Prenatal ultrasonography and genetic analysis of fetal cleidocranial dysplasia:A case report

BACKGROUND Cleidocranial dysplasia(CCD)is an infrequent clinical condition with an autosomal dominant inheritance pattern.It is characterized by abnormal clavicles,patent sutures and fontanelles,supernumerary teeth,and short stature.Approximately 60%-70%of patients with CCD have mutations in the RUNX family transcription factor 2 gene.However,prenatal diagnosis of CCD is difficult when the family history is unknown.CASE SUMMARY We report a rare case of fetal CCD with an unknown family history,confirmed by prenatal ultrasonography and genetic testing at a gestational age of 16 weeks.The genetic reports indicated that the fetus carried pathogenic mutations in the RUNX family transcription factor 2 gene(c.674G>A).After careful consideration,the pregnant woman and her family decided to continue the pregnancy.CONCLUSION Definitive prenatal diagnosis of CCD should include family history,ultrasound diagnosis,and genetic analysis,especially if family history is unknown.

SFGA-CPA: A Novel Screening Correlation Power Analysis Framework Based on Genetic Algorithm

Correlation power analysis(CPA)combined with genetic algorithms(GA)now achieves greater attack efficiency and can recover all subkeys simultaneously.However,two issues in GA-based CPA still need to be addressed:key degeneration and slow evolution within populations.These challenges significantly hinder key recovery efforts.This paper proposes a screening correlation power analysis framework combined with a genetic algorithm,named SFGA-CPA,to address these issues.SFGA-CPA introduces three operations designed to exploit CPA characteris-tics:propagative operation,constrained crossover,and constrained mutation.Firstly,the propagative operation accelerates population evolution by maximizing the number of correct bytes in each individual.Secondly,the constrained crossover and mutation operations effectively address key degeneration by preventing the compromise of correct bytes.Finally,an intelligent search method is proposed to identify optimal parameters,further improving attack efficiency.Experiments were conducted on both simulated environments and real power traces collected from the SAKURA-G platform.In the case of simulation,SFGA-CPA reduces the number of traces by 27.3%and 60%compared to CPA based on multiple screening methods(MS-CPA)and CPA based on simple GA method(SGA-CPA)when the success rate reaches 90%.Moreover,real experimental results on the SAKURA-G platform demonstrate that our approach outperforms other methods.

Population genomic analysis reveals key genetic variations and the driving force for embryonic callus induction capability in maize

Genetic transformation has been an effective technology for improving the agronomic traits of maize.However,it is highly reliant on the use of embryonic callus(EC)and shows a serious genotype dependence.In this study,we performed genomic sequencing for 80 core maize germplasms and constructed a high-density genomic variation map using our newly developed pipeline(MQ2Gpipe).Based on the induction rate of EC(REC),these inbred lines were categorized into three subpopulations.The low-REC germplasms displayed more abundant genetic diversity than the high-REC germplasms.By integrating a genome-wide selective signature screen and region-based association analysis,we revealed 95.23 Mb of selective regions and 43 REC-associated variants.These variants had phenotypic variance explained values ranging between 21.46 and 49.46%.In total,103 candidate genes were identified within the linkage disequilibrium regions of these REC-associated loci.These genes mainly participate in regulation of the cell cycle,regulation of cytokinesis,and other functions,among which MYB15 and EMB2745 were located within the previously reported QTL for EC induction.Numerous leaf area-associated variants with large effects were closely linked to several REC-related loci,implying a potential synergistic selection of REC and leaf size during modern maize breeding.

