Mutations in pre-core and basic core promoter regions of hepatitis B virus in chronic hepatitis B patients

AIM: To investigate the frequency of mutations in precore(pre-C) and basic core promoter(BCP) regions of hepatitis B virus(HBV) from Shanxi Province, and the association between mutations and disease related indexes.METHODS: One hundred chronic hepatitis B patients treated at Shanxi Province Hospital of Traditional Chinese Medicine were included in this study. PCRreverse dot blot hybridization and mismatch amplification mutation assay(MAMA)-PCR were used to detect the mutations in the HBV pre-C and BCP regions. HBV DNA content and liver function were compared between patients with mutant HBV pre-C and BCP loci and those with wild-type loci. The consistency between PCR-reverse dot blot hybridization and MAMA-PCR for detecting mutations in the HBV pre-C and BCP regions was assessed.RESULTS: Of the 100 serum samples detected, 9.38% had single mutations in the pre-C region, 29.17% had single mutations in the BCP region, 41.67% had mutations in both BCP and pre-C regions, and 19.79% had wild-type loci. The rates of BCP and pre-C mutations were 65.7% and 34.3%, respectively, in hepatitis B e antigen(HBe Ag) positive patients, and 84.6% and 96.2%, respectively, in HBe Ag negative patients. The rate of pre-C mutations was significantly higher in HBe Ag negative patients than in HBe Ag positive patients(χ~2 = 26.62, P = 0.00), but there was no significant difference in the distribution of mutations in the BCP region between HBeAg positive and negative patients(χ~2 = 2.43, P = 0.12). The presence of mutations in the pre-C(Wilcoxon W = 1802.5, P = 0.00) and BCP regions(Wilcoxon W = 2906.5, P = 0.00) was more common in patients with low HBV DNA content. Both AST and GGT were significantly higher in patients with mutant pre-C and BCP loci than in those with wild-type loci(P < 0.05). PCR-reverse dot blot hybridization and MAMA-PCR for detection of mutations in the BCP and pre-C regions had good consistency, and the Kappa values obtained were 0.91 and 0.58, respectively.CONCLUSION: HBe Ag negative patients tend to have HBV pre-C mutations. However, these mutations do not cause increased DNA copies, but associate with damage of liver function.

Studies on Genetic Transformation of Fresh-cut Chrysanthemum Using DREB1A Promoted by Stress-induced Promoter rd29A

In this study, DERB1A transcription factor and stress-induced promoter rd29A were isolated respectively and amplified from Arabidopsis thaliana, se- quenced and analyzed by DNAsis. In addition, the stress-induced promoter rd29A was utilized to construct the plant expression vector of DERB1A, which was transformed into Agrobacterium tumefaciens. Furthermore, the transgenic regeneration system of fresh-cut chrysanthemum from callus to plantlets was established successfully. On this basis, chrysanthemum leaf-disc explants were genetically transformed with Agrobacterium-mediated method. Two positive transgenie plantlets were obtained in vitro. Based on PCR detection, DREB1A transcription factor was integrated into chrysanthemum genome, which laid the foundation for breeding new transgenie cultivars of fresh-cut chrysanthemum with high comprehensive stress resistance, good cmalitv and high field.

Association of Genetic Variation in the Promoter Region of OXTR with Differences in Social Affective Neural Processing

Evidence supports the involvement of oxytocin in social behavior. The oxytocin receptor gene (OXTR) has been associated with differences in social brain function and risk for autism. Motivated by recent work, we investigated the effect of variation in the common functional rs2268498 T/C polymorphism in the promoter region of OXTR on neural responses to fear expressions. 46 healthy subjects were divided into genotype groups of C carriers (n = 32) and TT ho-mozygous (n = 14) and neural activity was measured during the recognition of fear and neutral expressions. Results showed that during the recognition of fear expressions, the TT genotype group exhibited increased responding in the inferior occipital gyrus, considered important for face processing, compared to carriers of the C allele (P < 0.005;cluster corrected for whole brain), an effect not found for neutral faces. These results indicate the impact of this OXTR genetic variant on individual differences in social affective neural processing.

