Human Heredity最新文献_第6页

The Association of Partial Azoospermia Factor C Deletions and Male Infertility in Northwestern China 中国西北地区部分无精子症因子C缺失与男性不育症的关系

IF 1.8 4区生物学

Human Heredity Pub Date : 2019-12-05 DOI: 10.1159/000504607

Chunlian Liu, Xinyang Zhao, Chunlan Mu, Hui Li, Jia Ma, Haiyan Jiao, Z. Huo

{"title":"The Association of Partial Azoospermia Factor C Deletions and Male Infertility in Northwestern China","authors":"Chunlian Liu, Xinyang Zhao, Chunlan Mu, Hui Li, Jia Ma, Haiyan Jiao, Z. Huo","doi":"10.1159/000504607","DOIUrl":"https://doi.org/10.1159/000504607","url":null,"abstract":"Background: Male infertility is a major health issue worldwide. Y chromosome microdeletions are well-characterized genetic causes of male infertility. The association of partial AZFc deletions (gr/gr, b2/b3, and b1/b3) with male infertility is not well confirmed in diverse populations. The purpose of the present study was to investigate the frequency of partial AZFc deletions and their association with male infertility in a population from Northwestern China. Methods: Multiplex polymerase chain reaction was used to detect partial AZFc deletions in 228 infertile patients. We analyzed 141 cases of azoospermia (AS), 87 cases of oligozoospermia (OS), and 200 fertile controls. Results: Our data showed that the frequency of a b2/b3 deletion in infertile men, men with AS, men with OS, and controls was 3.51, 2.13, 5.75, and 0.00%, respectively. The frequency of this deletion was significantly different between the infertile group and the control group (3.51 vs. 0.00%, respectively, p = 0.021) and between the OS group and the control group (5.75 vs. 0.00%, respectively, p = 0.003). The frequency of a gr/gr deletion in each group was 11.84, 9.22, 16.09, and 7.50%, respectively. The frequency of a gr/gr deletion was significantly different between the OS group and the control group (16.09 vs. 7.50%, respectively, p = 0.026) but not between the infertile group and the control group (11.84 vs. 7.50%, p = 0.132) or the AS group and the control group (9.22 vs. 7.50%, p = 0.569). The frequency of a b1/b3 deletion was 0.44, 0.71, 0.00, and 3.00%, respectively. For this deletion, there was no significant difference between the infertile (0.44 vs. 3.00%, p = 0.089), AS (0.71 vs. 3.00%, p = 0.276), and OS groups (0.00 vs. 3.00%, p = 0.236) and the control group. Conclusions: Our results suggest that the b2/b3 deletion might be associated with male infertility and that the gr/gr deletion might be associated with spermatogenic failure in men with OS in Northwestern China (Ningxia).","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"84 1","pages":"144 - 150"},"PeriodicalIF":1.8,"publicationDate":"2019-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000504607","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43775676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness MET基因在非综合征性常染色体隐性耳聋中的作用的进一步证据

IF 1.8 4区生物学

Human Heredity Pub Date : 2019-12-04 DOI: 10.1159/000503450

A. Bousfiha, Zied Riahi, L. Elkhattabi, A. Bakhchane, H. Charoute, K. Snoussi, C. Bonnet, C. Petit, A. Barakat

{"title":"Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness","authors":"A. Bousfiha, Zied Riahi, L. Elkhattabi, A. Bakhchane, H. Charoute, K. Snoussi, C. Bonnet, C. Petit, A. Barakat","doi":"10.1159/000503450","DOIUrl":"https://doi.org/10.1159/000503450","url":null,"abstract":"Mutations in the mesenchymal epithelial transition factor (MET) gene are frequently associated with multiple human cancers but can also lead to human non-syndromic autosomal recessive deafness (DFNB97). In the present study, we identified a novel homozygous missense mutation in the METgene causing a non-syndromic hearing impairment DFNB97 form. Whole-exome sequencing was performed to determine the genetic causes of hearing loss in a Moroccan consanguineous family with an affected daughter. The structural analysis of native and mutant in the SEMA domain of the MET receptor was investigated using a molecular dynamics simulation (MDS) approach. We identified a novel pathogenic homozygous c.948A>G (p.Ile316Met) mutation in the MET gene in one deaf Moroccan young girl carrying a total bilateral non-syndromic hearing impairment. The results of the MDS approach show that an Ile316Met mutation in the SEMA domain leads to protein flexibility loss. This may produce a major impact on the structural conformation of the MET receptor, which also affects the function and binding site of the receptor. This is the first time that a mutation in the MET gene is described in a Moroccan family. Moreover, this study reports the second family in the world associating deafness and mutation in the MET gene.","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"84 1","pages":"109 - 116"},"PeriodicalIF":1.8,"publicationDate":"2019-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000503450","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45141443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 5

