Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review.

BACKGROUND: Copy number variation (CNV) of X chromosome can lead to a variety of neonatal abnormalities, especially for male fetuses. In recent years, due to the high sensitivity and high specificity of NIPS, its application has gradually expanded from chromosome aneuploidy to CNV. Few prenatal cases involving the detection of Xq duplication and deletion by NIPS have been reported, but it is of great significance for genetic counseling. CASE PRESENTATION: A 36-year-old woman was referred for prenatal diagnosis and genetic counseling at 17 weeks of gestation because of abnormal result of noninvasive prenatal screening (NIPS). Multiple congenital malformations, hydrocephalus, and enlarged gallbladder were observed by prenatal ultrasound. Amniocentesis revealed the karyotype of the fetus as 46, XN, add(X) (p22.2) and the result of chromosomal microarray analysis was arr[hg19] Xq27.1q28(138,506,454-154896094) × 2 and arr[hg19] Xp22.33p22.32(168,551-5,616,964) × 1. CNV-seq showed that the mother shares a 16.42 Mb duplication in the Xq27.1-q28 region and a 2.97 Mb deletion in the Xp22.33-p22.32 region. After genetic counseling, the couple chose to terminate the pregnancy. CONCLUSION: The combination of NIPS and CMA would be of values in detection of subchromosomal duplications and/or deletions at fetal stage. The detection of X chromosome aberration in a male fetus should give suspicion of the possibility of maternal inheritance.

Effect of Pleurotus eryngii mycelial fermentation on the composition and antioxidant properties of tartary buckwheat.

In this study, we investigated the effect of solid-state fermentation of Pleurotus eryngii on the composition and antioxidant activity of Tartary buckwheat (TB). Firstly, the solid-state fermentation of P. eryngii mycelium with buckwheat was carried out, and the fermentation process was explored. The results of the extraction process and method selection experiments showed that the percolation extraction method was superior to the other two methods. The results of extraction rate, active components and antioxidant activity measurements before and after fermentation of TB extract showed that the extraction rate increased about 1.7 times after fermentation. Total flavonoids, rutin and triterpene contents were increased after fermentation compared to control. Meanwhile, LC-MS results showed an increase in the content of the most important substances in the fermented TB extract and the incorporation of new components, such as oleanolic acid, ursolic acid, amino acids, and D-chiral inositol. The fermented TB extract showed stronger antioxidant activity, while the protein and amino acid contents increased by 1.93-fold and 1.94-fold, respectively. This research was the first to use P. eryngii to ferment TB and prepared a lyophilized powder that could be used directly using vacuum freeze-drying technology. Not only the use of solid-state fermentation technology advantages of edible fungi to achieve value-added buckwheat, but also to broaden the scope of TB applications. This study will provide ideas and directions for the development and application of edible mushroom fermentation technology and TB.

Genome-Wide Characterization of Calmodulin and Calmodulin-like Protein Gene Families in Paulownia fortunei and Identification of Their Potential Involvement in Paulownia Witches' Broom.

As significant Ca2+ sensors, calmodulin (CaM) and calmodulin-like proteins (CML), have been associated with a variety of environmental conditions in plants. However, whether CaMs/CMLs are related to the stress of phytoplasma infection has not been reported in Paulownia fortunei. In the current study, 5 PfCaMs and 58 PfCMLs were detected through a genome-wide investigation. The number of EF-hand motifs in all PfCaMs/CMLs varied. Bioinformatics analyses, including protein characteristics, conserved domain, gene structure, cis-elements, evolutionary relationship, collinearity, chromosomal location, post-translation modification site, subcellular localization and expression pattern analyses, represented the conservation and divergence of PfCaMs/CMLs. Furthermore, some PfCaMs/CMLs might be involved in plants' reaction to phytoplasma infection and exogenous calcium therapy, indicating these genes may play a role in abiotic as well as biotic stress responses. In addition, subcellular localization analysis showed that PfCML10 was located in the cell membrane and nucleus. In summary, these findings establish a stronger platform for their subsequent functional investigation in trees and further characterize their roles in Paulownia witches' broom (PaWB) occurrence.

