STUDY QUESTION:What are the risk factors associated with meiotic errors in blastocysts with mosaic biopsy results? SUMMARY ANSWER:Meiotic errors were identified in 3.9% of blastocysts with mosaic biopsy results and were correlated with high-level mosaicism, maternal origin, and advanced maternal age. WHAT IS KNOWN ALREADY:Chromosomal mosaicism mainly arises from postzygotic mitotic errors, except for rare events from rescued meiotic errors. Preimplantation genetic testing for aneuploidy origin (PGT-AO) can distinguish meiotic errors from mitotic errors; however, the clinical value of PGT-AO remains to be explored. STUDY DESIGN SIZE DURATION:A retrospective cohort of 391 blastocysts with mosaic biopsy results from a university-based fertility centre in China between January 2020 and December 2024 was analysed by PGT-AO. Risk factors associated with meiotic errors in blastocysts with mosaic biopsy results were explored. Pregnancy outcomes following 96 mosaic embryo transfers (METs) of embryos with mitotic errors were compared with those following transfer of 288 matched euploid embryos. Additionally, 7 donated blastocysts were separated for single-cell DNA sequencing. PARTICIPANTS/MATERIALS SETTING METHODS:The parental origin and cell-division origin were analysed in 391 blastocysts classified as euploid-aneuploid mosaic from a cohort of 8932 blastocysts detected using the single-nucleotide polymorphism (SNP) array. In the prospective study, pregnancy outcomes following METs of embryos with mitotic errors were compared with those following transfer of matched euploid embryos at a 1:3 ratio using propensity score matching. The primary outcome was the live birth/ongoing pregnancy rate (LB/OPR) of METs involving mitotic errors. Multivariate logistic regression analysis was used to evaluate risk factors for pregnancy outcomes. Prenatal and placental samples were analysed by SNP array and/or FISH for genetic verification. Single-cell DNA sequencing of 314 cells separated from 7 donated blastocysts (4 with high-level mosaicism, 2 with meiotic aneuploidy, and 1 with low-level mosaicism) was conducted to assess actual mosaicism. The chromosomal constitution of the blastocysts was comprehensively evaluated at the single-cell level, and concordance with the initial PGT-A results was assessed. MAIN RESULTS AND THE ROLE OF CHANCE:A SNP-based mosaicism quantification platform was established and validated using mixtures of single cells of varying ploidy to mimic clinical mosaic samples. In the retrospective cohort, the error origin was successfully determined for 384 of the 391 blastocysts with euploid-aneuploid mosaicism. The overall meiotic error rate was only 3.9% (15/384). Meiotic error was identified in 9.6% of blastocysts with mosaicism from women of advanced maternal age, which was significantly greater than the 3.0% observed in blastocysts with mosaicism from young women (OR = 3.43, 95% CI 1.12-10.46; P = 0.039). In addition, meiotic error was identified in 7.2% (10/139) of blastocysts with high-level mosaicism but 2.0% (5/245) of blastocysts with low-level mosaicism (OR = 3.72, 95% CI 1.25-11.12; P = 0.012). Meiotic error was also significantly greater in blastocysts with maternal-origin mosaicism than in those with paternal-origin mosaicism (8.9% vs 0.4%, OR = 21.66; P < 0.001). Clinical outcomes were comparable between METs and euploid embryo transfers, with no significant difference in LB/OPR (47.9% vs 52.8%, P = 0.409). Single-cell sequencing of donated blastocysts with high-level mosaicisms of mitotic errors demonstrated highly variable mosaic levels, ranging from a reproducibility rate of 8.7-100% for initial mosaic abnormalities at the single-cell level. LARGE SCALE DATA:Due to the individual privacy of the patients, the data are not publicly available. LIMITATIONS REASONS FOR CAUTION:Intrinsic technical noise cannot be completely distinguished from genuine mosaicism in the PGT-AO platform. The sample size of the MET cohort was limited, with few cases undergoing prenatal/postnatal genetic validation. In the single-cell study, the number of verified embryos was relatively small, and the threshold of copy number variation (CNV) detection was 10 Mb, which may have led to the underestimation of CNVs under 10 Mb. WIDER IMPLICATIONS OF THE FINDINGS:PGT-AO analysis demonstrated a low prevalence of meiotic errors in human blastocysts with mosaic biopsy results. PGT-AO is recommended for embryos from patients of advanced maternal age, embryos with high-level mosaicism, and embryos with maternal-origin mosaicism in PGT cycles. FUNDING:This study was supported by grants from the National Key Research and Development Program of China (No. 2023YFC2705503), National Natural Science Foundation of China (No. 82071716), Natural Science Foundation of Guangdong Province (No. 2025A1515010982), Key Clinical Technique of Guangzhou (No. 2023P-ZD19), and Medical Scientific Research Foundation of Guangdong Province (No. A2025203). DISCLOSURES:All authors declare no conflicts of interest.