Advancing Early Detection of Colorectal Adenomatous Polyps via Genetic Data Analysis: A Hybrid Machine Learning Approach

In this study, a hybrid machine learning (HML)-based approach, incorporating Genetic data analysis (GDA), is proposed to accurately identify the presence of adenomatous colorectal polyps (ACRP) which is a crucial early detector of colorectal cancer (CRC). The present study develops a classification ensemble model based on tuned hyperparameters. Surpassing accuracy percentages of early detection approaches used in previous studies, the current method exhibits exceptional performance in identifying ACRP and diagnosing CRC, overcoming limitations of CRC traditional methods that are based on error-prone manual examination. Particularly, the method demonstrates the following CRP identification accuracy data: 97.7 ± 1.1, precision: 94.3 ± 5, recall: 96.0 ± 3, F1-score: 95.7 ± 4, specificity: 97.3 ± 1.2, average AUC: 0.97.3 ± 0.02, and average p-value: 0.0425 ± 0.07. The findings underscore the potential of this method for early detection of ACRP as well as clinical use in the development of CRC treatment planning strategies. The advantages of this approach are highly expected to contribute to the prevention and reduction of CRC mortality.

Genetic Diversity in Main Cultivars of Safflower in Xinjiang Uighur Autonomous Region Based on RAPD Analysis

[Objective] Study on the genetic diversity in main cultivars of safflower distributing in Xinjiang Uighur Autonomous Region by means of RAPD makers.[Method] Genomic DNAs of 29 safflower accessions from Xinjiang Uighur Autonomous Region were extracted for PCR amplification using 20 RAPD primers.[Result] Totally 156 bands were amplified,among which 144 bands were polymorphic(accounting for 92.31%),indicating that safflower is endowed with plentiful genetic diversity.Based on the DNA fingerprint,the 29 safflower accessions were grouped into four populations,the classification results may be not related with ecological regionality.[Conclusion] RAPD technique is an available tool to analyze the genetic diversity of safflower germplasm at molecular level.

RAPD analysis of genetic diversity of nine strains of Auricularia auricular cultivated in Heilongjiang Province

Polymorphism of nine strains （CF05, CF09, 29, 916, AU9, Chang10, Chang7, 8808 and AU. Japanese） of A. auricular cultivated in Heilongjiang Province were analyzed by RAPD （Random Amplication polymorphic DNA）. Thirteen primers were selected from forty PCR primers with 10bp long random primer. The results showed that nine strains of A. auricular have a high level of genetic diversity and the percentage of DNA polymorphic was 96.05. The genotypes of 9 strains of Auricularia auricular were identified by the fingerprints from primer 27 and primer 46 by RAPD analysis. The results are helpful for quickly identifying strains of A. auricular in its early breeding time, and also provides a powerful theoretic basis to differentiate strains （Auricularia auricular） whose morphology is very similar in breeding programs of edible fungus.

Genetic Analysis of a Biomass Mutant in Oryza sativa

[ Objective ] The study aimed to reveal the genetic model of a biomass mutant in Oryza sativa. [ Method ] In the process of screening and identification of Bar-transgenic rice, a biomass mutant was found in 10 lines of T1 progenies. The mutant was investigated for genetic analysis and agronomic traits by herbicide spraying and PCR amplification. [ Result] The segregation ratio is consistent with mendelian law（3：1）. The mutant assumed not only higher plant height, wider straw and earlier florescence, but also more tillers, bigger spikes and resultantly higher biomass. PCR detections indicated that no co-segregation was observed between mutant traits and target gene（Bar） in the T-DNA inserted, proving that the mutant is not caused by the insertion of T-DNA containing target gene （Bar）. [ Conclusion] Our study may avail to understand the cloning of mutant gene and the mechanism of the mutant gene on biomass.

Morphological,Anatomical and Genetic Analysis for a Rice Mutant with Abnormal Hull

A mutant with abnormal hull was first discovered from a twin-seedling strain W2555 in rice （Oryza sativa L.）. The mutant had sparse branches and decreased number of florets from the base to the peak. Frequently, the florets at the top of the panicle did not develop completely. The underdeveloped florets often showed slender and white in their life cycle. Genetic analysis indicated that the mutant traits were controlled by a single recessive gene （temporarily designated as ah）. ah gene controlled the development of inflorescence meristem and the flower organ. The florets of mutant showed degenerated lemma and palea. Stamens and lodicules were homeoticly transformed into pistils and palea/lemma-like structures, respectively. It seemed that ah mutant phenotypes of the homeotic conversions in lodicules and stamens were very similar to that of the B loss-of-function spwl gene reported previously in rice.

