ABSTRACT
Objective:To analyze the mutation types and distribution characteristics of thalassemia gene among high-risk populations in Sanya City, and to evaluate the effectiveness of blood routine screening, in order to provide scientific basis for formulating measures for prevention and control of thalassemia in Sanya City.Methods:Retrospective analysis was used to collect detection results and clinical data from high-risk individuals who completed genetic screening for thalassemia at Sanya Materal and Child Health Hospital from January 2019 to August 2021. Mutation types and distribution characteristics of thalassemia gene were analyzed, and the missed detection rate and sensitivity of blood routine indicators [mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH)] were evaluated based on the results of genetic screening for thalassemia.Results:A total of 5 760 high-risk individuals were included in the screening results of thalassemia genes, and 3 868 samples of thalassemia gene mutations were detected, with a detection rate of 67.15%. Among them, there were 2 979 samples with α-thalassemia genetic mutations, with a detection rate of 51.72%; including 2 966 common genotype samples (99.56%), the main genotype was αα/-α 3.7 (20.14%, 600/2 979); 13 rare genotype samples (0.44%), 4 cases of αα/-- THAI, 3 cases of α CD40(AAG>AA-)α/αα, 2 cases of α PPα/αα, and 1 case of Fusion gene/αα, Fusion gene/α WSα, α WSα/α PPα, and α CD40(AAG>AA-)α/α WSα each. There were 340 samples with β-thalassemia gene mutations, with a detection rate of 5.90%; including 336 common genotype samples (98.82%). The β CD41/42/β N genotype was dominant (57.65%, 196/340); 4 rare genotype samples (1.18%), β CD5(-CT)/β N, β IVS-Ⅱ-2(-T)/β N, β IVS-Ⅱ-761(-T)/β N and β Initiation(ATG>AGG)/β N 1 case each. There were 549 samples of αβ-compound type thalassemia, with a detection rate of 9.53%. The α missing recombination β CD41/42 genotype was dominant (61.02%, 335/549). There were a total of 4 226 samples that could be traced back to MCV and MCH. Among them, 3 007 samples were found to have mutations in thalassemia genes through screening, 2 584 cases were found to have abnormalities in the combination of MCV and MCH indicators, and 423 samples were missed in blood routine screening, with a missed detection rate of 14.07% (423/3 007). The missed samples were mainly α static type, accounting for 89.13% (377/423) of the total missed samples. The screening sensitivity of MCV combined with MCH for α-, β- and αβ-compound type thalassemia was 82.65%, 98.07% and 98.15%, respectively. Conclusion:The types of genetic mutations in thalassemia in Sanya City are complex and diverse, and there are certain omissions in the blood routine screening of MCV combined with MCH.
ABSTRACT
Objective:To investigate the correlation of PELP1/MNAR expression with expressions of estrogen receptor (ER), Ki-67, human epidermal growth factor receptor 2 (HER2) and PIK3CA gene mutation.Methods:A total of 80 paraffin-embedded tissue specimens of primary invasive breast cancer patients in the Fifth People's Hospital of Datong in Shanxi Province from January 2008 to December 2018 were collected. The expression of PELP1/MNAR was examined by immunohistochemistry EliVision tow-step method. The polymerase chain reaction (PCR)-Sanger sequencing method was used to detect the mutation of PIK3CA gene. The expressions of PELP1/MNAR among patients with different expression status of ER, Ki-67, HER2 and with or without PIK3CA gene mutation were compared, and the correlations between each index and the expression of PELP1/MNAR were analyzed.Results:The high expression rates of PELP1/MNAR protein in patients with ER-positive [86.1% (31/36) vs. 59.1% (26/44)], Ki-67 high expression [100.0% (13/13) vs. 65.7% (44/67)], HER2-positive [81.0% (34/42) vs. 60.5% (23/38)] were high, and the differences were statistically significant (all P<0.05). There was no significant difference in the high expression rate of PELP1/MNAR protein between patients with mutant and wild-type PIK3CA [60.0% (12/20) vs. 75.0% (45/60), P = 0.199]. The expression of PELP1/MNAR was negatively correlated with the expression level of ER ( r = -0.195, P < 0.05), positively correlated with the expression level of Ki-67 ( r = 0.198, P < 0.05), positively correlated with the expression level of HER2 ( r = 0.225, P < 0.05), and negatively correlated with lymph node metastasis ( r = -0.269, P < 0.05). Conclusions:The expression of PELP1/MNAR in invasive breast cancer is negatively correlated with the expression level of ER, and positively correlated with the expression level of Ki-67 and HER2. There is no correlation between PELP1/MNAR expression and PIK3CA gene mutation, and the two may play their own role in the PI3K-AKT-mTOR regulatory pathway of breast cancer.