Evaluation of Uncertainty in Measuring the Content of CaM V35S Promoter in Genetically Modified Soybean,GTS40-3-2,by Real-time Quantitative PCR

[ Objective ] This study aimed to investigate the major contributors to the measurement uncertainty in quantitative analysis of genetically modified ingreclients and improve the quality of quantitative detection of genetically modified components. [ Method] The content of CaMV35S promoter （parameter） in GTS40- 3-2 soybean powder samples was measured to estimate the measurement uncertainty preliminarily. [ Result] Type A uncertainty （uA） ＇ type B uncertainty （uB） and combined standard uncertainty （Uc） were 0.0 004, 0.002 and 0.002, respectively. At a confidence level ofp = 95% and freedom degree of Voff = 3 251, coverage factor k = 1.96, expanded uncertainty U = 0.004. The final measurement result was C = 0.028 ± 0. 004, which was dose to the conventional true value （0.03）. Thus, the measurement uncertainty was relatively small, indicating a high quality of measurement. In this study, uncertainty evaluation indicated that the deviation of micro liquid transfer made the greatest contribution to the measurement uncertainty. [ Cludusion ] The deviation of micro liquid transfer should be reduced to im- prove the quality of measurement.

Population Genetic Analysis of Sillago nigrofasciata (Perciformes:Sillaginidae) Along the Coast of China by Sequencing Mitochondrial DNA Control Region

Sillago nigrofasciata, a small to moderate size nearshore species, is newly found along the eastern and southern coasts of China. The present study is carried out in order to analyze the population genetics of the S. nigrofasciata. The control region sequence of mitochondrial DNA revealing 73 haplotypes were obtained from 162 individuals collected at 8 locations along the coast of China. The whole S. nigrofasciata population along the coast of China showed a low nucleotide diversity(0.012) and a high population diversity(haplotype diversity)(0.943), and all the 8 local populations showed low nucleotide diversities(0.014 – 0.001), suggesting the protective measures are effective. The haplotypes of the 8 local populations were widely distributed in haplotype network diagram and neighbor-joining phylogenetic tree, while no branch associating with sampling locations was detected. Recent gene flow analysis showed asymmetric gene exchanges among local populations. The pairwise FST values and unweighted pair-group method with arithmetic mean(UPGMA) tree revealed a certain amount of genetic difference among local populations. Moreover, analysis of molecular variance(AMOVA) reflected genetic differences between hypothetical subdivision groups. Neutral test and mismatch distribution of pairwise nucleotide suggested S. nigrofasciata may have experienced recent population expansion events. The historical geographic events associating with ice age may be the main explanation to the heterogeneity among local populations with short geographic distances, and the homogeneity among local populations with long geographic distances.

The Genetic Structure and Diversity of Repomucenus curvicornis Inhabiting Liaoning Coast Based on Mitochondrial COⅠ Gene and Control Region

[Object] This study was conducted to explore the genetic diversity and structure of the wild Repomucenus curvicornis inhabiting Liaoning Coast, China. [Method] The mitochondrial COⅠ gene and control region（CR） were PCR amplified from the wild R. curvicornis populations from the Liaodong Bay（n=22） and the northern Yellow Sea（n=18）, sequenced and analyzed for genetic diversity. [Result] The contents of A, T, C and G of 624 bp COⅠ gene were 24.09%, 31.04%, 25.28%, and 19.59%, and those of 460 bp CR fragment were 32.96%, 32.80%, 14.86% and 19.38%, respectively. The total number of variable sites, average number of nucleotide differences（ k）, haplotype diversity（H） and nucleotide diversity（π） based on COⅠ gene were 38, 4.67,（0.96±0.02） and（0.007 5±0.004 2）, and those based on CR fragment were 26, 3.35,（0.97 ±0.02） and（0.007 3±0.004 3）, respectively. Based on mitochondrial COⅠ gene and CR, the genetic diversity of Liaodong Bay population was lower than that of the northern Yellow Sea population. The AMOVA analysis based on CR fragments revealed almost significant genetic divergence between the Liaodong Bay and the northern Yellow Sea populations, while there was no significant genetic divergence based on COⅠ gene. The results showed that CR and COⅠ gene are effective molecular markers for detecting the genetic diversity of R. curvicornis population, while CR is more reliable than COⅠ gene in detecting the genetic structure. [Conclusion] CR is an appropriate marker for genetic analysis of marine fish population.