Genetic Analysis of the VP2 Hypervariable Region of Thirty-six Infectious Bursal Disease Virus Isolates in China during 2009-2012

[Objective] Infectious bursal disease （IBD） is a highly contagious immuno- suppressive disease caused by infectious bursal disease virus （IBDV）. IBDV is ge- netically prone to mutation, which results in challenges to the disease prevention and control. Thus, it is necessary to continuously monitor the prevalence of IBDV. [Method] 36 IBDVs were identified from ten provinces in China from 2009 to 2012. Partial fragments of VP2, including the hypervariable region （HVR）, from new iso- lates were sequenced and analyzed through comparisons with published sequences of IBDV, including 18 strains isolated previously by our lab and 24 reference strains from China and around the world. [Result] Phylogenetic analysis showed a co-exis- tence of IBDV strains belonging to classic, variant, attenuated, and very virulent IB- DV （wlBDV） in China. wlBDVs remain the predominant strains in China and the new subgroup was emerging. Alignment analysis revealed several distinct amino acid mutations that might be involved in virulence or antigenicity variation. [Conclu- sion] The results offered evolutionary clues showing the emerging trend of obvious variations and diversity of IBDV in major poultry-producing regions of China particu- larly in recent years. These findings will contribute to a better understanding of the genetic evolution of IBDV.

AFLP Analysis of Phylogenetic Relationship of Salvia spp. in Beijing

Twenty-third collections of Salvia spp.in Beijing were analyzed phylogenetically by AFLP technique.6 primer pairs with good repetition and highly polymorphic bands from 21 pairs were selected to amplify the genomic DNA.All of 367 AFLP bands were obtained,in which 359(97.82%)were polymorphic markers.At a genetic distance of 0.32,the collections could be clustered into 7 species i.e.S.splendens,S.farinacea,S.coccinea,S.plebeia,S.miltiorrhiza,S.umbratica and S.officinalis.The respective genetic relationship be...

Genetic Diversity and Clustering Analysis of 48Cultivars of Olea euyopaea L.

Inter-simple sequence repeat（ISSR） molecular markers were applied to analyze the genetic diversity and clustering of 48 introduced and bred cultivars of Olea euyopaea L. Totally 106 DNA bands were amplified by 11 screened primers, including 99 polymorphic bands; the percentage of polymorphic loci was 93.40%, indicating a rich genetic diversity in Olea euyopaea L. germplasm resources. Based on Nei＇s genetic distances between various cultivars, a dendrogram of 48 cultivars of Olea euyopaea L. was constructed using unweighted pair-group（UPMGA）method,which showed that 48 cultivars were clustered into four main categories; 84.6% of native cultivars were clustered into two categories; most of introduced cultivars were clustered based on their sources and main usages but not on their geographic origins. This study will provide references for the utilization and further genetic improvement of Olea euyopaea L. germplasm resources.

RAPD Analysis for Genetic Diversity of Varanus salvator

[Objective] The aim was to carry out RAPD analysis on genetic diversity of Varanus salvator. [Method] 20 random primers were used for PCR amplification of genomic DNA of 36 individuals of V. salvator. [Result] 10 primers could produce highly reproducible RAPD bands. A total of 2 952 DNA fragments were successfully amplified. Each individual got 82 amplified bands on average,47 of which showed polymorphism. The polymorphic locus percent was 57.32%. The genetic distance among 36 individuals ranged from 0.035 9 to 0.335 9 with an average of 0.135 9. The Nei＇s gene diversity index （H） and Shannon＇s information index （I） were 0.181 9 and 0.263 0,respectively,indicating that V. salvator had greater genetic diversity. [Conclusion] The phylogenetic tree was inferred by using UPGMA analysis,it was found that the 36 individuals could be classified as one group,and there was no obvious population differentiation.

