Objective To observe the expression of Sonic hedgehog(Shh) in the maxillofacial region of mouse embryo. Methods ABC immunocytohistochemistry method and image analysis were used to detect the expression of Shh in maxillofacial region of 11.5-day,13.5-day and 17.5-day mouse embryo. Results The positive expression was found in maxillary and mandibular region in all three stages (P0.05). No significant difference of expression between maxillary and mandibular region was found. There was no difference of expression between epithelial and connective tissues. Conclusion Shh was positively expressed in maxillofacial region and may be involved in development of this region.

Objective: To observe the expression of Smoothened(Smo) in the maxillofacial region of mouse embryo. Methods: ABC immunocytohistochemistry method and image analysis were used to detect the expression of Smo in maxillofacial region from 11.5th,13.5th to17.5th day of mouse embryo stage. Results: The positive expression was found in maxillary and mandibular region in all three stages (P0.05). No significant difference of expression between maxilla and mandible of mouse embryo was found. And there was no distinct difference of expression between epithelial and connective tissue. Conclusion: Smo was positive expression in maxillofacial region which was considered to involve in development of this region.

Objective To explore the differences between radiation-induced translocation and dicentric chromosome aberrations detected by multicolor fluorescence in situ hybridization (M-FISH) method. Methods The translocation and dicentric chromosome aberrations in lymphocytes of umbilical cord blood induced by different doses of 60 Co gamma rays were analyzed by M-FISH.The specific telomeres and centromeres BAC clones of chromosomes 1,2,3,7,8,9,14 and 15 were used for M-FISH probes. Results (1)The dose-response curves of translocation and dicentric aberrations with absorbed dose levels accorded to linear-quadratic dose-response model.The translocation frequency was not equal to the dicentric frequency at most dose levels;(2)The proportion of cells with complete translocation but without unstable chromosome aberration decreased with increasing absorbed dose;(3)The observed values and the predicted values of chromosome aberrations,induced by 3 Gy gamma radiation,were not significantly different in most of the labeled chromosomes,but chromosome 9 had observed values significantly higher than predicted values ( P 0.05 or P 0.01),and chromosome 15 vice versa ( P 0.01). Conclusion The frequency of chromosome translocation induced by ionizing radiation is not equal to that of dicentric aberration.The frequencies of translocation and dicentric chromosome aberrations induced by ionizing radiation are at random for most chromosomes. ;

目的 对原发性红斑性肢痛症的致病基因进行定位及突变研究.方法收集一个原发性红斑性肢痛症家系成员和一个散发病例的血样抽提基因组DNA.选用2号染色体长臂上已知致病区域的6个微卫星标记对该家系成员进行基因扫描,并对基因分型结果进行连锁分析及单倍型分析.PCR扩增SCN9A基因的全部外显子,并进行测序.针对所发现的突变以Hph Ⅰ、BsrS Ⅰ内切酶行限制性片段长度多态性(RFLP)分析.结果连锁分析结果发现本家系在微卫星标记D2S2370和D2S2330的两点最大LOD值为2.11(重组率=0.00),单倍型分析发现本家系在微卫星标记D2S1353和D2S2345存在重组.家系患者和散发病例均存在SCN9A基因第15外显子的错义杂合点突变:家系全部患者均存在T2573A杂合突变,散发病例存在T2543C杂合突变,分别导致Nav1.7第858位的亮氨酸被替换为组氨酸(L858H)及第848位的异亮氨酸被苏氨酸替换(I848T).RFLP证实了正常对照无此突变.结论在世界上首次证明SCN9A基因是原发性红斑性肢痛症的候选致病基因。

Objective: To explore the interphase fluorescence in situ hybridization (FISH) method to rapidly detect the numerical sex chromosome abnormality of gonad agenesis patients. Methods: X specific BAC (bacterial artificial chromosome) DNA and pY3.4 DNA were labeled with biotin-14-dATP or digoxigenin-11dUTP, respectively. Two colors interphase FISH was used to analyze the lymphocytes of gonad agenesis patients. Results: The result of interphase FISH method on gonad agenesis was in good agreement with that of traditional chromosome analysis, no matter 47,XXY?46,XY/47,XXY or sex reverse. Conclusion: The two colors interphase FISH method could be used to rapidly detect the numerical sex chromosome abnormality of gonad agenesis.

目的:分析1组面横裂及附耳家系的临床表现及遗传学特征.材料和方法:我们随访到1组面横裂及附耳家系,家系内随访到共有5代发病,目前存活有4代,家系内共有成员60余人,进行了临床表型和遗传学的初步分析.结果:家系内有并发面横裂及附耳症状的病例5人,单纯附耳症状的病例7人,在遗传方式上属于常染色体显性遗传,从细胞遗传学水平对家系中成员进行染色体检测,未发现核型及染色体的异常.结论:家族性面横裂及附耳为常染色体显性遗传,核型及染色体检测未发现异常.