A preliminary investigation on genetic diversity of Sousa chinensis in the Pearl River Estuary and Xiamen of Chinese waters

In this study, the mitochondrial DNA （mtDNA） control region and the mitochondrial cytochrome b gene of stranded Indo-Pacific humpback dolphin （Sousa chinensis） samples from the Pearl River Estuary and Xiamen waters were sequenced and analyzed. The result of mtDNA control region revealed 34 variable sites and four unique haplotypes （named as A, B, C and D） identified among the total samples from these two water areas, and the most common haplotype （A） was shared by 75% of the dolphins sampled from the two water areas. The haplotypic diversity （h） was 0.455 and the nucleodde diversity （π） was 0.0088. The phylogenetic analysis showed that the haplotype A, C, and D were closely related, but the haplotype B （unique for XM01 from Xiamen） was far from the other three. By scanning cytochrome b fragments, two haplotypes （A and B） were identified in these two water areas, and the most common haplotype （A） was shared by 91.67% individuals, while XM01 from Xiamen as the only exception. The data suggest that there is a possibility of gene exchange between the two populations in the Pearl River Estuary and Xiamen waters, and there possibly exists a unique maternal lineage in Xiamen waters.

Shallow Genetic Structure of Pholis fangi in Bohai Sea and Yellow Sea Inferred from mt DNA Control Region

Pholis fangi is an ecologically important fish species inhabiting Chinese coastal waters of Yellow Sea and Bohai Sea. To investigate the genetic diversity and population genetic structure of P. fangi, a fragment of 487 bp in the first hypervariable region (HVR-1) of the mitochondrial DNA (mtDNA) control region was sequenced for 181 individuals collected from Bohai Sea and Yel- low Sea. A total of 18 polymorphic sites were detected, which defined 25 haplotypes. A moderate level of haplotype diversity (h = 0.7052) and a low level of nucleotide diversity (π= 0.0028) were detected. Both the phylogenetic tree and the haplotype network showed no significant genealogical structure difference among sampling locations. Pairwise FST comparison and hierarchical mo- lecular variance analysis (AMOVA) revealed that no significant genetic structure difference existed throughout the investigated re- gions, suggesting a high gene exchange among different populations. The results of neutrality test and mismatch distribution analysis indicated that a late Pleistocene population expansion (38000 127000 years ago) happened. Seasonal schooling migration may con- tribute to the genetically homogeneous population structure of the species.