Recurrent implantation failure (RIF) remains a major challenge in assisted reproductive technology, and the molecular mechanisms underlying endometrial receptivity are incompletely understood. This study aimed to comprehensively characterize transcriptomic alterations, including alternative splicing events (ASEs), differential gene expression (DEGs), and immune cell dynamics across different phases of endometrial receptivity in women with RIF. Endometrial biopsies were collected from 90 healthy fertile controls and 73 RIF patients during pre-receptive, receptive, and post-receptive phases. High-throughput RNA sequencing was performed, and bioinformatic analyses were conducted to identify ASEs, DEGs, immune cell composition, and RNA-binding protein (RBP) networks. Skipped exons and mutually exclusive exons were the predominant splicing events observed. Both ASEs and DEGs were significantly enriched in pathways regulating cell adhesion, cytoskeletal organization, and immune modulation. KHDRBS3 emerged as a potential key RBP involved in splicing regulation during the window of implantation. Immune profiling revealed dynamic alterations in CD8 + T cells, NK cells, and monocytes between non-receptive and receptive phases, suggesting immune dysregulation associated with implantation failure. Drug repurposing analysis identified several small molecules targeting ASE-related genes, offering promising therapeutic options for RIF. These findings highlight the coordinated changes in alternative splicing, gene expression, and immune cell composition that characterize endometrial receptivity and provide insights that may guide the development of novel diagnostic biomarkers and targeted interventions to improve reproductive outcomes.

BackgroundThe molecular mechanisms underlying window of implantation (WOI) displacement in patients with recurrent implantation failure (RIF) remain unclear. This study aims to explore the transcriptomic signatures of endometrium with normal and displaced WOIs and to identify the causes of endometrial receptivity (ER) abnormalities and WOI displacement in RIF patients.MethodsIn this study, 40 RIF patients were recruited and underwent personalized embryo transfer (pET) guided by the predicted results of endometrial receptivity diagnosis (ERD) model. Transcriptome analysis of endometrium from patients with clinical pregnancies after pET was performed to identify differentially expressed genes (DEGs) associated with WOI displacement. Gene expression data from HRT and natural cycle endometrium were compared to identify specific gene expression patterns of ER-related genes during WOI.ResultsThe ERD results indicated that 67.5% of RIF patients (27/40) were non-receptive in the conventional WOI (P+5) of the HRT cycle. The clinical pregnancy rate in RIF patients improved to 65% (26/40) after ERD-guided pET, indicating the effectiveness of transcriptome-based WOI prediction. Among the 26 patients with clinical pregnancy, the gene expression profiles of P+5 endometrium from advanced (n=6), normal (n=10) and delayed (n=10) WOI groups were significantly different from each other. Furthermore, 10 DEGs identified among P+5 endometrium of 3 groups were involved in immunomodulation, transmembrane transport and tissue regeneration, which could accurately classify the endometrium with different WOIs. Additionally, a large number of ER-related genes showed significant correlation and similar gene expression patterns in P+3, P+5, and P+7 endometrium from HRT cycles and LH+5, LH+7, and LH+9 endometrium from natural cycles.ConclusionOur study shows that ER-related genes share similar gene expression patterns during WOI in both natural and HRT cycles, and their aberrant expression is associated with WOI displacements. The improvement of pregnancy outcomes in RIF patients by adjusting ET timing according to ERD results demonstrates the importance of transcriptome-based endometrial receptivity assessment and the clinical efficiency of ERD model.