Recent developments in modification of biochar and its application in soil pollution control and ecoregulation.

Soil pollution has become a real threat to mankind in the 21st century. On the one hand, soil pollution has reduced the world's arable land area, resulting in the contradiction between the world's population expansion and the shortage of arable land. On the other hand, soil pollution has seriously disrupted the soil ecological balance and significantly affected the biodiversity in the soil. Soil pollutants may further affect the survival, reproduction and health of humans and other organisms through the food chain. Several studies have suggested that biochar has the potential to act as a soil conditioner and to promote crop growth, and is widely used to remove environmental pollutants. Biochar modified by physical, chemical, and biological methods will affect the treatment efficiency of soil pollution, soil quality, soil ecology and interaction with organisms, especially with microorganisms. Therefore, in this review, we summarized several main biochar modification methods and the mechanisms of the modification and introduced the effects of the application of modified biochar to soil pollutant control, soil ecological regulation and soil nutrient regulation. We also introduced some case studies for the development of modified biochars suitable for different soil conditions, which plays a guiding role in the future development and application of modified biochar. In general, this review provides a reference for the green treatment of different soil pollutants by modified biochar and provides data support for the sustainable development of agriculture.

The first two mitochondrial genomes for the genus Ramaria reveal mitochondrial genome evolution of Ramaria and phylogeny of Basidiomycota.

In the present study, we assembled and analyzed the mitogenomes of two Ramaria species. The assembled mitogenomes of Ramaria cfr. rubripermanens and R. rubella were circularized, with sizes of 126,497 bp and 143,271 bp, respectively. Comparative mitogenome analysis showed that intron region contributed the most (contribution rate, 43.74%) to the size variations of Ramaria mitogenomes. The genetic contents, gene length, tRNAs, and codon usages of the two Ramaria mitogenomes varied greatly. In addition, the evolutionary rates of different core protein coding genes (PCGs) in Phallomycetidae mitogenomes varied. We detected large-scale gene rearrangements between Phallomycetidae mitogenomes, including gene displacement and tRNA doubling. A total of 4499 bp and 7746 bp aligned fragments were detected between the mitochondrial and nuclear genomes of R. cfr. rubripermanens and R. rubella, respectively, indicating possible gene transferring events. We further found frequent intron loss/gain and potential intron transfer events in Phallomycetidae mitogenomes during the evolution, and the mitogenomes of R. rubella contained a novel intron P44. Phylogenetic analyses using both Bayesian inference (BI) and Maximum Likelihood (ML) methods based on a combined mitochondrial gene dataset obtained an identical and well-supported phylogenetic tree for Basidiomycota, wherein R. cfr. rubripermanens and Turbinellus floccosus are sister species. This study served as the first report on mitogenomes from the genus Ramaria, which provides a basis for understanding the evolution, genetics, and taxonomy of this important fungal group.

Recent Developments in Surface-Enhanced Raman Spectroscopy and Its Application in Food Analysis: Alcoholic Beverages as an Example.

Surface-enhanced Raman spectroscopy (SERS) is an emerging technology that combines Raman spectroscopy and nanotechnology with great potential. This technology can accurately characterize molecular adsorption behavior and molecular structure. Moreover, it can provide rapid and sensitive detection of molecules and trace substances. In practical application, SERS has the advantages of portability, no need for sample pretreatment, rapid analysis, high sensitivity, and 'fingerprint' recognition. Thus, it has great potential in food safety detection. Alcoholic beverages have a long history of production in the world. Currently, a variety of popular products have been developed. With the continuous development of the alcoholic beverage industry, simple, on-site, and sensitive detection methods are necessary. In this paper, the basic principle, development history, and research progress of SERS are summarized. In view of the chemical composition, the beneficial and toxic components of alcoholic beverages and the practical application of SERS in alcoholic beverage analysis are reviewed. The feasibility and future development of SERS are also summarized and prospected. This review provides data and reference for the future development of SERS technology and its application in food analysis.