Genetic Analysis of Notched Grain in Rice水稻腹缺米的遗传分析

调查了1366份水稻品种和品系,腹缺米的发生频率为5.63%,腹缺米频率与粒重的相关r=+0.6195。1978、1979和1981年,用腹缺米和饱满米配制了17个组合,F_1、F_2和 BF的分析发现,腹缺米受两对显性互补基因控制,环境条件只影响腹缺米的程度。这种障碍在早期世代进行连续选择即可消除。

Genetic Variation Analysis of 3D Gene and Molecular Detection of Porcine Kobuvirus in 2013-2014

[Objective] This study aimed to investigate the prevalence and variation of porcine kobuvirus （PKV） in suckling piglets in China. [Method] In 2013-2014, 224 feces samples from suckling piglets with diarrhea in 27 pig farms of five provinces in China were collected to detect 3D genes of PKV with RT-PCR method; the sequences and genetic variation of 29 PKV 3D genes were analyzed. [Result] Total positive rate of PKV in feces samples from suckling piglets with diarrhea was 65.18% （146/224）; total positive rate of PKV in pig farms was 85,2% （23/27）; nucleotide sequences and the deduced amino acid sequences of 29 PKV 3D genes shared 87.0%-100% and 92.7%-100% homologies with six PKV-related 3D sequences, respectively. [Conclusion] PKV infection is prevalent in suckling piglets in China; PKV 3D genes exhibit high diversity.

Creation and Genetic Analysis of a Male Sterility Mutant in Panicum miliaceum

Heterosis plays an important role in the development of new crop varieties with high-yielding, good-quality and biotic/abiotic stresses while male sterile line de- velopment is the key step to determine the success of heterosis utilization. A male sterile mutant, M207A was created in proso millet （Panicum mi/iaceurn, 2n=4x=36） for the first time using 60Co-y ray mutagenesis. Fertility identification and genetic analysis were carried out to characterize the mutant for its possible use for hetero- sis utilization in proso millet. First the sterility was investigated using both field sur- vey and indoor pollen microscopy identification. Then Pollinated by normal fertile proso millet cultivars, F1 and F2 populations from the mutant were obtained. Mean- while primary genetic analysis was also conducted using above populations in dif- ferent experimental sites, seasons and years. The results showed that the male sterile plant exhibited closed glumes, browning and dry anthers with few normal pollens. The sterility was stable and sterility rate was above 95% on average. The segregation ratio of fertile to sterile plants was 35：1 in the fertile selfing F2 popula- tion indicating that the mutant was a genic male sterility belonging to a pollen-less type controlled by a single recessive gene. The creation of the mutant, M207A can play a key role for heterosis utilization in proso millet.

Genetic Diversity Analysis of the Main Commercial Varieties of Brassica napus in Guizhou Province

[Objective] The aim was to investigate the genetic diversity of the main commercial varieties of Brassica napus in Guizhou Province at the molecular level. [Method] Nine main commercial rapeseed cultivars in Guizhou were detected by 40 pairs of SSR primers used in the national regional trial of B. napus, and then clus-tering analysis was carried out. [Result] A total of 191 bands were amplified, and 143 （accounting for 75%） of them showed polymorphism among the nine rapeseed cultivars. By cluster analysis, the nine cultivars were divided into two groups. Group A included seven varieties, and group B consisted of two cultivars from Guizhou In-stitute of Oil Crops. The cultivars in group A were further divided into sub-groups A1 and A2 at the similarity coefficient of 0.643 4. Sub-group A1 included three culti-vars from Guizhou Rapeseed Institute, and sub-group A2 included the other four cultivars from Guizhou Institute of Oil Crops. [Conclusion] The cultivars bred by the same institute had similar genetic background. The cultivars from Guizhou Institute of Oil Crops showed wider genetic basis. However, the genetic similarity coefficient between Qianyou 17 and Qianyou 29 was up to 0.87, suggesting that they shared closer genetic basis.

