Objective To analyze the MTHFR C677T gene polymorphism and homocysteine in women in early pregnancy in Ordos region,to clarify the distribution characteristics of MTHFR C677T gene polymor-phism and the correlation between the two,and to provide genetic basis for scientific guidance on folic acid supplementation during pregnancy and prevention of birth defects.Methods A total of 602 Han women in early pregnancy who were registered and underwent early pregnancy examinations in the gynecology clinic of Ordos Central Hospital from September 2022 to September 2023 were selected as the research subjects.Blood samples were collected from all research objects.MTHFR C677T gene polymorphism was detected by using PCR chip hybridization,and homocysteine level was detected by biochemical enzyme circulation method.Sta-tistical analysis of MTHFR C677T locus genotype and allele frequency,as well as their correlation with homo-cysteine was conducted.Results The detection frequencies of MTHFR C677T gene polymorphism CC,CT,and TT types were 23.6%,47.5%,and 28.9%,respectively.The detection frequencies of alleles C and T were 47.3%and 52.7%,respectively.There were statistically significant differences compared to Han women in Shanghai,Wenzhou,Meishan,Nanning,and other regions(P<0.05),but there was no statistically significant difference compared to Han women in Xi'an(P>0.05).The serum homocysteine level of pregnant women with TT genotype was higher than that of pregnant women with CC and CT genotypes,while the serum ho-mocysteine level of pregnant women with CT genotype was higher than that of pregnant women with CC gen-otype(P<0.05).The CT and TT genotypes of MTHFR C677T were both risk factors for hyperhomocys-teinemia in women in early pregnancy in this region,the risk was 2.80 and 8.07 times higher than that of the CC genotype,respectively,and the differences were statistically significant(P<0.05).Conclusion The distri-bution of MTHFR C677T gene polymorphism Han women in early pregnancy in Ordos region has regional characteristics and is correlated with homocysteine level.Developing personalized folic acid supplementation plans based on different genotypes during pregnancy is of great significance for preventing birth defects.

The many-banded krait, Bungarus multicinctus, has been recorded as the animal resource of JinQianBaiHuaShe in the Chinese Pharmacopoeia. Characterization of its venoms classified chief phyla of modern animal neurotoxins. However, the evolutionary origin and diversification of its neurotoxins as well as biosynthesis of its active compounds remain largely unknown due to the lack of its high-quality genome. Here, we present the 1.58 Gbp genome of B. multicinctus assembled into 18 chromosomes with contig/scaffold N50 of 7.53 Mbp/149.8 Mbp. Major bungarotoxin-coding genes were clustered within genome by family and found to be associated with ancient local duplications. The truncation of glycosylphosphatidylinositol anchor in the 3'-terminal of a LY6E paralog released modern three-finger toxins (3FTxs) from membrane tethering before the Colubroidea divergence. Subsequent expansion and mutations diversified and recruited these 3FTxs. After the cobra/krait divergence, the modern unit-B of β-bungarotoxin emerged with an extra cysteine residue. A subsequent point substitution in unit-A enabled the β-bungarotoxin covalent linkage. The B. multicinctus gene expression, chromatin topological organization, and histone modification characteristics were featured by transcriptome, proteome, chromatin conformation capture sequencing, and ChIP-seq. The results highlighted that venom production was under a sophisticated regulation. Our findings provide new insights into snake neurotoxin research, meanwhile will facilitate antivenom development, toxin-driven drug discovery and the quality control of JinQianBaiHuaShe.

OBJECTIVE: To perform carrier screening for spinal muscular atrophy (SMA) among 3049 reproductive-age individuals from Yunnan region and determine the copy number of survival motor neuron (SMN) gene and carrier frequencies. METHODS: Multiplex ligation-dependent probe amplification (MLPA) was used to determine the copy number of exon 7 of SMN1 and SMN2 genes and identify those with a single copy of SMN1 gene. Prenatal diagnosis was performed for couples whom were both found to be SMA carriers. RESULTS: In total 62 SMA carriers were identified among the 3049 subjects, which yielded a carrier frequency of 1 in 49 (2.03%). No statistical difference was found in the carrier frequency between males and females (1.91% vs. 2.30%, P>0.05). Respectively, 1.3% (41/3049) and 0.69% (21/3049) of the carriers were caused by heterozygous deletion and conversion of the SMN1 gene. The average copy number for SMN1 alleles was 1.99. Two couples were found to be both as SMA carriers, for whom the birth of an affected fetus was avoided by prenatal diagnosis. CONCLUSION No difference was found in the carrier frequency of SMA-related mutations between the two genders in Yunnan region, which was in keeping to an autosomal recessive inheritance pattern. Determination of the carrier frequency for SMA and SMN gene variants may provide a basis for genetic counseling and prenatal diagnosis for the disease.
China ; Female ; Genetic Carrier Screening ; Genetic Counseling ; Genetic Variation ; Heterozygote ; Humans ; Male ; Muscular Atrophy, Spinal ; genetics ; Pregnancy ; Prenatal Diagnosis ; Survival of Motor Neuron 1 Protein ; genetics ; Survival of Motor Neuron 2 Protein ; genetics