Comparative Mitogenomic Analysis Reveals Intraspecific, Interspecific Variations and Genetic Diversity of Medical Fungus Ganoderma.

Ganoderma species are widely distributed in the world with high diversity. Some species are considered to be pathogenic fungi while others are used as traditional medicine in Asia. In this study, we sequenced and assembled four Ganoderma complete mitogenomes, including G. subamboinense s118, G. lucidum s37, G. lingzhi s62, and G. lingzhi s74. The sizes of the four mitogenomes ranged from 50,603 to 73,416 bp. All Ganoderma specimens had a full set of core protein-coding genes (PCGs), and the rps3 gene of Ganoderma species was detected to be under positive or relaxed selection. We found that the non-conserved PCGs, which encode RNA polymerases, DNA polymerases, homing endonucleases, and unknown functional proteins, are dynamic within and between Ganoderma species. Introns were thought to be the main contributing factor in Ganoderma mitogenome size variation (p < 0.01). Frequent intron loss/gain events were detected within and between Ganoderma species. The mitogenome of G. lucidum s26 gained intron P637 in the cox3 gene compared with the other two G. lucidum mitogenomes. In addition, some rare introns in Ganoderma were detected in distinct Basidiomycetes, indicating potential gene transfer events. Comparative mitogenomic analysis revealed that gene arrangements also varied within and between Ganoderma mitogenomes. Using maximum likelihood and Bayesian inference methods with a combined mitochondrial gene dataset, phylogenetic analyses generated identical, well-supported tree topologies for 71 Agaricomycetes species. This study reveals intraspecific and interspecific variations of the Ganoderma mitogenomes, which promotes the understanding of the origin, evolution, and genetic diversity of Ganoderma species.

Chinese Baijiu: The Perfect Works of Microorganisms.

Chinese Baijiu is one of the famous distilled liquor series with unique flavors in the world. Under the open environment, Chinese Baijiu was produced by two solid-state fermentation processes: jiuqu making and baijiu making. Chinese Baijiu can be divided into different types according to the production area, production process, starter type, and product flavor. Chinese Baijiu contains rich flavor components, such as esters and organic acids. The formation of these flavor substances is inseparable from the metabolism and interaction of different microorganisms, and thus, microorganisms play a leading role in the fermentation process of Chinese Baijiu. Bacteria, yeasts, and molds are the microorganisms involved in the brewing process of Chinese Baijiu, and they originate from various sources, such as the production environment, production workers, and jiuqu. This article reviews the typical flavor substances of different types of Chinese Baijiu, the types of microorganisms involved in the brewing process, and their functions. Methods that use microbial technology to enhance the flavor of baijiu, and for detecting flavor substances in baijiu were also introduced. This review systematically summarizes the role and application of Chinese Baijiu flavor components and microorganisms in baijiu brewing and provides data support for understanding Chinese Baijiu and further improving its quality.

Phosphate mining activities affect crop rhizosphere fungal communities.