Monogenic inherited diseases are common causes of congenital disabilities, leading to severe economic and mental burdens on affected families. In our previous study, we demonstrated the validity of cell-based noninvasive prenatal testing (cbNIPT) in prenatal diagnosis by single-cell targeted sequencing. The present research further explored the feasibility of single-cell whole-genome sequencing (WGS) and haplotype analysis of various monogenic diseases with cbNIPT. Four families were recruited: one with inherited deafness, one with hemophilia, one with large vestibular aqueduct syndrome (LVAS), and one with no disease. Circulating trophoblast cells (cTBs) were obtained from maternal blood and analyzed by single-cell 15X WGS. Haplotype analysis showed that CFC178 (deafness family), CFC616 (hemo-philia family), and CFC111 (LVAS family) inherited haplotypes from paternal and/or maternal pathogenic loci. Amniotic fluid or fetal villi samples from the deafness and hemophilia families confirmed these results. WGS performed better than targeted sequencing in genome coverage, allele dropout (ADO), and false-positive (FP) ratios. Our findings suggest that cbNIPT by WGS and haplotype analysis have great potential for use in prenatally diagnosing various monogenic diseases.

Background:Today, approximately 10% of participants in assisted reproductive technology (ART) are defined as having recurrent implantation failure (RIF). Recent studies show that endometrial receptivity array can improve pregnancy and implantation rates by nearly 20% in women with RIF. However, these studies are limited, with little published data in the Chinese population. Recently, we have established a transcriptome-based endometrial receptivity assessment (Tb-ERA) method of predicting the endometrial window of implantation (WOI) using transcriptome-profiling data of different phases of the menstrual cycle from healthy fertile Chinese women by RNA-Seq. It is meaningful to conduct a randomized controlled trial (RCT) to assess the clinical efficiency of Tb-ERA in Chinese patients with RIF.Methods:In this RCT, a total of 200 RIF patients will be recruited and randomized into 2 groups. Patients in the Tb-ERA group will undergo a Tb-ERA test, after which embryo transfer time will be adjusted according to Tb-ERA results and embryo transfer will be performed again in the next cycle. Patients in the control group will not receive any interventions until the next transfer cycle. We will perform statistical analysis on both groups at the primary endpoint (clinical-pregnancy rate) and at secondary endpoints (rate of WOI displacement, embryo implantation, biochemical pregnancy, early abortion, and ectopic pregnancy). Implications: This study aims to evaluate the effectiveness of our Tb-ERA test in Chinese RIF patients and to determine that whether Tb-ERA could improve the clinical-pregnancy rate in these RIF patients.Trial registration:NCT04497558, registered August 4, 2020.

Objective To establish a method for noninvasive fetal cell isolation from maternal blood and prenatal testing of monogenic diseases by a combination of direct sequencing and targeted NGS-based SNP haplotyping from single fetal cells. Method Peripheral blood of pregnant women in two families (congenital deafness and ichthyosis) was collected. After density-based separation and immunostaining with multiple biomarkers, candidate fetal cells were identified by high-throughput imagine analysis and picked up by automation. Individual fetal cells were subjected to STR-genotyping to identify their origin. Pathogenic mutations were identified by direct Sanger sequencing, and a combination of targeted NGS and SNP haplotyping using a custom panel. All the results were compared with amniotic fluid DNA. Results Fetal trophoblasts were successfully harvested from maternal blood. STR-genotyping confirmed the fetal origin. Direct sequencing of pathogenic genetic mutations in fetal cells showed consistent results with amniotic fluid samples. For congenital deafness family, NGS-based SNP haplotyping also correctly identified the fetal haplotype. This single cell haplotyping method can be used to diagnose various genetic diseases. Conclusion We have established a method for noninvasive prenatal testing of monogenic diseases from circulating trophoblast cells. This cell-based NIPT can be further applied to the prenatal diagnosis of various monogenic diseases.