Front & Back Matter 正面和背面

IF 1.8 4区生物学

Human Heredity Pub Date : 2019-11-01 DOI: 10.1159/000504896

Redaksi Redaksi

引用次数: 0

Influence of Estrogen Receptor Alpha Polymorphism on Bone Mineral Density in Iranian Children 雌激素受体α多态性对伊朗儿童骨密度的影响

IF 1.8 4区生物学

Human Heredity Pub Date : 2019-10-25 DOI: 10.1159/000502230

N. Montazeri-Najafabady, M. Dabbaghmanesh, Rajeeh Mohammadian Amiri, Zahra Mirzai

{"title":"Influence of Estrogen Receptor Alpha Polymorphism on Bone Mineral Density in Iranian Children","authors":"N. Montazeri-Najafabady, M. Dabbaghmanesh, Rajeeh Mohammadian Amiri, Zahra Mirzai","doi":"10.1159/000502230","DOIUrl":"https://doi.org/10.1159/000502230","url":null,"abstract":"Background: Bone mass acquisition in childhood is directly linked to adult bone mineral density (BMD) and fracture risk. BMD is a heritable trait, more than 70% of its variability among a population is affected by genetic factors. Objectives: In the present study, we wanted to investigate the association between estrogen receptor alpha (ESR1) polymorphisms, PvuII (rs2234693) and XbaI (rs9340799), and bone area, bone mineral content (BMC), and BMD of the lumbar spine, femoral neck, and also of the total body less the head in Iranian children. Methods: The ESR1 gene PvuII and XbaI genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism. Bone area, BMC, BMD, and bone mineral apparent density (BMAD) were assessed by dual-energy X-ray absorptiometry (DEXA). Linear regression was carried out to examine the effects of the ESR1 (PvuII and XbaI) polymorphisms on DEXA outputs when adjusted for confounding factors (i.e., age, sex, BMI, and pubertal stage) in 3 models. Results: ESR1 (PvuII) gene polymorphisms (CT vs. CC) showed significant effects on the BMC of the total body less the head in all 3 models. For ESR1 (XbaI), individuals with the AG genotype had higher lumbar spine BMD and lumbar spine BMAD compared to other genotypes. Conclusions: It seems that the PvuII and XbaI polymorphisms of ESR1 could be associated with BMC and BMD variation in Iranian children and adolescents.","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"84 1","pages":"82 - 89"},"PeriodicalIF":1.8,"publicationDate":"2019-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000502230","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47102739","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 5

Front & Back Matter 正面和背面

IF 1.8 4区生物学

Human Heredity Pub Date : 2019-09-01 DOI: 10.1159/000503430

W. Wiersinga, G. Kahaly, V. Blanchette, L. Brandão, V. Breakey, S. Revel-Vilk

引用次数: 0

Principal Component Analysis Based on Graph Laplacian and Double Sparse Constraints for Feature Selection and Sample Clustering on Multi-View Data 基于图拉普拉斯和双稀疏约束的主成分分析在多视图数据特征选择和样本聚类中的应用

IF 1.8 4区生物学

Human Heredity Pub Date : 2019-08-29 DOI: 10.1159/000501653

Ming-Juan Wu, Ying-Lian Gao, Jin-Xing Liu, Rong Zhu, Juan Wang

{"title":"Principal Component Analysis Based on Graph Laplacian and Double Sparse Constraints for Feature Selection and Sample Clustering on Multi-View Data","authors":"Ming-Juan Wu, Ying-Lian Gao, Jin-Xing Liu, Rong Zhu, Juan Wang","doi":"10.1159/000501653","DOIUrl":"https://doi.org/10.1159/000501653","url":null,"abstract":"Principal component analysis (PCA) is a widely used method for evaluating low-dimensional data. Some variants of PCA have been proposed to improve the interpretation of the principal components (PCs). One of the most common methods is sparse PCA which aims at finding a sparse basis to improve the interpretability over the dense basis of PCA. However, the performances of these improved methods are still far from satisfactory because the data still contain redundant PCs. In this paper, a novel method called PCA based on graph Laplacian and double sparse constraints (GDSPCA) is proposed to improve the interpretation of the PCs and consider the internal geometry of the data. In detail, GDSPCA utilizes L2,1-norm and L1-norm regularization terms simultaneously to enforce the matrix to be sparse by filtering redundant and irrelative PCs, where the L2,1-norm regularization term can produce row sparsity, while the L1-norm regularization term can enforce element sparsity. This way, we can make a better interpretation of the new PCs in low-dimensional subspace. Meanwhile, the method of GDSPCA integrates graph Laplacian into PCA to explore the geometric structure hidden in the data. A simple and effective optimization solution is provided. Extensive experiments on multi-view biological data demonstrate the feasibility and effectiveness of the proposed approach.","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"84 1","pages":"47 - 58"},"PeriodicalIF":1.8,"publicationDate":"2019-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000501653","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43266794","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