Phosphate mining releases heavy metals into the surrounding environment. In this study, the effects of phosphate mining on rhizosphere soil fungi in surrounding crops, including Lactuca sativa var. angustata, Glycine max (L.) Merr., and Triticum aestivum L., were assessed. Phosphate mining significantly reduced the crop rhizosphere fungal diversity (P < 0.05). The relative abundances of Fusarium and Epicoccum increased in mining rhizosphere soil compared with the baseline. Beta diversity analysis indicated that phosphate mining led to the differentiation of fungal community structure in plant rhizospheres. Guild analysis indicated that different plant rhizosphere fungi developed various guilds in response to phosphate mining stress. Nine fungi were isolated from soil samples, with solubilization index values ranging from 1.1 to 2.5. Two efficient phosphate solubilizers, Epicoccum nigrum and Fusarium verticillioides, were enriched in phosphate mining rhizosphere soil samples. The dissolution kinetics of inorganic phosphorus and alkaline phosphatase activity assay showed strong phosphorus dissolution ability of the isolated fungi. Penicillium aculeatum, Trichoderma harzianum, Chaetomium globosum, and F. verticillioides showed strong tolerance to multiple heavy metals. This study furthers our understanding of how rhizosphere fungal ecology is affected by phosphate mining and provides important resources for the remediation of phosphate mining soil pollution.

First two mitochondrial genomes for the order Filobasidiales reveal novel gene rearrangements and intron dynamics of Tremellomycetes.

In the present study, two mitogenomes from the Filobasidium genus were assembled and compared with other Tremellomycetes mitogenomes. The mitogenomes of F. wieringae and F. globisporum both comprised circular DNA molecules, with sizes of 27,861 bp and 71,783 bp, respectively. Comparative mitogenomic analysis revealed that the genetic contents, tRNAs, and codon usages of the two Filobasidium species differed greatly. The sizes of the two Filobasidium mitogenomes varied greatly with the introns being the main factor contributing to mitogenome expansion in F. globisporum. Positive selection was observed in several protein-coding genes (PCGs) in the Agaricomycotina, Pucciniomycotina, and Ustilaginomycotina species, including cob, cox2, nad2, and rps3 genes. Frequent intron loss/gain events were detected to have occurred during the evolution of the Tremellomycetes mitogenomes, and the mitogenomes of 17 species from Agaricomycotina, Pucciniomycotina, and Ustilaginomycotina have undergone large-scale gene rearrangements. Phylogenetic analyses based on Bayesian inference and the maximum likelihood methods using a combined mitochondrial gene set generated identical and well-supported phylogenetic trees, wherein Filobasidium species had close relationships with Trichosporonales species. This study, which is the first report on mitogenomes from the order Filobasidiales, provides a basis for understanding the genomics, evolution, and taxonomy of this important fungal group.

Method and mechanism of chromium removal from soil: a systematic review.

Heavy metal pollution has increasingly affected human life, and the treatment of heavy metal pollution, especially chromium pollution, is still a major problem in the field of environmental governance. As a commonly used industrial metal, chromium can easily enter the environment with improperly treated industrial waste or wastewater, then pollute soil and water sources, and eventually accumulate in the human body through the food chain. Many countries and regions in the world are threatened by soil chromium pollution, resulting in the occurrence of cancer and a variety of metabolic diseases. However, as a serious threat to agriculture, food, and human health. Notwithstanding, there are limited latest and systematic review on the removal methods, mechanisms, and effects of soil chromium pollution in recent years. Hence, this article outlines some of the methods and mechanisms for the removal of chromium in soil, including physical, chemical, biological, and biochar methods, which provide a reference for the treatment and research on soil chromium pollution drawn from existing publications.

The effect of phosphate mining activities on rhizosphere bacterial communities of surrounding vegetables and crops.

The effects of phosphate mining on rhizosphere bacteria in surrounding vegetables and crops, including Lactuca sativa, Glycine max, and Triticum aestivum, are assessed in this study. As results, phosphate mining significantly increased the contents of some large elements, trace elements, and heavy metals in the surrounding agricultural soil, including phosphorus, magnesium, boron, cadmium, lead, arsenic, zinc, and chromium (P < 0.05). The community richness and diversity of bacteria in rhizosphere of the three crops were significantly reduced by phosphate mining (P < 0.05). Abundances of Sphingomonas and RB41 in the rhizosphere soil of phosphate mining area improved compared with the baseline in the non-phosphate mining area. Beta diversity analysis indicated that phosphate mining led to the differentiation of bacterial community structure in plant rhizospheres. Bacterial metabolic analysis indicated that different plant rhizosphere microbial flora developed various metabolic strategies in response to phosphate mining stress, including enriching unsaturated fatty acids, antibiological transport systems, cold shock proteins, etc. This study reveals the interaction between crops, rhizosphere bacteria, and soil pollutants. Select differentiated microbial strains suitable for specific plant rhizosphere environments are necessary for agricultural soil remediation. Additionally, the problem of destruction of agricultural soil and microecology caused by phosphate mining must be solved.