Objective: In this study, we used HepG2 human hepatocellular carcinoma cells to study the effects of Compound Xishu Granule (CXG) on cell proliferation, apoptosis, and the cell cycle in vitro. We also used a xenograft tumor model to study the anti-tumor effects of CXG and related mechanisms in vivo.Methods: The effect of CXG on cell viability was measured using Cell Counting Kit-8 and a colony for-mation assay. The effect of CXG on apoptosis and the cell cycle was analyzed using flow cytometry. The in vivo anti-tumor effect of CXG was assessed by measuring the volume change in xenograft tumors after drug administration. The CXG anti-tumor mechanism was studied using western blotting assay to detect cell cycle and apoptotic associated proteins. Results: CXG suppressed HepG2 cell proliferation in a time-and dose-dependent manner in vitro. Colony formation experiments showed that CXG administration for 24 h significantly reduced HepG2 cell for-mations (P<.01). Flow cytometric analysis showed that CXG treatment for 48 h promoted apoptosis and blocked HepG2 cells in the G2/M phase. Western blotting results showed that Bax was significantly up-regulated and Bcl-2 was down-regulated in graft tumor tissues and HepG2 cells after CXG administra-tion, which increased the Bax/Bcl-2 ratio. PLK1, CDC25C, CDK1, and Cyclin B1 expression were up-regulated. CXG had a good inhibitory effect on graft tumor growth in vivo. Conclusion: CXG has good anti-tumor effects in vitro and in vivo. In vitro, CXG promoted HepG2 cell apoptosis and induced G2/M phase arrest. In vivo, CXG significantly inhibited graft tumor growth. The CXG mechanism in treating hepatocellular carcinoma may be that CXG can induce abnormal apoptotic and cell cycle associated protein expression, leading to mitotic catastrophe and apoptosis.

Objective: To explore the mechanism and influencing factors of mirror-image artifact of color blood flow (MACBF) due to longitudinal strong echo big interface (LSEBI). Methods: Fifty suspicious patients with MACBF beside the main pulmonary artery and/or the left pulmonary artery undergoing echocardiography examination from November 2018 to April 2019 in Shengjing Hospital of China Medical University were chosen as the subjects. Image characteristics of the MACBF were observed, and mechanism and influence factors of the MACBF were explored with Doppler imaging principle. Results: Of all the subjects with MACBF, 36 subjects occurred only on the left side of the main pulmonary artery, 14 subjects occurred on both the left side of the main pulmonary artery and the left pulmonary artery. The LSEBI was found between the real color blood flow (RCBF) and the MACBF, there was a mirror relationship between the RCBF and the MACBF. The LSEBI on the left of the main pulmonary artery and the left pulmonary artery were the interface of the left lung and pleural. The signal strength of MACBF enhanced as the distance between the blood flow and the LSEBI got closer or the gain of the color blood flow got bigger. Conclusions MACBF may caused by LSEBI beside vessel. The formation of MACBF and its signal strength are influenced by the distance between blood flow and LSEBI and the gain of the color blood flow.

The widespread application of next generation sequencing (NGS) in clinical settings has enabled testing, diagnosis, treatment and prevention of genetic diseases. However, many issues have arisen in the meanwhile. One of the most pressing issues is the lack of standards for reporting genetic test results across different service providers. The First Forum on Standards and Specifications for Clinical Genetic Testing was held to address the issue in Shenzhen, China, on October 28, 2017. Participants, including geneticists, clinicians, and representatives of genetic testing service providers, discussed problems of clinical genetic testing services across in China and shared opinions on principles, challenges, and standards for reporting clinical genetic test results. Here we summarize expert opinions presented at the seminar and report the consensus, which will serve as a basis for the development of standards and guidelines for reporting of clinical genetic testing results, in order to promote the standardization and regulation of genetic testing services in China.