A Low-Rank Representation Method Regularized by Dual-Hypergraph Laplacian for Selecting Differentially Expressed Genes 用双超图拉普拉斯正则化的低秩表示方法选择差异表达基因

IF 1.8 4区生物学

Human Heredity Pub Date : 2019-08-29 DOI: 10.1159/000501482

Xiu-Xiu Xu, Lingyun Dai, Xiangzhen Kong, Jin-Xing Liu

{"title":"A Low-Rank Representation Method Regularized by Dual-Hypergraph Laplacian for Selecting Differentially Expressed Genes","authors":"Xiu-Xiu Xu, Lingyun Dai, Xiangzhen Kong, Jin-Xing Liu","doi":"10.1159/000501482","DOIUrl":"https://doi.org/10.1159/000501482","url":null,"abstract":"Differentially expressed genes selection becomes a hotspot and difficulty in recent molecular biology. Low-rank representation (LRR) uniting graph Laplacian regularization has gained good achievement in the above field. However, the co-expression information of data cannot be captured well by graph regularization. Therefore, a novel low-rank representation method regularized by dual-hypergraph Laplacian is proposed to reveal the intrinsic geometrical structures hidden in the samples and genes direction simultaneously, which is called dual-hypergraph Laplacian regularized LRR (DHLRR). Finally, a low-rank matrix and a sparse perturbation matrix can be recovered from genomic data by DHLRR. Based on the sparsity of differentially expressed genes, the sparse disturbance matrix can be applied to extracting differentially expressed genes. In our experiments, two gene analysis tools are used to discuss the experimental results. The results on two real genomic data and an integrated dataset prove that DHLRR is efficient and effective in finding differentially expressed genes.","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"127 8","pages":"21 - 33"},"PeriodicalIF":1.8,"publicationDate":"2019-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000501482","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41331149","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

A Novel Feature Selection Method for High-Dimensional Biomedical Data Based on an Improved Binary Clonal Flower Pollination Algorithm 基于改进二元克隆花授粉算法的高维生物医学数据特征选择方法

IF 1.8 4区生物学

Human Heredity Pub Date : 2019-08-29 DOI: 10.1159/000501652

Chaokun Yan, Jingjing Ma, Huimin Luo, Ge Zhang, Junwei Luo

引用次数: 21

Prediction of the RNA Secondary Structure Using a Multi-Population Assisted Quantum Genetic Algorithm 利用多种群辅助量子遗传算法预测RNA二级结构

IF 1.8 4区生物学

Human Heredity Pub Date : 2019-08-28 DOI: 10.1159/000501480

Sha Shi, Xin-Li Zhang, Xian-Li Zhao, Le Yang, Wei Du, Yun-Jiang Wang

引用次数: 10

PSO-CFDP: A Particle Swarm Optimization-Based Automatic Density Peaks Clustering Method for Cancer Subtyping PSO-CFDP：一种基于粒子群优化的癌症亚型自动密度峰值聚类方法

IF 1.8 4区生物学

Human Heredity Pub Date : 2019-08-14 DOI: 10.1159/000501481

Xuhui Zhu, J. Shang, Y. Sun, Feng Li, Jin-Xing Liu, Shasha Yuan

{"title":"PSO-CFDP: A Particle Swarm Optimization-Based Automatic Density Peaks Clustering Method for Cancer Subtyping","authors":"Xuhui Zhu, J. Shang, Y. Sun, Feng Li, Jin-Xing Liu, Shasha Yuan","doi":"10.1159/000501481","DOIUrl":"https://doi.org/10.1159/000501481","url":null,"abstract":"Cancer subtyping is of great importance for the prediction, diagnosis, and precise treatment of cancer patients. Many clustering methods have been proposed for cancer subtyping. In 2014, a clustering algorithm named Clustering by Fast Search and Find of Density Peaks (CFDP) was proposed and published in Science, which has been applied to cancer subtyping and achieved attractive results. However, CFDP requires to set two key parameters (cluster centers and cutoff distance) manually, while their optimal values are difficult to be determined. To overcome this limitation, an automatic clustering method named PSO-CFDP is proposed in this paper, in which cluster centers and cutoff distance are automatically determined by running an improved particle swarm optimization (PSO) algorithm multiple times. Experiments using PSO-CFDP, as well as LR-CFDP, STClu, CH-CCFDAC, and CFDP, were performed on four benchmark datasets and two real cancer gene expression datasets. The results show that PSO-CFDP can determine cluster centers and cutoff distance automatically within controllable time/cost and, therefore, improve the accuracy of cancer subtyping.","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"84 1","pages":"9 - 20"},"PeriodicalIF":1.8,"publicationDate":"2019-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000501481","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45683405","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 5