ABSTRACT
Objective To investigate the relationship between the pathogenesis of leukemia and Flt3 gene by detecting the point mutations in juxtamembrane domain coding by Flt3. Methods The exons 14, 15 of Flt3 gene were detected using PCR, PCR/SSCP and gene sequence in 60 leukemia patients with peripheral blood and bone marrow samples. Results We found Flt3-L576P point mutation in 3 cases in juxtamembrane domain in 60 patients, including 1 patient had a deletion of intron 14. Conclusion Flt3-L576 was a new point mutation site, which way be associated with the pathogenesis and development of leukemia.
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AIM: To investigate p16 gene alterations in gastric carcinoma. METHODS: 36 fresh tumor specimens taken from gastric cancer patients were analyzed for p16 gene deletion and mutation by polymerase chain reaction (PCR) and DNA sequencing. RESULTS: Homozygous deletion of exon 1 and exon 3 was observed in 2 cases and 3 cases of diffuse carcinoma, respectively. The frequency of homozygous deletion was 13.89%. No p16 gene point mutation was detected. CONCLUSION: The deletion of p16 genes may be related to gastric carcinogenesis.
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AIM: To study the tumor metastasis-related genes expression in adenomyosis and normal endometrium in order to investigate the pathogenesis of adenomyosis. METHODS: 43 specimens of adenomyosis, 22 specimens of controls (normal endometrium) were studied. The expressions of nm23-H1, MMP-2, MMP-9, MT1-MMP, and TIMP-1 in adenomyosis and controls were detected by immunohistochemical method. RESULTS: The expression levels of MMP-2, MMP-9, and MT1-MMP in adenomyosis were significantly higher than those in controls ( P 0 05). CONCLUSION: MMP-2, MMP-9, especially MT1-MMP, maybe play an important role in the pathogenesis of adenomyosis.
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The ABCB4 gene,also called MDR3,encodes the MDR3 protein which is localized to the hepatocyte canalicular membrane and is demonstrated to be a phosphatidylcholine translocase.The recent study showed that ABCB4 deficiency was associated with several cholestatic disorders,but the pathogenesis is not clear.This review highlights recent advances in the structure and function of ABCB4 gene,and the relationship between ABCB4 gene and cholestatic diseases.