SLCO1B1 &ApoE Gene Polymorphism Analysis of the Li People in Hainan Island and Its Clinical Significance

Objective: To analyze the distribution characteristics and clinical significance of SLCO1B1 and ApoE gene polymorphisms of the Li people in Hainan Island. Method: Selecting 502 high school students of the Li people from five cities and counties in Hainan Island (namely, Qiongzhong County, Dongfang City, Ledong County, Baoting County and Wuzhishan City) as research subjects in September, 2019;Applying PCR-fluorescence probe method to detect SLCO1B1 and ApoE genotypes of the Li people in Hainan Island, and statistically analyzing the distribution characteristics of gene frequency and the distribution differences in gene polymorphisms between different genders. Meanwhile, detecting the SLCO1B1 and ApoE gene of 527 people from the Han people in five regions mentioned before, so as to analyze the distribution differences of the SLCO1B1 and ApoE gene between the Han people and the Li people. Results: The frequency of each genotype of SLCO1B1 in the Li people in Hainan Island is: *1a/*1a 6.77%, *1a/*1b 27.09%, *1b/1b 41.63%, *1a/*5 0.00%, *1a/*15 4.78%, *1b/15 16.93%., *5/*5 0.00%, *5/*15 0.00%, *15/*15 2.79%;And that of ApoE is: e2/e2 0.40%, e2/e3 17.73%, e2/e4 2.39%, e3/e3 65.54%, e3/e4 12.55%, e4/e4 1.39%. There is no significant difference (P > 0.05) in other genotypes except weak metabolic genotypes (*5/*5, *5/*15 and *15/*15) between the Han and the Li peoples. Conclusion: The gene frequency of SLCO1B1 weak metabolic genotype is dramatically higher in the Li people of Hainan Island than that of the Han people in both Hainan Island and Central and South China, but there is no significant difference in ApoE gene frequency among them. Therefore, clinicians should adjust the dosage of statins and select the types of lipid-lowering drugs according to the differences in patients’ genotypes, and strengthen the management of patients with ApoE4 risk gene.

Mutation Analysis of STR Locus on 23 Autosomes in Hainan Population

[Objective] To analyze the mutation signature and regularity of STR locus on 23 autosomes in paternity testing cases in Hainan. [Methods] A total of 2715 paternity testing cases accepted by the Forensic Medical Identification Centre of our hospital from 2017 to 2020 derived from counties and cities in Hainan Province were collected, the cases containing gene mutations were selected, the mutation rate and details of each locus were counted, and the mutation regu-larity of 23 STR loci was analyzed. [Results] Of the 2715 cases identified as “support”, 1487 were triplet cases and 1640 were dyad cases, totaling 4614 meioses;There were 50 gene mutation events (including 17 triplet mutations and 33 dyad mutations), with an average mutation rate of 0.0047% and a cumulative mutation rate of 1.0837%. A total of 19 of the 23 STR loci were mutated, with a mutation rate of 0.1301% at the D12S391 locus and 0.0217% at five loci, TPOX, D1S1656, D2S441, D22S1045, and PentaD, while no muta-tion events were found at four loci, D19S433, TH01, D13S317, and D7S820. Of the 50 mutation events, 47 were one-step mutations, 1 was two-step, and 2 were three-step. There were 35 paternal mutations (13 triplets and 22 dyads), 6 maternal mutations (4 triplets and 2 dyads), and 9 indeterminate pater-nal/maternal mutations, with a paternal to maternal mutation ratio of 5.83:1. [Conclusion] The mutation rate of D12S391 locus is the highest, and the muta-tion rate of TPOX, D1S1656, D2S441, D22S1045 and PentaD loci is the lowest in Hainan population, and paternal mutations are more than maternal muta-tions. In the paternity test, if 1 - 3 STR loci do not conform to the genetic law, especially when the mutant locus is homozygous or the next of kin is identi-fied, it is necessary to use other kits to review and increase the number of loci or use the second-generation sequencing technology to confirm, carefully de-termine the mutation and ensure the accuracy of the identification conclusion.