本研究旨在探讨杜洛克(D)、大白(Y)和长白(L)3个知名西方品种与金华猪(J)的杂交利用情况.应用"基于基因组简化与测序的基因型判型(GGRS)"技术平台,检测单核苷酸多态性(SNPs)并判定基因型.利用全基因组性状特异的SNP分子标记估算不同群体间的遗传距离,从胴体与肉品质、繁殖、健康和生长4个性状对金华猪不同杂交模式下的杂种优势进行预测.结果表明:共找到繁殖、生长、胴体与肉品质和健康性状潜在相关基因的SNP分别为1835、2174、196057、17200个;在二元杂交组合中,♂杜 × ♀金(D×J)为较优组合;在三元杂交组合中,♂金 × ♀长大(J×LY)为较优组合;在四元杂交组合中,♂杜金 × ♀长大(DJ×LY)为较优组合.本研究应用生物信息学技术对金华猪不同杂交模式的杂交优势进行预测,可大大减少后续的配合力实验,结果可为金华猪的保种和杂交利用提供一定参考.

Objective: To explore the molecular mechanisms of fat metabolism and deposition in pigs, an experiment was conducted to identify hepatic mRNAs and miRNAs expression and determine the potential interaction of them in two phenotypically extreme pig breeds. Methods: mRNA and miRNA profiling of liver from 70-day Jinhua (JH) and Landrace (LD) pigs were performed using RNA sequencing. Blood samples were taken to detect results of serum biochemistry. Bioinformatics analysis were applied to construct differentially expressed miRNA-mRNA network. Results: Serum total triiodothyronine and total thyroxine were significantly lower in Jinhua pigs, but the content of serum total cholesterol (TCH) and low-density lipoprotein cholesterol were strikingly higher. A total of 467 differentially expressed genes (DEGs) and 35 differentially expressed miRNAs (DE miRNAs) were identified between JH and LD groups. Gene ontology analysis suggested that DEGs were involved in oxidation-reduction, lipid biosynthetic and lipid metabolism process. Interaction network of DEGs and DE miRNAs were constructed, according to target prediction results. Conclusion: We generated transcriptome and miRNAome profiles of liver from JH and LD pig breeds which represent distinguishing phenotypes of growth and metabolism. The potential miRNA-mRNA interaction networks may provide a comprehensive understanding in the mechanism of lipid metabolism. These results serve as a basis for further investigation on biological functions of miRNAs in the porcine liver.

选择信号是生物群体在选择进化的过程中,由于选择作用使得生物群体表型特征发生变化的对应基因组信息.本研究基于嵊县花猪等10个中外地方猪品种共计517个个体全基因组测序数据,利用群体分化指数(FsT)和核苷酸多态性(θπ)方法检测嵊县花猪群体与浙江省其他地方猪种群体间以及与西方猪种群体间的选择信号,找到17个落入选择信号区域的候选基因.其中与浙江省地方猪群体相比,检测出候选基因9个,分别是SYT1、FAM135B、GLIS1、GALNT2、BIN1、LOC1 0062 7093、TG、SOX9、CH2 5H;与西方猪群体相比,检测出候选基因8个,分别是MGAT5、MAPK4K4、KSR2、RBP5、HDLBP、KCNE2、KIRREL3、BTBDll.这些候选基因在脂肪代谢、免疫、胚胎发育、消化代谢等通路中发挥重要的作用,说明嵊县花猪在耐粗饲、抗病力强、高繁殖力等性状上经历了人工选择,为研究嵊县花猪的群体特征提供了参考价值.