Similarity and Potential Relation Between Periimplantitis and Rheumatoid Arthritis on Transcriptomic Level: Results of a Bioinformatics Study.

Background: This bioinformatics study aimed to reveal potential cross-talk genes, related pathways, and transcription factors between periimplantitis and rheumatoid arthritis (RA). Methods: The datasets GSE33774 (seven periimplantitis and eight control samples) and GSE106090 (six periimplantitis and six control samples) were included from the National Center for Biotechnology Information (NCBI) Gene Expression Omnibus (GEO). A differential expression analysis (p < 0.05 and |logFC (fold change)| ≥ 1) and a functional enrichment analysis (p < 0.05) were performed. Based on this, a protein-protein interaction (PPI) network was constructed by Cytoscape. RA-related genes were extracted from DisGeNET database, and an overlap between periimplantitis-related genes and these RA-related genes was examined to identify potential cross-talk genes. Gene expression was merged between two datasets, and feature selection was performed by Recursive Feature Elimination (RFE) algorithm. For the feature selection cross-talk genes, support vector machine (SVM) models were constructed. The expression of these feature genes was determined from GSE93272 for RA. Finally, a network including cross-talk genes, related pathways, and transcription factors was constructed. Results: Periimplantitis datasets included 138 common differentially expressed genes (DEGs) including 101 up- and 37 downregulated DEGs. The PPI interwork of periimplantitis comprised 1,818 nodes and 2,517 edges. The RFE method selected six features, i.e., MERTK, CD14, MAPT, CCR1, C3AR1, and FCGR2B, which had the highest prediction. Out of these feature genes, CD14 and FCGR2B were most highly expressed in periimplantitis and RA. The final activated pathway-gene network contained 181 nodes and 360 edges. Nuclear factor (NF) kappa B signaling pathway and osteoclast differentiation were identified as potentially relevant pathways. Conclusions: This current study revealed FCGR2B and CD14 as the most relevant potential cross-talk genes between RA and periimplantitis, which suggests a similarity between RA and periimplantitis and can serve as a theoretical basis for future research.

The first complete mitochondrial genome of mushroom Leucoagaricus naucinus (Agaricaceae, Agaricales) and insights into its phylogeny.

Leucoagaricus naucinus (Fr.) Singer is a mycorrhizal fungus widely distributed in the northern Hemisphere. In the present study, the complete mitochondrial genome of Leucoagaricus naucinus was sequenced, assembled, and annotated. The L. naucinus mitochondrial genome was composed of circular DNA molecules, with the total size of 61,434 bp. The GC content of the L. naucinus mitochondrial genome was 26.07%. A total of 30 protein-coding genes (PCGs), two ribosomal RNA (rRNA) genes, and 26 transfer RNA (tRNA) genes were detected in the L. naucinus mitochondrial genome. Phylogenetic analysis based on combined mitochondrial gene dataset indicated that the L. naucinus exhibited a close relationship with Agaricus bisporus.

The first complete mitochondrial genome of edible and medicinal fungus Chroogomphus rutilus (Gomphidiaceae, Boletales) and insights into its phylogeny.