Objective To explore the gender heterogeneity of depression and thyroid hormone and homocysteine levels in infertile patients.Methods Totally 250 patients with infertility were selected in Tangshan Maternal and Child Health Care Hospital affiliated to North China University of Science and Technology from December 2015 to April 2017.The Self-Rating Depression Scale(SDS) was used to evaluated the patients's depression.The patients with infertility and depression were divided into infertility and depression group,and the patients with infertility but without depression were infertile and non-depressed group,patients with infertility and depression were divided into male infertility and depression group and female infertility group with depression,and the levels of thyroid hormone and homocysteine were measured respectively.Results ①The thyroid stimulating hormone and homocysteine levels in infertility patients with depression were significantly higher than those without depression ((2.045± 1.253) uIU/ml,(2.412± 1.236) uIU/ml,t=-2.287,P=0.023;(15.411 ±9.143) mmol/L,(19.129± 13.087) mmol/L,t=-2.467,P=0.014).②There was no statistically significant difference in the degree of depression between male and female infertility patients (x2=0.483,P=0.785).③ The levels of triodothyronine,thyroxine and homocysteine in male infertility patients with depression were significantly higher than those in female patients ((1.926±0.648)nmol/L,(1.712 ±0.416) nmol/L,t=2.457,P=0.015;(117.86± 19.311) nmol/L,(110.185± 18.999) nmol/L,t=2.434,P=0.016;(15.575±4.139) mmol/L,(12.277±3.921) mmol/L,t=4.982,P＜0.01),and the TSH was lower than that in the female group((2.496± 1.329) uIU/ml,(3.057± 1.583) uIU/ml,t=-2.303,P=0.023).④The TSH and Hcy levels of male and female infertility patients were significantly positively correlated with SDS indexes,and had a significant positive predictive power to SDS score.Conclusion The levels of thyroid hormone and homocysteine are different in gender in infertile patients with depression,and the thyroid hormone and homocysteine are related to the depression.so we should pay attention to the depression symptoms of infertility patients and the changes of their biological levels,especially the gender heterogeneity.

OBJECTIVETo identify potential mutation of COL1A1 gene in an ethnic Han Chinese family from Henan affected with osteogenesis imperfecta (OI).

METHODSPeripheral blood samples were collected from all 11 members of the family and 50 healthy adults for the extraction of genomic DNA. All exons and introns of the COL1A1 gene were amplified by polymerase chain reaction and subjected to direct sequencing. Mutations found in the proband were analyzed through comparison with other members of the family, 50 healthy individuals and sequence from the GenBank.

RESULTSFifteen sequence variants were discovered, which included 1 missense mutation, 1 synonymous mutation and 13 intronic mutations. All of the 4 patients from the family were detected as having carried a novel heterozygous missense mutation (c.4193T>G, p.I1398S) in exon 50 of the COL1A1 gene. The father of the proband has carried the same mutation but had a normal phenotype. The same mutation was not found in other healthy members of the family.

CONCLUSIONThe OI type of this family may have been autosomal dominant with incomplete penetrance or autosomal recessive associated with COL1A1 gene mutations.

Adolescent ; Amino Acid Sequence ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Collagen Type I ; genetics ; DNA Mutational Analysis ; Family Health ; Female ; Genetic Predisposition to Disease ; ethnology ; genetics ; Heterozygote ; Humans ; Male ; Mutation ; Osteogenesis Imperfecta ; ethnology ; genetics ; Pedigree ; Penetrance ; Sequence Homology, Amino Acid ; Young Adult

Grounding impedance measurement is a traditional proficiency testing programs, 2014 proficiency testing program on the basis of original ability to verify, combined with actual detection need, innovation introduced two verification point of the power input socket and metal plane testing. This paper analyzes and discusses the results of the ability verification in 2014, and puts forward the points of attention and the recommended method of metal plane test.
Laboratories ; standards ; Laboratory Proficiency Testing

Grounding impedance measurement is a traditional proficiency testing programs, 2014 proficiency testing program on the basis of original ability to verify, combined with actual detection need, innovation introduced two verification point of the power input socket and metal plane testing. This paper analyzes and discusses the results of the ability verification in 2014, and puts forward the points of attention and the recommended method of metal plane test.