To improve development and utilization of Jinhua pig (JH) resources,we designed the crossings of Duroc × J H (D×J),Duroc × Landrace × JH (D×LJ),JH × Landrace × Yorkshire (J×LY),Duroc × JH × Landrace × Yorkshire (DJ×LY) to see how they affected the growth performance,reproductive performance,slaughter performance and meat quality,respectively,of Jinhua pigs.The results indicated that DJ×LY crossbreeding produced higher total litter size,alive litter size and newborn litter weight than the other three crossbreeding designs;D×LJ and DJ×LY had better dressing percentage and lean percentage;J×LY resulted in the highest carcass length,followed by DJ×LY cross;and DJ×LY led to the highest correct color grading and marbling scores.Taken together,all the JH crossbreeding trials in this study could serve as candidate crosses,with the DJ×LY crossbreedding being a more recommended one,for Jinhua pig production.

Objective An experiment was conducted to identify and characterize the circular RNA expression and metabolic characteristics in the liver of Jinhua pigs and Landrace pigs. Methods Three Jinhua pigs and three Landrace pigs respectively at 70-day were slaughtered to collect the liver tissue samples. Immediately after slaughter, blood samples were taken to detect serum biochemical indicators. Total RNA extracted from liver tissue samples were used to prepare the library and then sequence on HiSeq 2500. Bioinformatic methods were employed to analyze sequence data to identify the circRNAs and predict the potential roles of differentially expressed circRNAs between the two breeds. Results Significant differences in physiological and biochemical traits were observed between growing Jinhua and Landrace pigs. We identified 84,864 circRNA candidates in two breeds and 366 circRNAs were detected as significantly differentially expressed. Their host genes are involved in lipid biosynthetic and metabolic processes according to the gene ontology analysis and associated with metabolic pathways. Conclusion Our research represents the first description of circRNA profiles in the porcine liver from two divergent phenotype pigs. The predicted miRNA-circRNA interaction provides important basis for miRNA-circRNA relationships in the porcine liver. These data expand the repertories of porcine circRNA and are conducive to understanding the possible molecular mechanisms involved in miRNA and circRNA. Our study provides basic data for further research of the biological functions of circRNAs in the porcine liver.

Inbreeding, which has several causes including genetic drift, population bottlenecks, mating of close relatives and selection, can leave tracts of runs of homozygosity (ROH) along genomes. Recently, decreasing performance on reproductive traits, which might have resulted from inbreeding, has been observed in Chinese pigs. In this study, 830 individuals from Western and Chinese pig breeds were genotyped using the reduced-representation sequencing method. After imputation and quality control, 60 850 high-confidence SNPs were retained for ROH detection. A simulation was performed to explore the reliability of ROH detection with imputed data. Different ROH-related variables were compared between imputed and non-missing genotypes used in ROH detection. Furthermore, ROH islands were evaluated and annotated to find genes influenced by inbreeding in these pigs. The simulation results showed that imputed data with 0.7 as the average missing genotype rate and three heterozygotes allowed in a sliding window have comparable ROH detected compared with data with no missing genotypes. Compared with Western pig breeds, Chinese pigs had more autosomes covered by ROH longer than 5 Mb, indicating higher inbreeding in Chinese pigs in recent times. Genes related to reproduction, immunity, meat quality and adaptability in Chinese pigs and several genes related to growth speed and immunity in Western pigs were observed in short ROH islands. The reproduction-related gene PRM1 was found to be located in the most frequent long ROH island in Chinese pigs, which might explain the decreasing fertility in Chinese pig breeds.

The differences in artificial and natural selection have been some of the factors contributing to phenotypic diversity between Chinese and western pigs. Here, 830 individuals from western and Chinese pig breeds were genotyped using the reduced-representation genotyping method. First, we identified the selection signatures for different pig breeds. By comparing Chinese pigs and western pigs along the first principal component, the growth gene IGF1R; the immune genes IL1R1, IL1RL1, DUSP10, RAC3 and SWAP70; the meat quality-related gene SNORA50 and the olfactory gene OR1F1 were identified as candidate differentiated targets. Further, along a principal component separating Pudong White pigs from others, a potential causal gene for coat colour (EDNRB) was discovered. In addition, the divergent signatures evaluated by Fst within Chinese pig breeds found genes associated with the phenotypic features of coat colour, meat quality and feed efficiency among these indigenous pigs. Second, admixture and genomic introgression analysis were performed. Shan pigs have introgressed genes from Berkshire, Yorkshire and Hongdenglong pigs. The results of introgression mapping showed that this introgression conferred adaption to the local environment and coat colour of Chinese pigs and the superior productivity of western pigs.