In the present study, we assembled and annotated the complete mitochondrial genome of Chroogomphus rutilus. The complete mitochondrial genome of C. rutilus was composed of circular DNA molecules, with a size of 37,508 bp. The GC content of the C. rutilus mitogenome was 22.82%. A total of 18 protein-coding genes (PCGs), 2 ribosomal RNA (rRNA) genes, and 24 transfer RNA (tRNA) genes were detected in the C. rutilus mitogenome. Phylogenetic analysis based on combined mitochondrial gene dataset indicated that the C. rutilus exhibited a close relationship with species from the genus Rhizopogon. This study served as the first report on the complete mitochondrial genome from the family Gomphidiaceae, which will promote the understanding of phylogeny, evolution, and taxonomy of this important fungal species.

Characterization of the Complete Mitochondrial Genome of Basidiomycete Yeast Hannaella oryzae: Intron Evolution, Gene Rearrangement, and Its Phylogeny.

In this study, the mitogenome of Hannaella oryzae was sequenced by next-generation sequencing (NGS) and successfully assembled. The H. oryzae mitogenome comprised circular DNA molecules with a total size of 26,444 bp. We found that the mitogenome of H. oryzae partially deleted the tRNA gene transferring cysteine. Comparative mitogenomic analyses showed that intronic regions were the main factors contributing to the size variations of mitogenomes in Tremellales. Introns of the cox1 gene in Tremellales species were found to have undergone intron loss/gain events, and introns of the H. oryzae cox1 gene may have different origins. Gene arrangement analysis revealed that H. oryzae contained a unique gene order different from other Tremellales species. Phylogenetic analysis based on a combined mitochondrial gene set resulted in identical and well-supported topologies, wherein H. oryzae was closely related to Tremella fuciformis. This study represents the first report of mitogenome for the Hannaella genus, which will allow further study of the population genetics, taxonomy, and evolutionary biology of this important phylloplane yeast and other related species.

The mitogenomes of two saprophytic Boletales species (Coniophora) reveals intron dynamics and accumulation of plasmid-derived and non-conserved genes.

The order Boletales is a group of fungi with complex life styles, which include saprophytic and ectomycorrhizal mushroom-forming fungi. In the present study, the complete mitogenomes of two saprophytic Boletales species, Coniophora olivacea, and C. puteana, were assembled and compared with mitogenomes of ectomycorrhizal Boletales. Both mitogenomes comprised circular DNA molecules with sizes of 78,350 bp and 79,655 bp, respectively. Comparative mitogenomic analysis indicated that the two saprophytic Boletales species contained more plasmid-derived (7 on average) and unknown functional genes (12 on average) than the four ectomycorrhizal Boletales species previously reported. In addition, the core protein coding genes, nad2 and rps3, were found to be subjected to positive selection pressure between some Boletales species. Frequent intron gain/loss events were detected in Boletales and Basidiomycetes, and several novel intron classes were found in two Coniophora species. A total of 33 introns were detected in C. olivacea, and most were found to have undergone contraction in the C. olivacea mitogenome. Mitochondrial genes of Coniophora species were found to have undergone large-scale gene rearrangements, and the accumulation of intra-genomic repeats in the mitogenome was considered as one of the main contributing factors. Based on combined mitochondrial gene sets, we obtained a well-supported phylogenetic tree for 76 Basidiomycetes, demonstrating the utility of mitochondrial gene analysis for inferring Basidiomycetes phylogeny. The study served as the first report on the mitogenomes of the family Coniophorineae, which will help to understand the origin and evolution patterns of Boletales species with complex lifestyles.

The first eleven mitochondrial genomes from the ectomycorrhizal fungal genus (Boletus) reveal intron loss and gene rearrangement.

