Gene Diagnosis and Analysis of Clinical Hematological Phenotype of Thailand Deleted α-Thalassemia 1 / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To investigate the hematologic characteristics and gene diagnosis of patients with Thailand deleted α-thalassemia 1, so as to provide the information for clinical genetic counseling.</p><p><b>METHODS</b>The clinical data of 32 patients with Thailand delated α-thalassemia 1 were analyzed retrospectively; the hematologic characteristics and gene diagnosis of Thailand deleted type were investigated by using routine hematologic examination, genetic detection of common thalassemia and Thailand deleted α-thalassemia 1.</p><p><b>RESULTS</b>Among 32 cases, the Thailand deleted α-thalassemia 1 heterozygote was found in 29 cases, the Thailand deleted α-thalassemia 1 and α(3.7) gene deletion double heterozygote were found in 1 case, the Thailand deleted α-thalassemia 1 with β-thalassemia (1 case with codons 41-42 mutation heterozygous, 1 case with CD17 mutation heterozygous) was found in 2 cases by detection. The MCV and MCH levels were decreased in all cases of Thailand deleted thalassemia 1, there were significant differences in RBC, MCV, MCH (P<0.05) between normal control and Thailand deletion α-thalassemia 1 group; there were also significant differences in MCHC (P<0.05) between Southeast asia thalassemia and Thailand deleted α-thalassemia 1 group.</p><p><b>CONCLUSION</b>There are no significant differences in hematological parameters except MCHC between Southeast asia thalassemia and Thailand deleted α-thalassemia 1 group. moreover the Thailand deleted α-thalassemia 1 in a certain proportion exists in area with high incidence of thalassemia, therefor the clinicians should pay more attention to the screen and diagnosis of Thailand delated α-thalassemia and can exactly diagnose the Thailand delected α-thalassemia 1 on the basis of comprehensive analysis of conventional and Thailand delected α-thalassemia 1 detection results, clinical presentation, hematologic parameters and ultrasonic examination, so as to avoid the birth of child with severe and intermidiate type α-thalassemia caused by Thailand deleted α-thalassemia 1.</p>

Mutation analysis of SMN gene in a patient and his family with spinal muscular atrophy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To perform mutation analysis and describe the genotype of the SMN gene in a patient with spinal muscular atrophy (SMA) and his family.</p><p><b>METHODS</b>Deletion analysis of the SMN1 exon 7 by conventional PCR-restriction fragment length polymorphism (RFLP) and allele-specific PCR, and gene dosage of SMN1 and SMN2 by multiplex ligation-dependent probe amplification (MLPA) were performed for the patient and his parents; reverse transcriptase (RT)-PCR and sequencing were performed for the patient. To determine whether the SMN variant was exclusive to transcripts derived from SMN1, the RT-PCR product of the patient was subcloned and multiple clones were sequenced directly; PCR of SMN exon 5 from the genomic DNA of the parents and direct sequencing were performed to confirm the mutation.</p><p><b>RESULTS</b>In SMN1 exon 7 deletion analysis, no homozygous deletion of the SMN1 was observed in the family; the gene dosage analysis by MLPA showed that the patient had 1 copy of SMN1 and 1 copy of SMN2 his father had 2 copies of SMN1 and 2 copies of SMN2, and his mother had 1 copy of SMN1 and no SMN2. A previously unreported missense mutation of S230L was identified from the patient and this mutation was also found in his father.</p><p><b>CONCLUSION</b>A novel missense mutation of S230L was identified in the SMA family and the genotype of the family members were investigated.</p>

Expression of gastrin in human gastric cancer cell line and effect of anti-gastrin mAb on the cell growth / 中华肿瘤杂志