A Method for Upscaling Genetic Parameters of CERES-Rice in Regional Applications

To upscale the genetic parameters of CERES-Rice in regional applications, Jiangsu Province, the second largest rice producing province in China, was taken as an example. The province was divided into four rice regions with different rice variety types, and five to six sites in each region were selected. Then the eight genetic parameters of CERES-Rice, particularly the four parameters related to the yield, were modified and validated using the Trial and Error Method and the local statistical data of rice yield at a county level from 2001 to 2004, combined with the regional experiments of rice varieties in the province as well as the local meteorological and soil data （Method 1）. The simulated results of Method 1 were compared with those of other three traditional methods upscaling the genetic parameters, i.e., using one-site experimental data from a local representative rice variety （Method 2）, using local long-term rice yield data at a county level after deducting the trend yield due to progress of science and technology （Method 3）, and using rice yield data at a super scale, such as provincial, ecological zone, country or continent levels （Method 4）. The results showed that the best fitness was obtained by using the Method 1. The coefficients of correlation between the simulated yield and the statistical yield in the Method 1 were significant at 0.05 or 0.01 levels and the root mean squared error （RMSE） values were less than 9% for all the four rice regions. The method for upscaling the genetic parameters of CERES-Rice presented is not only valuable for the impact studies of climate change, but also favorable to provide a methodology for reference in crop model applications to the other regional studies.

Inter-and Intra-specific Genetic Diversity in Diospyros Using SCoT and IRAP Markers

The genus Diospyros contains more than 500 species, among them persimmon(Diospyros kaki Thunb.) is the most economically important species. However, the inter-and intra-specific genetic diversity remains unknown due to historic cultivation, domestication and introduction in different regions of China. In this study, we investigated the genetic diversity and relationship among 268 Diospyros accessions from different regions in China using start codon-targeted(SCo T) and inter-retrotransposon-amplified polymorphism(IRAP) markers. Among 268 samples,232 accessions were D. kaki varieties and 36 were closely related species, that is, D. lotus(21), D. glaucifolia(1), D. virginiana(5), D. kaki Thunb.var. silvestris(3), D. oleifera(5) and D. deyangnsis(1). In our study, a total of 90 and 97 polymorphic alleles were obtained from nine SCo T and nine IRAP markers, respectively, and these markers displayed rich polymorphisms for evaluation of the genetic diversity among 268 samples. A study on the relationship, genetic structure and analysis of molecular variance(AMOVA) showed that inter-and intra-specific gene exchanges were frequent among/within the samples from five regions. Moreover, the genetic distance between the Southwest China(SWC) and the other regions was relatively far;the samples from North China(NC), East China(EC), South and Central China(SCC), Northwest China(NWC) regions had a relatively close relationship. The unweighted pair group method with arithmetic means(UPGMA) and population structure analysis indicated that persimmons within geographic regions were clustered together, which revealed that the samples from various regions exhibited gene exchange, and the geographical proximity of persimmons resulted in a more frequent exchange. In addition, the persimmon had a close relationship with D. kaki var. silvestris, D. deyangnsis and D. oleifera species, and exhibited a far distance with respect to D. virginiana. These SCo T and IRAP markers will be helpful for understanding of the inter-and intra-specific genetic diversity of Diospyros germplasms, which play an important role in the germplasm efficient conservation, identification and utilization for Diospyros resources.

A genetic diversity comparison between captive individuals and wild individuals of Elliot’s Pheasant (Syrmaticus ellioti) using mitochondrial DNA

Maintaining genetic diversity is a major issue in conservation biology. In this study, we demonstrate the differences of genetic diversity levels between wild and captive individuals of Elliot’s Pheasant Syrmaticus ellioti. Wild individuals showed a higher genetic diversity level than that of the captive individuals. Nucleotide diversity and haplotype diversity of wild individuals were 0.00628 and 0.993, while those of captive individuals were 0.00150 and 0.584 respectively. Only 3 haplotypes of mtDNA control region sequence were identified among 36 captive individuals, while 16 unique haplotypes were identified among the 17 wild individuals in this study. One captive haplotype was shared by a wild individual from Anhui Province. It is concluded that a low number of founders was the likely reason for the lower level genetic diversity of the captive group. Careful genetic man- agement is suggested for captive populations, particularly of such an endangered species, to maintain genetic variability levels.