Advances in the Correlation between Intestinal Microbiota and Breast Cancer Development

The intestinal microbiota has a symbiotic relationship with humans. It participates in some important physiological activities in the human body and has an important impact on human health. It has become a hot topic of research by scientists in recent years. Among them, the research on the correlation between intestinal microbiota and cancer has increased rapidly. At present, the incidence rate of breast cancer is increasing, which seriously endangers the health of women. More and more studies have found that the occurrence of breast cancer is related to intestinal microbiota, and its possible mechanism includes intestinal microbiota dysbiosis, estrogen metabolism changes, immune regulation, and the participation of intestinal microbiota metabolites, etc. With the further development of high-throughput sequencing technology, the research on the correlation between intestinal microbiota and breast cancer has become more in-depth, from a structural level confined to microorganisms to a more comprehensive system structure and function level. These research results provide a new research direction for the treatment of breast cancer. In order to further study the interaction between intestinal microbes and breast cancer, this article will comprehensively describe the intestinal microbiota and breast cancer from four aspects: intestinal microbial dysbiosis, altered estrogen metabolism, immune regulation, and intestinal microbial metabolites. It also reviews the application research of intestinal microbiota in breast cancer treatment, including the influence of intestinal microbiota on the effects of breast cancer radiotherapy and chemotherapy, probiotic therapy, and dietotherapy.

High Expression of hsMAD2 in the Villi of Spontaneously Aborted Embryo with Chromosomal Abnormality

Objective: To investigate the changes of hsMAD2 protein and gene expression levels during chromosome segregation of human embryos. Method: The embryos of spontaneous abortion were collected in our hospital from 2009 to 2013, the chromosomal numbers of the embryonic villi were subsequently detected by fluorescence in situ hybridization (FISH). The patients were then divided into the normal and abnormal groups based on the chromosome number. The hsMAD2 protein and gene expression levels in the villi tissues of the two embryo groups were detected by western blotting and qRT-PCR, respectively. The hsMAD2 protein and gene levels in the embryonic villus tissue of the patient were detected. Results: From 2009 to 2013, we collected 50 embryos from spontaneous abortion patients. The chromosome abnormality and no abnormality were 36 cases (abnormal number of 28 cases (56.0%) and chimerism in 8 cases (16.0%)) and 14 cases (28.0%), respectively. The expression of hsmad2 protein and its gene in the villi of spontaneously aborted embryo with chromosomal abnormality in the abnormal group was significantly higher than that in those without chromosomal abnormalities (0.88 ± 0.20 vs 0.61 ± 0.19, P < 0.05), (23.46 ± 0.07 vs 18.35 ± 0.10, P < 0.05). Conclusion: Abnormal number of chromosomes is closely related to spontaneous abortion Linked, hsMAD2 factor has a card effect on the cell cycle, can block the mitotic process of cells, and play an important role in maintaining the normal separation and stability of chromosomes.

Analysis of Clinical Characteristics and Diagnostic Value of Fungal Serology in Patients with Invasive Candidiasis

Objective: To evaluate the diagnostic value of (1 - 3)-β-D glucan and mannan assay for invasive candidiasis. Methods: A retrospective study was conducted on 32 cases in the disease group (18 proven invasive candidiasis and 14 probable invasive candidiasis) and 48 cases in the control group. The subjects were recruited from January 2018 to March 2019 in Clinical Laboratory of Hainan General Hospital. All subjects were detected by (1 - 3)-β-D glucan and mannan assay. Results: The mean concentration of (1 - 3)-β-D glucan in the disease group was 97.45 (43.23, 224.35) pg/ml and it was significantly higher than the mean concentration of the control group which was 49.85(41.91, 56.07) pg/ml (P = 0.005). The mean concentration of mannan in the disease group and the control group were 161.36 (34.96, 224.49) pg/ml and 25.80 (25.00, 29.31) pg/ml, respectively, which were significantly different (P < 0.001). The sensitivity, specificity, positive predictive value and negative predictive value of (1 - 3)-β-D glucan assay were 59.38%, 89.58%, 79.17%, 76.79%, respectively. The sensitivity, specificity, positive predictive value and negative predictive value of mannan assay were 65.63%, 95.83%, 91.30%, 80.70%, respectively. The sensitivity, specificity, positive predictive value and negative predictive value of combination of two types of assays were 81.25%, 85.42%, 78.79% and 87.23%, respectively. Conclusions: Combination of (1 - 3)-β-D glucan and mannan assay can improve diagnostic specificity and it has essential clinical diagnostic value for invasive candidiasis.