<p><b>OBJECTIVE</b>To investigate the expression of gastrin in human gastric cancer cell line SGC-7901 and the effects of gastrin-17 and anti-gastrin mAb on its growth.</p><p><b>METHODS</b>The expression of gastrin was determined by immunohistochemistry with anti-gastrin mAb prepared by our group. In a series of experiments, the growth of SGC-7901 cells was evaluated by MTT assay on cells grown in serum-free medium and treated with gastrin-17 and/or anti-gastrin mAb.</p><p><b>RESULTS</b>Immunohistochemical examination of SGC-7901 cells revealed a specific gastrin immunoreactivity. Gastrin-17 significantly stimulated cell growth at the concentrations of 1 x 10(-9) mol/L approximately 1 x 10(-5) mol/L in a dose-dependent manner. The growth of SGC-7901 cells treated with anti-gastrin mAb, either alone or in combination with gastrin-17 (1 x 10(-7) mol/L), was significantly inhibited.</p><p><b>CONCLUSION</b>Growth of human gastric cancer cells SGC-7901 can be stimulated in an autocrine fashion. The gastrin-stimulated growth of gastric cancer cells can be blocked by anti-gastrin mAb bound specifically with gastrin. Further study on the significance of anti-gastrin mAb in designing immunotherapy targeting to gastrin or gastrin receptor is warranted.</p>

Maturation regulation of dendritic cells pulsed with hepatocellular carcinoma cell soluble antigens / 中华肝脏病杂志

<p><b>OBJECTIVE</b>To research the maturation regulation of dendritic cells (DCs) pulsed with hepatocellular carcinoma (HCC) cell soluble antigens.</p><p><b>METHODS</b>BCG HSP 70 was purified by SDS-PAGE electrophoresis and its biological activity was determined with ELISA. Phenotypes of DCs pulsed with antigens or with both antigens and BCG HSP 70 were analysed with flow cytometry. MTT assay was used to estimate the proliferation of self lymphocytes and the mixed lymphocyte reaction (MLR) of BCG HSP 70 primed DCs.</p><p><b>RESULTS</b>The characteristics of DCs had changed after loaded with soluble antigens of HCC. There were about 10% DCs which had lost their specific markers. The expression levels of CD54, CD83, CD86 molecules and the stimulatory ability in allogeneic MLR decreased. However, after being activated by BCG HSP 70, the DCs pulsed with antigens could keep their special markers and the expression levels of CD54, CD83, CD86 molecules increased too. The stimulatory abilities in allogeneic MLR and proliferation of self lymphocytes also improved.</p><p><b>CONCLUSION</b>This study shows that BCG HSP 70 can induce DCs pulsed with antigens maturation and improve their antigen-presenting ability, which may be a useful maturation inducer for dendritic cells.</p>

Study of fetal lymphocyte of intrahepatic cholestasis of pregnancy / 中华妇产科杂志

Objective To explore effect of fetal lymphocyte on pathogenesis of intrahepatic cholestasis of pregnancy(ICP).Methods Twenty pregnant women with ICP and 20 normal pregnant women were enrolled in the study.The single mixed lymphocyte culture/reaction(MLC/MLR)was conducted using inactive lymphocyte obtained from maternal peripheral blood and lymphocyte of cord blood from fetus.Antigen-induced-lymphocyte-proliferation-reaction was used for dermic soluble antigen and decidual soluble antigen obtained from maternal blood and cord blood from fetus.The intense of proliferation was calculated and compared between normal and ICP-complicated pregnancies.Results(1)The level of intense of proliferation of fetal lymphocyte was significantly increased in ICP group 2.75?0.36 than those of normal control group 1.45?0.19 in single mixed lymphocyte culture(P＜0.05).(2)The level of intense of proliferation of fetal lymphocyte was significantly increased in ICP group 1.45?0.19 than those of normal control group 0.67?0.24 in decidual soluble antigen induced lymphocyte proliferation reaction(P＜0.05). (3)The level of intense of proliferation of fetal lymphocyte was significantly increased in ICP group(1.22?0.44)than those of normal control group(0.66?0.27)in dermic soluble antigen induced lymphocyte proliferation reaction.Conclusions(1)The fetal lymphocyte may be one of the effector cells in pathogenesis of ICP.(2)The disturbance of fatal-maternal immune-tolerance is one of the important mechanisms underlying ICP.