Satellite Constellation Design with Multi-Objective Genetic Algorithm for Regional Terrestrial Satellite Network

Constellations design for regional terrestrial-satellite network can strengthen the coverage for incomplete terrestrial cellular network. In this paper, a regional satellite constellation design scheme with multiple feature points and multiple optimization indicators is proposed by comprehensively considering multi-objective optimization and genetic algorithm, and "the Belt and Road" model is presented in the way of dividing over 70 nations into three regular target areas. Following this, we formulate the optimization model and devise a multi-objective genetic algorithm suited for the regional area with the coverage rate under simulating, computing and determining. Meanwhile, the total number of satellites in the constellation is reduced by calculating the ratio of actual coverage of a single-orbit constellation and the area of targets. Moreover, the constellations' performances of the proposed scheme are investigated with the connection of C++ and Satellite Tool Kit(STK). Simulation results show that the designed satellite constellations can achieve a good coverage of the target areas.

Population genetic structure of the mantis shrimp Oratosquilla oratoria(Crustacea:Squillidae)in the Yellow Sea and East China Sea

The mantis shrimp O ratosquilla oratoria is an ecologically and economically important species in the Western Pacific. In present study, the population genetic structure of O ratosquilla oratoria from the Yellow Sea and East China Sea was examined with mitochondrial DNA control region sequences. In total, 394 samples were collected from 18 locations and 102 haplotypes were obtained. For the Yellow Sea, the overall nucleotide diversity and haplotype diversity were 0.006 9 and 0.946 8, respectively; while across all the East China Sea locations, the overall nucleotide diversity and haplotype diversity were 0.027 94 and 0.979 0, respectively. The results of AMOVA and pairwise F_(ST)(0.145 2, P <0.001) revealed moderate differentiation between the Yellow Sea and East China Sea populations of O. oratoria. However, neither the neighbor-joining tree nor haplotype network showed clades with geographic pattern, which indicated considerable gene flow was existed between the Yellow Sea and East China Sea, and supporting the high larval dispersal ability in this species. Mismatch distribution analysis and neutrality tests suggested that O. oratoria has undergone population expansion event, and the Pleistocene glacial cycles might have an impact on the historical demography of O. oratoria. The genetic information obtained in this study can provide useful information for sustainable improvements for capture fisheries management strategies.

Advances in the Identification of Genetically Modified Rice with Real-time PCR and Multiplex PCR

In recent years, food security and safety have attracted increasing attention due to the worldwide research and development of genetically modified （GM） rice, and the controversy over the commercialization of GM rice. And the identification of GM rice is of great significance. Therefore, in the present study, the po- tential problems in the identification of GM rice with PCR were analyzed both at a technical level and from a theoretical perspective. In addition, PCR detection on the transgenic elements： promoter, terminator, internal reference gene and target gene was discussed, respectively. The possible solutions were proposed based on the principles of plant virology and genetic engineering.

Pre-stack seismic waveform inversion based on adaptive genetic algorithm

Pre-stack waveform inversion, by inverting seismic information, can estimate subsurface elastic properties for reservoir characterization, thus effectively guiding exploration. In recent years, nonlinear inversion methods, such as standard genetic algorithm, have been extensively adopted in seismic inversion due to its simplicity, versatility, and robustness. However, standard genetic algorithms have some shortcomings, such as slow convergence rate and easiness to fall into local optimum. In order to overcome these problems, the authors present a new adaptive genetic algorithm for seismic inversion, in which the selection adopts regional equilibrium and elite retention strategies are adopted, and adaptive operators are used in the crossover and mutation to implement local search. After applying this method to pre-stack seismic data, it is found that higher quality inversion results can be achieved within reasonable running time.