试验评估采集嘉兴黑猪血样89例,其中公猪21例,母猪68例,利用GGRS简化基因组文库技术,共检测出SNP位点108603个,经过滤筛选后共获位点48408个,具有多态性的位点占比为0.99,通过计算得到AR为1.9,HE为0.324,群体内的平均遗传距离为0.136±0.01.

本试验旨在探讨早期断奶对仔猪血清、肌肉及肝脏氨基酸代谢的影响及意义.选择4窝18日龄仔猪,从每窝中各选4头,共计16头仔猪,称重后选择4头屠宰取样,另外12头断奶处理(断奶组).每窝剩余仔猪由母猪继续哺乳(非断奶组).在断奶后第1、3、7天从断奶组和非断奶组各取4头仔猪称重、采血后,屠宰取肝脏、背最长肌等组织进行测定分析.结果表明:在断奶后第7天,仔猪背最长肌重量与体重的比率显著降低(P＜0.05),血清尿素氮含量显著升高(P＜0.05).血清、肌肉和肝脏中的游离赖氨酸及血清中的必需氨基酸、苏氨酸在断奶早期阶段显著降低(P＜0.05),血清、肌肉和肝脏中的游离谷氨酸含量则显著升高(P＜0.05).综上所述,在早期断奶阶段,仔猪蛋白质摄入不足(血清总氨基酸等含量降低),机体分解并代谢蛋白质使血清尿素氮和谷氨酸含量上升,肌肉的生长同时受到抑制(背最长肌重量与体重的比率降低).

Chinese pigs have been undergoing both natural and artificial selection for thousands of years. Jinhua pigs are of great importance, as they can be a valuable model for exploring the genetic mechanisms linked to meat quality and other traits such as disease resistance, reproduction and production. The purpose of this study was to identify distinctive footprints of selection between Jinhua pigs and other breeds utilizing genome-wide SNP data. Genotyping by genome reducing and sequencing was implemented in order to perform cross-population extended haplotype homozygosity to reveal strong signatures of selection for those economically important traits. This work was performed at a 2% genome level, which comprised 152 006 SNPs genotyped in a total of 517 individuals. Population-specific footprints of selective sweeps were searched for in the genome of Jinhua pigs using six native breeds and three European breeds as reference groups. Several candidate genes associated with meat quality, health and reproduction, such as GH1, CRHR2, TRAF4 and CCK, were found to be overlapping with the significantly positive outliers. Additionally, the results revealed that some genomic regions associated with meat quality, immune response and reproduction in Jinhua pigs have evolved directionally under domestication and subsequent selections. The identified genes and biological pathways in Jinhua pigs showed different selection patterns in comparison with the Chinese and European breeds.

OBJECTIVE:The aim of this study was to examine shifts in the composition of the bacterial population in the intestinal tracts (ITs) of weaning piglets by antibiotic treatment using high-throughput sequencing. METHODS:Sixty 28-d-old weaning piglets were randomly divided into two treatment groups. The Control group was treated with a basal diet without antibiotics. The Antibiotic group's basal diet contained colistin sulfate at a concentration of 20 g per ton and bacitracin zinc at a concentration of 40 g per ton. All of the pigs were fed for 28 days. Then, three pigs were killed, and the luminal contents of the jejunum, ileum, cecum, and colon were collected for DNA extraction and high-throughput sequencing. RESULTS:The results showed that the average daily weight gain of the antibiotic group was significantly greater (p<0.05), and the incidence of diarrhea lower (p>0.05), than the control group. A total of 812,607 valid reads were generated. Thirty-eight operational taxonomic units (OTUs) that were found in all of the samples were defined as core OTUs. Twenty-one phyla were identified, and approximately 90% of the classifiable sequences belonged to the phylum Firmicutes. Forty-two classes were identified. Of the 232 genera identified, nine genera were identified as the core gut microbiome because they existed in all of the tracts. The proportion of the nine core bacteria varied at the different tract sites. A heat map was used to understand how the numbers of the abundant genera shifted between the two treatment groups. CONCLUSION:At different tract sites the relative abundance of gut microbiota was different. Antibiotics could cause shifts in the microorganism composition and affect the composition of gut microbiota in the different tracts of weaning piglets.

