ObjectiveTo investigate the association between R405Q polymorphism of GLI1 gene and tetralogy of fallot(TOF).Methods In the case-control study,the R405Q polymorphism of GLI1 gene in 112 children with TOF and 200 healthy controls were detected with polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP).The distribution of genotype and allele frequency at R405Q polymorphism site were analyzed and to investigate its relationship with the risk of TOF.ResultsThe distribution of genotype frequency at R405Q polymorphism site was not different between TOF group and the healthy control group(x2 =5.317 ,P = 0.07) .However, the distribution of allele frequency at R405Q polymorphism site was significantly different between TOF group and the healthy control group (x2 = 6.790, P = 0.009) , and the relative risk for TOF in A allele carriers was higher than that in G allele carriers (OR = 1.561,95％ CI 1.116 ～ 2.185) Conclusion The R405Q polymorphism of GLI1 gene is associated with TOF and people with A allele have higher risk with TOF.GLI1 gene might be the genetic susceptibility gene of TOF.

OBJECTIVETo investigate the feasibility of using immunohistochemical technique to detect the presence of fetal erythroblasts in the maternal circulation for prenatal diagnosis.

METHODSMaternal blood was obtained from 30 pregnant women at 8 to 26 weeks of gestation. Nucleated red blood cells (NRBCs) were separated with Percoll using a discontinuous density gradient method, and then smeared on microscope slides using cytocentrifugation. Slides were stained with antibody against the gamma-chain of fetal hemoglobin (HbF). All positive NRBCs were collected by micromanipulator under microscopic observation, and then amplified by improved primer extension preamplification(PEP). Sex and Duchenne's musclar dystrophy (DMD) genetic diagnosis were determined from a small aliquot of the PEP reaction.

RESULTSNRBCs stained with HbF were found in all of the blood from the 30 pregnant women at 8 to 26 weeks of gestation. 17 male fetuses and 13 female fetuses were detected in the 30 cases. These results coincided with those of induced labor or amniotic fluid control, and 8 fetuses at the risk of DMD were diagnosed.

CONCLUSIONThis diagnostic method using immunohistochemical technique to mark fetal NRBC shows good application prospects.

Antibodies, Monoclonal ; immunology ; Erythroblasts ; immunology ; metabolism ; Female ; Fetal Hemoglobin ; immunology ; Gestational Age ; Humans ; Immunohistochemistry ; Microscopy ; Pregnancy ; Prenatal Diagnosis ; methods

OBJECTIVE：To p rovide policy suggestions for the development and supervision of online drugstores in China. METHODS：By literature review ，the relevant literatures and policy documents about the development of online drugstores were searched，screened and sorted out to summarize the development process of China ’s internet drug trading mode and policy ，analyze the development status of China ’s online drugstores ；on the basis of the development experience of some developed countries ，the suggestions were put forward for China ’s relevant policies. RESULTS & CONCLUSIONS ：China’s medical e-commerce started relatively late ，and the policies related to online drug trading were basically released during last 20 years. The number of online drugstores showed a growing trend. The online drugstores were geographically allocated widely but unevenly. They sold many varieties，and policies on selling prescription medicines were gradually liberalized. These online drugstores provided diverse payment and delivery choices ，but their pharmaceutical service needed to be improved. The development models of online drugstores in the United Kingdom ，the United States and Germany could be referred. According to the current situation of online drugstores in China ， combined with the development mode and operation strategy in foreign countries ，it is suggested to improve relevant laws and regulations，and strengthen legal support ；strengthen the government supervision to ensure drug safety ；use the industrial power to standardize medicine operation behavior ；set up the third part trading platform to promote medical insurance payment.