In the present study, eleven novel complete mitogenomes of Boletus were assembled and compared. The eleven complete mitogenomes were all composed of circular DNA molecules, with sizes ranging from 32,883 bp to 48,298 bp. The mitochondrial gene arrangement of Boletus varied greatly from other Boletales mitogenomes, and gene position reversal were observed frequently in the evolution of Boletus. Across the 15 core protein-coding genes (PCGs) tested, atp9 had the least and rps3 had the largest genetic distances among the eleven Boletus species, indicating varied evolution rates of core PCGs. In addition, the Ka/Ks value for nad3 gene was >1, suggesting that this gene was subject to possible positive selection pressure. Comparative mitogenomic analysis indicated that the intronic region was significantly correlated with the size of mitogenomes in Boletales. Two large-scale intron loss events were detected in the evolution of Boletus. Phylogenetic analyses based on a combined mitochondrial gene dataset yielded a well-supported (BPP ≥ 0.99; BS =100) phylogenetic tree for 72 Agaricomycetes, and the Boletus species had a close relationship with Paxillus. This study served as the first report on complete mitogenomes in Boletus, which will further promote investigations of the genetics, evolution and phylogeny of the Boletus genus.

The 287,403 bp Mitochondrial Genome of Ectomycorrhizal Fungus Tuber calosporum Reveals Intron Expansion, tRNA Loss, and Gene Rearrangement.

In the present study, the mitogenome of Tuber calosporum was assembled and analyzed. The mitogenome of T. calosporum comprises 15 conserved protein-coding genes, two rRNA genes, and 14 tRNAs, with a total size of 287,403 bp. Fifty-eight introns with 170 intronic open reading frames were detected in the T. calosporum mitogenome. The intronic region occupied 69.41% of the T. calosporum mitogenome, which contributed to the T. calosporum mitogenome significantly expand relative to most fungal species. Comparative mitogenomic analysis revealed large-scale gene rearrangements occurred in the mitogenome of T. calosporum, involving gene relocations and position exchanges. The mitogenome of T. calosporum was found to have lost several tRNA genes encoding for cysteine, aspartate, histidine, etc. In addition, a pair of fragments with a total length of 32.91 kb in both the nuclear and mitochondrial genomes of T. calosporum was detected, indicating possible gene transfer events. A total of 12.83% intragenomic duplications were detected in the T. calosporum mitogenome. Phylogenetic analysis based on mitochondrial gene datasets obtained well-supported tree topologies, indicating that mitochondrial genes could be reliable molecular markers for phylogenetic analyses of Ascomycota. This study served as the first report on mitogenome in the family Tuberaceae, thereby laying the groundwork for our understanding of the evolution, phylogeny, and population genetics of these important ectomycorrhizal fungi.

Subhaplogroup D4b1 enhances the risk of cervical cancer initiation: A case-control study in southern China.

AIM: To investigate whether mitochondrial DNA (mtDNA) background (haplogroup) is associated with cervical cancer in patients in southern China. METHODS: A case-control study of 150 patients with cervical cancer and 217 geographically matched controls was conducted in Wenzhou, a southern Chinese city in the Zhejiang province. DNA from peripheral blood was extracted and sequenced. Sequences were aligned to the mtDNA revised Cambridge Reference Sequence (GenBank number NC_012920) to determine mtDNA single nucleotide polymorphisms (SNPs) and haplogroups. RESULTS: We found that both M and N haplogroups and their diagnostic SNPs (A10398G and C10400T) are not associated with the risk of cervical cancer. However, individuals with haplogroup D4b1/D4b1*, an M subhaplogroup, exhibited an increased risk of cervical cancer (odds ratio [OR] = 1.034; 95% confidence interval [CI] 1.004, 1.066; P = 0.011/OR =1.027; 95% CI 1.001, 1.055; P = 0.027). Individuals with SNPs C10181T/A10136G (OR =1.034; 95% CI 1.004, 1.066; P = 0.011/OR =1.027; 95% CI 1.001, 1.055; P = 0.027) were more susceptible to cervical cancer than individuals without. Furthermore, we determined that mtDNA background is not associated with the progression of cervical cancer. CONCLUSIONS: Our results indicate that mtDNA haplogroups play a role in cervical cancer initiation.