A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China

Background Newborn screening(NBS)is an important and successful public health program that helps improve the long-term clinical outcomes of newborns by providing early diagnosis and treatment of certain inborn diseases.The develop-ment of next-generation sequencing(NGS)technology provides new opportunities to expand current newborn screening methodologies.Methods We designed a a newborn genetic screening(NBGS)panel targeting 135 genes associated with 75 inborn disorders by multiplex PCR combined with NGS.With this panel,a large-scale,multicenter,prospective multidisease analysis was conducted on dried blood spot(DBS)profiles from 21,442 neonates nationwide.Results We presented the positive detection rate and carrier frequency of diseases and related variants in different regions;and 168(0.78%)positive cases were detected.Glucose-6-Phosphate Dehydrogenase deficiency(G6PDD)and phenylketonuria(PKU)had higher prevalence rates,which were significantly different in different regions.The positive detection of G6PD variants was quite common in south China,whereas PAH variants were most commonly identified in north China.In addi-tion,NBGS identified 3 cases with DUOX2 variants and one with SLC25A13 variants,which were normal in conventional NBS,but were confirmed later as abnormal in repeated biochemical testing after recall.Eighty percent of high-frequency gene carriers and 60%of high-frequency variant carriers had obvious regional differences.On the premise that there was no significant difference in birth weight and gestational age,the biochemical indicators of SLC22A5 c.1400C>G and ACADSB c.1165A>G carriers were significantly different from those of non-carriers.Conclusions We demonstrated that NBGS is an effective strategy to identify neonates affected with treatable diseases as a supplement to current NBS methods.Our data also showed that the prevalence of diseases has significant regional charac-teristics,which provides a theoretical basis for screening diseases in different regions.

Genetic map construction and functional characterization of genes within the segregation distortion regions(SDRs)in the F_(2:3) populations derived from wild cotton species of the D genome

Background:Segregation distortion(SD)is a common phenomenon among stable or segregating populations,and the principle behind it still puzzles many researchers.The F2:3 progenies developed from the wild cotton species of the D genomes were used to investigate the possible plant transcription factors within the segregation distortion regions(SDRs).A consensus map was developed between two maps from the four D genomes,map A derived from F2:3 progenies of Gossypium klotzschianum and G.davidsonii while Map B from G.thurberi and G.trilobum F2:3 generations.In each map,188 individual plants were used.Results:The consensus linkage map had 1492 markers across the 13 linkage groups with a map size of 1467.445 cM and an average marker distance of 1.0370 cM.Chromosome D502 had the highest percentage of SD with 58.6%,followed by Chromosome D507 with 47.9%.Six thousand and thirty-eight genes were mined within the SDRs on chromosome D502 and D507 of the consensus map.Within chromosome D502 and D507,2308 and 3730 genes were mined,respectively,and were found to belong to 1117 gourp out of which 622 groups were common across the two chromosomes.Moreover,genes within the top 9 groups related to plant resistance genes(R genes),whereas 188 genes encoding protein kinase domain(PF00069)comprised the largest group.Further analysis of the dominant gene group revealed that 287 miRNAs were found to target various genes,such as the gra-miR398,gramiR5207,miR164a,miR164b,miR164c among others,which have been found to target top-ranked stress-responsive transcription factors such as NAC genes.Moreover,some of the stress-responsive cis-regulatory elements were also detected.Furthermore,RNA profiling of the genes from the dominant family showed that higher numbers of genes were highly upregulated under salt and osmotic stress conditions,and also they were highly expressed at different stages of fiber development.Conclusion:The results indicated the critical role of the SDRs in the evolution of the key regulatory genes in plants.

Dissecting the key genomic regions underlying high yield potential in common wheat variety‘Kenong 9204’

