At present,birth defects and genetic diseases has become a major public health problem affecting children's health and quality of births.Genetic diagnostic testing of DNA or RNA by molecular biological methods is an important means of birth defects and genetic disease detection.This review will elaborate the applications and prospects of mainstream technology of genetic diagnosis in the fields of birth defects and genetic diseases detection.

Objective To explore the role of tumor inhibition of enhancer binding protein C/EBPα in the leukemic mice. Methods BALB/c nude mice were randomly divided into three groups. Three kinds of cells including pEGFP-C/EBPα-K562 cells, pEGFP-K562 cells and K562 cells as the control were injected into mice separately through the subcutaneous and tail vein, and subcutaneous tumors and leukemic models were formed. The changes of tumors were observed and the apoptosis of cells was detected by TUNEL; The capacity of proliferation of leukemia cells was observed in the bone marrow and the peripheral blood by Wright-Giemsa staining. The expression of genes of related to proliferation was detected by RT-PCR. Results The quality and the max diameter of tumors in the pEGFP-C/EBPα-K562 group were smaller than that of pEGFP-K562 group and K562 control group [(2.4±0.1) g vs (5.1±0.3) g and (5.7±0.4) g, both P ＜0.05; (11+2)mm vs (19+3) mm and (23+3) mm, both P ＜0.05]. More apoptosis cells were found in the pEGFP-C/EBPα-K562 group leukemic cells were found in the peripheral blood of leukemic models, and the proliferation of leukemic cells in the pEGFP-C/EBPo-K562 group were lower than that of other groups, accompany by the conspicuous cell differentiation. p53 was significantly elevated by RT-PCR, while down-regulated of c-myc.Conclusion Enhancer binding protein C/EBPα promote the apoptosis of cells and inhibit the proliferation of leukemia cells in leukemia mice, and further induce the cell differentiation. The inhibition of enhancer binding protein C/EBPα in the leukemia may have effect through the regulation of related genes.

OBJECTIVETo investigate the expression and the possible mechanism of the transcription factor C/EBPα in chronic myeloid leukemia（CML).

METHODSBone marrow samples from 50 CML patients（including 33 patients in chronic phase, 7 in accelerated phase and 10 in blast crisis）and peripheral blood specimens of 20 healthy donors were collected. The expression of C/EBPα gene and the effect of Imatinib on its expression was detected by RT- PCR. C/EBPα gene was inserted into lentivirus expression vector pLVX- EGFP- 3FLAG- Puro by recombinant DNA technology to construct C/EBPα stable expression in K562 cells. Cell proliferation was assayed by CCK-8. The expressions of Foxo3a and Bim genes were detected by RT-PCR.

RESULTSThe level of C/EBPα expression was significantly declined in CML patients compared with that of normal control group（P<0.01）and had negative correlation with bcr- abl expression（Spearman r=－ 0.505, P<0.01). The stable K562- C/EBPα cell line was successfully established and confirmed by RT-PCR and Western blot. Cell proliferation ability was lower in the K562- C/EBPα group than that in the non- transfection and mock-vehicle groups. The expressions of Foxo3a and Bim genes were 1.06 ± 0.06 and 0.53 ± 0.07, respectively, which was higher than that of nontransfection and mock-vehicle groups（P<0.01, P<0.05).

CONCLUSIONC/EBPα expression was decreased in CML patients, overexpression of C/EBPα could inhibit K562 cell growth.

Blast Crisis ; Bone Marrow ; CCAAT-Enhancer-Binding Protein-alpha ; metabolism ; Case-Control Studies ; Cell Cycle ; Cell Proliferation ; Humans ; Imatinib Mesylate ; K562 Cells ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; metabolism ; Transfection