Evaluating the scope of human leukocyte antigen polymorphisms influencing hepatitis B virus-related liver cancer and cirrhosis through multi-clustering analysis

Hepatitis B virus remains a major cause of cirrhosis and hepatocellular carcinoma,with genetic polymorphisms and mutations influencing immune responses and disease progression.Nguyen et al present novel findings on specific human leukocyte antigen(HLA)alleles,including rs2856718 of HLA-DQ and rs3077 and rs9277535 of HLA-DP,which may predispose individuals to cirrhosis and liver cancer,based on multi-clustering analysis.Here,we discuss the feasibility of this approach and identify key areas for further investigation,aiming to offer insights for advancing clinical practice and research in liver disease and related cancers.

SRAP Analysis on Genetic Relationship of Carthamus tinctorius L Varieties in Xinjiang

[Objective] This study aimed to analyze the genetic relationship of the Carthamus tinctorius L（safflower） varieties in Xinjiang, and thus to provide a scientific basis for its protection and development. [Method] The genomic DNA of five safflower varieties from Xinjiang and one from Yunnan were analyzed and compared by SRAP molecular marker. [Result] Twelve pairs of SRAP primers were selected to amplify the genomic DNA of the six materials. Among the 171 clear DNA bands finally obtained, 93 were polymorphic, accounting for 54.4% of total. Genetic similarity coefficient of the six safflower varieties ranged from 0.60 to 0.92. [Conclusion]SRAP molecular marker is suitable for safflower varieties research and to guide the molecular breeding.

Identification, Genetic Analysis and Mapping of Resistance to Phytophthora sojae of Pm28 in Soybean

Phytophthora sojae Kanfman and Gerdemann （P. sojae） is one of the most prevalent pathogens and causes Phytophthora root rot, which limits soybean production worldwide. Development of resistant cultivars is a cost-effective approach to controlling this disease. In this study, 127 soybean germplasm were evaluated for their responses to Phytophthora sojae strain Pm28 using the hypocotyl inoculation technique, and 49 were found resistant to the strain. The hypocotyl of P1, P2, F1, and F2：3 of two crosses of Ludou 4 （resistant）×Youchu 4 （susceptible） and Cangdou 5 （resistant）×Williams （susceptible） were inoculated with Pm28, and were used to analyze the inheritance of resistance. The population derived from the cross of Ludou 4×Youchu 4 was used to map the resistance gene （designated as Rps9） to a linkage group. 932 pairs of SSR primers were used to detect polymorphism, and seven SSR markers were mapped near the resistance gene. The results showed that the resistance to Pm28 in Ludou 4 and Cangdou 5 was controlled by a single dominant gene Rps9, which was located on the molecular linkage group N between the SSR markers Satt631 （7.5 cM） and Sat_186 （4.3 cM）.

Analysis of Genetic Diversity of Processing Apple Varieties

Genetic diversity of 18 processing apple varieties and two fresh varieties were evaluated using 12 simple sequence repeats （SSR） primer pairs previously identified in Malus domestica Borkh. A total of 87 alleles in 10 loci were detected using 10 polymorphic SSR markers selected within the range of 5-14 alleles per locus. All the 20 varieties could be distinguished using two primer pairs and they were divided into four groups using cluster analysis. The genetic similarity （GS） of groups analyzed using cluster analysis varied from 0.14 to 0.83. High acid variety Avrolles separated from other varieties with GS less than 0.42. The second group contained Longfeng and Dolgo from Northeast of China, the inherited genes of Chinese crab apple. The five cider varieties with high tannin contents, namely, Dabinette, Frequin rouge, Kermerrien, M.Menard, and D.Coetligne were clustered into the third group. The fourth group was mainly composed of 12 juice and fresh varieties. Principal coordinate analysis （PCO） also divided all the varieties into four groups. Juice and fresh apple varieties, Longfeng and Dolgo were clustered together, respectively, using both the analyses. Both the analyses showed there was much difference between cider and juice varieties, cider and fresh varieties, as well as Chinese crab apple and western European crab apple, whereas juice varieties and fresh varieties had a similar genetic background. The genetic diversity and differentiation could be sufficiently reflected by combining the two analytical methods.