The foundation parents play key roles in the genetic improvement of both yield potential and end-use quality in wheat.Characterizing the genetic basis that underlies certain beneficial traits in the foundation parents will provide theoretical reference for molecular breeding by a design approach.‘Kenong 9204’(KN9204)is a candidate foundation parent characterized by ideotype,high yield potential,and particularly high nitrogen fertilizer utilization.To better understand the genetic basis of its high yield potential,high throughput whole-genome re-sequencing(10×)was performed on KN9204,its parental lines and its derivatives.A high-resolution genetic composition map of KN9204 was constructed,which showed the parental origin of the favorable genomic segments based on the identification of excellent yield-related quantitative trait loci(QTL)from a bi-parental mapping population.Xiaoyan 693(XY693),a wheat–Thinopyrum ponticum partial amphidiploid,contributed a great deal to the high yield potential of KN9204,and three major stable QTLs from XY693 were fine mapped.The transmissibility of key genomic segments from KN9204 to its derivatives were delineated,indicating that haplotype blocks containing beneficial gene combinations were conserved along with directional selection by breeders.Evidence for selection sweeps in the breeding programs was identified.This study provides a theoretical reference for the breeding of high-yield wheat varieties by a molecular design approach.

地方保护政策对中国新能源汽车市场推广的影响分析

加快建设全国统一大市场对推动中国新能源汽车产业发展具有重要意义,而各地频发的地方保护现象却成为阻碍新能源汽车市场推广的主要因素。以2010—2021年中国28个省(市、区)新能源汽车推广数量的面板数据作为研究样本,分析了地方保护政策对新能源汽车市场规模和市场占比的影响,以及产品市场发育程度在其中的调节和门槛效应。研究结果表明,地方保护政策对新能源汽车市场规模扩大和市场占比提升均有显著的抑制作用,产品市场发育程度在该影响过程中具有调节性作用,地方保护政策对市场规模的作用受到产品市场发育程度单一门槛效应的影响,而对市场占比的作用则受双重门槛效应的影响,呈现出先促进后抑制的倒“U”型特征。进一步研究显示,地方保护政策通过加深能源市场分割阻碍了新能源汽车市场推广。区域异质性表明,东部地区的地方保护政策对新能源汽车市场推广有显著的抑制作用,而中西部地区的保护政策则有助于市场规模的扩大;在有新能源汽车上市企业母公司的地区,地方保护政策的抑制作用更为明显;而在没有此类企业的地区,其抑制作用相对较弱。研究结论为打破中国新能源汽车产业中的地方保护主义、推动产业可持续发展提供了决策参考。

鄂尔多斯地区妊娠早期女性MTHFR C677T基因多态性与同型半胱氨酸的关系分析

目的 通过对鄂尔多斯地区妊娠早期女性MTHFR C677T基因多态性与同型半胱氨酸进行分析,明确MTHFR C677T基因多态性分布特点及二者之间的相关性,为科学指导妊娠期叶酸补充及预防出生缺陷提供遗传学依据。方法 选取2022年9月至2023年9月在鄂尔多斯市中心医院妇科门诊建档并进行妊娠早期检查的602例汉族妊娠早期女性作为研究对象,所有患者采集血液标本,采用PCR芯片杂交法检测MTHFR C677T基因多态性、生化酶循环法检测同型半胱氨酸水平,统计分析MTHFR C677T位点基因型与等位基因频率及与同型半胱氨酸的关系。结果 MTHFR C677T基因多态性CC、CT和TT型的检出频率分别为23.6%、47.5%、28.9%,等位基因C、T的检出频率分别为47.3%和52.7%,与上海、温州、眉山、南宁等地区汉族女性相比差异均有统计学意义(P<0.05),但与西安地区汉族女性相比差异均无统计学意义(P>0.05)。TT基因型孕妇血清同型半胱氨酸水平均高于CC和CT基因型孕妇,CT基因型孕妇血清同型半胱氨酸水平高于CC基因型孕妇(P<0.05)。MTHFR C677 T位点CT和TT基因型均为该地区妊娠早期女性发生高同型半胱氨酸血症的危险因素,分别为CC基因型的2.80倍和8.07倍,且差异均有统计学意义(P<0.05)。结论 鄂尔多斯汉族妊娠早期女性MTHFR C677T基因多态性分布具有地区特点,且与同型半胱氨酸水平有一定联系,妊娠期根据不同基因型制订个性化的叶酸补充方案对于预防出生缺陷具有重要意义。