosis, an event not observed in osteoarthritis.

Twenty clinical symptoms and four radiological signs of different joints in patients with Kashin-Beck disease (KBD) were studied in 2560 subjects from endemic and non-endemic areas of the Shaanxi Province in China. It is suggested to classify the symptoms into five groups representing different manifestations of the disease. The association of some of the symptoms appears to provide significant criteria for use in the diagnosis of KBD.

Objective To analyze the genetic polymorphism of 5 STR loci (D12S304, D12S313, D12S1583, D12S1640 and D12S1708) on chromosome 12 in Chinese Han population. Methods EDTA-anticoagulated blood specimens were collected from unrelated individuals of Chinese Han population in Shaanxi province. DNA samples were extracted with the Wizard Genomic DNA purification Kit and were amplified by polymerase chain reaction (PCR) technique. The PCR products were analyzed by ABI 3100 Genetic Analyzer. Results All 5 loci were in Hardy-Weinberg equilibrium. Allele and genotype frequencies, heterozygosity, power of discrimination, polymorphism information content, probability of paternity exclusion and matching probability of each locus were calculated in Excel 2002. Conclusion They are complexloci with lots of evenly distributed alleles and high heterozygosity in Chinese Han population. Thus they are informative polymorphicloci and valuable DNA marker which represents a superior alternative to many established STRs.

目的 分析大骨节病核心家庭的发病特点。方法 应用临床诊断搜集大骨节病核心家庭，根据父母患大骨节病情况将4938个核心家庭分为四种类型，结合病区类型，分析轻、中、重病区内不同核心家庭子代患病率及其家庭聚集性。结果 （1）核心家庭类型与病区类型的轻重有关；（2）中、重病区核心家庭子1代患病具有家庭聚集性；（3）仅双亲和父亲患大骨节病的核心家庭子1代具有明显的家庭聚集性；（4）双亲患大骨节病的核心家庭的子1代患病率明显高于单亲或双亲不患大骨节病的核心家庭。结论 大骨节病病区人群的患病除了与轻、中、重病区的类型有关，还可能与核心家庭双亲患大骨节病的情况有关。