The thyroid gland is an important endocrine organ modulating development, growth, and metabolism, mainly by controlling the synthesis and secretion of thyroid hormones (THs). However, little is known about the pig thyroid transcriptome. Long non-coding RNAs (lncRNAs) regulate gene expression and play critical roles in many cellular processes. Yorkshire pigs have a higher growth rate but lower fat deposition than that of Jinhua pigs, and thus, these species are ideal models for studying growth and lipid metabolism. This study revealed higher levels of THs in the serum of Yorkshire pigs than in the serum of Jinhua pigs. By using Ribo-zero RNA sequencing-which can capture both polyA and non-polyA transcripts-the thyroid transcriptome of both breeds were analyzed and 22,435 known mRNAs were found to be expressed in the pig thyroid. In addition, 1189 novel mRNAs and 1018 candidate lncRNA transcripts were detected. Multiple TH-synthesis-related genes were identified among the 455 differentially-expressed known mRNAs, 37 novel mRNAs, and 52 lncRNA transcripts. Bioinformatics analysis revealed that differentially-expressed genes were enriched in the microtubule-based process, which contributes to THs secretion. Moreover, integrating analysis predicted 13 potential lncRNA-mRNA gene pairs. These data expanded the repertoire of porcine lncRNAs and mRNAs and contribute to understanding the possible molecular mechanisms involved in animal growth and lipid metabolism.

本试验选取了金华猪、嵊县花猪、嘉兴黑猪、兰溪花猪、岔路黑猪、碧湖猪、淳安花猪等7个浙江省地方猪种和大白、长白、杜洛克3个外来猪种共491头,采用第二代测序技术,得到SNP座位53860个,并使用最大似然法计算遗传距离,结果表明：7个浙江省地方猪种之间的平均遗传距离为1.073,3个外来猪种之间的平均遗传距离为0.60,金华猪与长白猪之间的遗传距离最远,为2.031。构建的N-J系统进化树表明3个外来猪种首先归为一类,淳安花猪和嘉兴黑猪也较早归为一类,而岔路黑猪、金华猪和嵊县花猪相对其他猪种较远。这一研究结果为浙江省地方猪种的种质特性和进一步的开发利用提供了参考。

Liver-type fatty acid-binding protein (L-FABP) is a member of intracellular lipid-binding proteins involved in the transportation of fatty acids. We detected the polymorphisms of duck L-FABP gene and its association with the intramuscular fat (IMF) and other fat-related traits. The complete sequence of duck L-FABP gene (four exons and three introns, 2,542 bp) was obtained in this study. The polymorphism of L-FABP gene was examined with direct DNA sequencing method in 231 individuals from different breeds, and a novel single nucleotide polymorphism in the exon 3 was detected. The polymorphism was shown to be associated with the contents of C16:0, C18:3 and the total IMF in pectoral muscle. The content of C16:0 in genotype CC was significantly higher than CT (P < 0.01) and TT (P < 0.01), and the genotype CT was higher than TT (P < 0.01). The content of C18:3 in genotype TT was significantly higher than CC and CT (P < 0.01), whereas the genotype CC and CT had no significant difference (P > 0.05). The content of IMF in genotype CC was significantly higher than CT (P < 0.01). However, no significant difference was detected between genotype CC and TT or genotype CT and TT (P > 0.05).