目的 探讨大骨节病患者关节软骨细胞凋亡及相关调控因子Bcl-2、Box、Fas及iNos表达分布的特点。方法 收集15例大骨节病儿童和15例正常对照儿童关节软骨。采用脱氧核糖核酸末端转移酶介导的脱氧核糖核酸缺口标记（TUNEL）技术和Bcl-2、Bax、Fas及iNos蛋白免疫组化抗生物素蛋白-生物素-碱性磷酸酶（B-SA）法染色，观察大骨节病儿童和正常对照儿童关节软骨的凋亡细胞和Bcl-2、Bax、Fas及iNos蛋白阳性表达细胞的密度与分布。结果 （1）大骨节病儿童关节软骨中层凋亡阳性细胞数[（33.60±2.71）%]较正常关节软骨[（1.33±0.41）%]显著增多（t=11.59P<001）；（2）大骨节病儿童关节软骨表层和中层Bcl-2、Bax、Fas及iNos的表达显著高于正常关节软骨中的表达（t=11.75～18.65，P<0.01）；大骨节病儿童关节软骨各层Bcl-2、Bax、Fas及iNos表达阳性率有显著性差异（F=73.49～114.42，P<0.01）。以表层最多[分别为（41.93±12.26）%、（45.60±15.78）%、（53.60±16.49）%和（45.47±14.02）%]。其次为中层[分别为（14.93±3.50）%、（13.87±4.32）%、（23.27±4.83）%、（21.67±6.82）%]。结论 大骨节病患者关节软骨细胞凋亡及相关调控因子Bcl-2、Bax、Fas、iNos表达较正常人显著增多。

目的 探索甲状旁腺激素相关肽（PTH rP）在大骨节病儿童及成人关节软骨中的表达及分布。方法 应用免疫组化方法比较正常儿童和成人与大骨节病儿童和成人关节软骨中PTH rP的表达。结果 ①大骨节病儿童关节软骨表层、中层、深层PTH rP阳性细胞表达率分别为30%、24% 和31%，中层、深层表达率比正常儿童明显增高（P<0.01）；②大骨节病成人关节软骨表、中、深层PTH rP阳性细胞表达率分别为54%、46% 和16%，各层细胞阳性表达率均明显高于正常组（P<0.01）。③大骨节病儿童与成人比较各层软骨细胞PTH rP的阳性表达差异均有显著意义（P<0.01），表现为表、中层成人高于儿童，深层儿童高于成人。结论 大骨节病患者关节软骨中PTH rP阳性表达率高于正常对照。

Objective To analyze the genetic polymorphism of 6 STR loci (D12S358, D12S1675, D12S1663, D12S1697, D12S1725 and D12S1613) on chromosome 12 in Chinese Han population. Methods EDTA-blood specimens were collected from 153 unrelated individuals of Chinese Han population in Shaanxi province. Allele and genotype frequencies for the 6 STR loci were estimated and statistical parameters of polymorphism were calculated. Re sults 8 alleles and 18 genotypes, 10 alleles and 17 genotypes, 9 alleles and 15 genotypes, 12alleles and 29 genotypes, 12 alleles and 31 genotypes, 8 alleles and 11 genotypes were observed at D12S358, D12S1675, D12S1663, D12S1697, D12S1725 and D12S1613, respectively. No deviations of the observed allele frequency from Hardy-weinberg equilibrium expectations were found for any of these loci. The Heterozygotes of these 6 loci were 78.89%, 66.10%, 54.95%, 79.10%, 71.98% and 59.48%, respectively. It indicated the high genetic polymorphism of the loci in Chinese Han population. Conclusion The 6 STR loci belonged to the genetic marker system of high discriminutesation and high information in Chinese Han population and can be used in the study of gene-related diseases.

目的 探讨大骨节病患者关节软骨细胞凋亡及相关调控因子Bcl-2表达分布的特点。方法 采用脱氧核糖核酸末端转移酶介导的脱氧核糖核酸缺口标记法（TUN EL氏法）检测凋亡阳性细胞，利用单克隆抗体免疫组化检测Bcl-2在关节软骨中的表达。结果 ①TUN EL法染色的大骨节病儿童关节软骨凋亡阳性细胞数较正常关节软骨增多，且主要分布在中层。②大骨节病儿童关节软骨Bcl-2的表达显著高于正常关节软骨中的表达，以表层最多，其次为中层；成人晚期大骨节病患者剥蚀的关节软骨表层Bcl-2的表达聚集在软骨细胞团中。结论 大骨节病患者关节软骨细胞凋亡及相关调控因子Bcl-2表达较正常人显著增多。

The relation ship of cause-result between low selen ium (Se) and Kashin-Beck disease (KBD) was probed by the prospective study of epidemiolog icalmethod with regarding low-Se as an exposure factor in this paper. 597 healthy children l ived in KBD areas with low, middle and high prevalence were divided in to the low-Se exposed group and the non-low-Se exposed group according to their Secontent in hair. The low-Se exposed group was divided in to three subgroups, such as Secontent in hair ≤ 110ng/g, 110ng/g<Secontent in hair≤150ng/g and 150ng/g<Secontent in hair ≤ 200ng/g, respectively. Six new cases of the total with KBD (incidence was 01574% person-year) were found in the low-Se exposed group during three years period of the investigation. No new case was found in the non low-Se exposed group. KBD incidence was notsign if icantly different between those two groups. Two new cases were found in children with Secontent in hair keptbelow 110ng/g during three years (inc idence: 1121% person-year). SMR in each group indicated that the new cases observed in the low-Se exposed group was remarkable lower than the new cases expected. It was not observed that the dose-respon serelation ship between low-Se and KBD, and was not supported that the low-Se was a predominant factor to cause KBD.