ABSTRACT
Objective:To study the influence of proteasome inhibitor lactacystin (LAC) and carboplatin in proliferation and apoptosis of the human ovarian cancer SKOV3 cells in vitro ,and to clarify the mechanisms. Methods:The SKOV3 ovarian cancer cells were cultured in vitro ;0,2.5,5.0,10.0 and 20.0 μmol· L-1 LAC were used to intervent the SKOV3 cells for 48 h;5 μmol·L-1 LAC was used to intervent the SKOV3 cells for 0, 24,48,and 72 h;the SKOV3 cells were divided into control group (treated without medical intervention),LAC group (treated with 5 μmol · L-1 LAC), carboplatin group (treated with 10, 20, 40 and 80 μmol · L-1 carboplatin),LAC and carboplatin group (treated with 5 μmol· L-1 LAC and 10,20,40,and 80 μmol· L-1 carboplatin,respectively).MTT method and FCM were used to detect the inhibitory rates of proliferation and apoptotic rates of the SKOV3 cells in various groups.Results:The MTT test results showed that the proliferation of the SKOV3 cells were inhibited with the prolongation of time and increasing of LAC concentration;the half inhibitory concentration (IC50 )of LAC at 48 h was 5.36 μmol · L-1 ;compared with carboplatin group,the inhibitory rates of proliferation of SKOV3 cells in LAC and carboplatin groups were significantly increased (P <0.05).The IC50 of carboplatin was dropped from 58.08 μmol·L-1 to 18.37 μmol·L-1 .The FCM results showed that with the prolongation of treated time of LAC,the apoptotic rates of SKOV3 cells were increased;compared with carboplatin group and LAC group,the apoptotic rate of cells in LAC and carboplatin group was increased (P <0.05).Conclusion:LAC can inhibit the proliferation of the ovarian cancer SKOV3 cells and induce the apoptosis, and LAC can enhance the inhibitory effect of proliferation of carboplatin on the ovarian cancer SKOV3 cells.
ABSTRACT
Objective To investigate the incidence of live births with Down syndrome(DS) in Sanya city as well as to discuss the related risk factors .Methods The object of investigation was the 25 032 infants who were born in Sanya city ,then the children with clinical suspected of DS were confirmed by peripheral blood chromosome analysis .Meanwhile ,the clinical data of children and their parents were collected ,calculating the incidence of DS in this region and analyzing the related risk factors .Results In this region , the total incidence of DS was 0 .959‰ ,the incidences in the Han nationality and Li nationality were 0 .834‰ ,1 .442‰ respectively . The mean age of DS children′s mother was 29 .8 years old ,and the incidence of DS increased as their mother grew older .Before pregnancy ,DS children′s mother who had an exposure history of toxicant and drugs accounted for 45 .8% .Conclusion The inci‐dence of DS in Sanya is quite high ,so it is extremely essential to strengthen the women′s pregnancy Down syndrome screening and improve the prenatal diagnosis in this region .
ABSTRACT
Objective To investigate the clinical significance of C?- erbB?- 3, C?- erbB?- 4 and C?- erbB?- 2 in breast cancer. Methods By LSAB immunohistochemical staining, the expressions of C?- erbB?- 3, C?- erbB?- 4 and C?- erbB?- 2 were investigated from 44 patients with breast cancer. Results There was positive correlation between C?- erbB?- 3, C?- erbB?- 4, C?- erbB?- 2 and histologic grade (P
ABSTRACT
PGF2. What we observsd suggests that PGE2 has the ability to inhibit the decidual cells directly; neither the contraction of the uterus nor the metabolism of estrogen or progestogen may be responsible for this effect. This inhibitory effect of PGE2 on decidual cells may be one of the mechanisms for the termination of the early pregnancy.