Research Article

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2016 Dec 19
Adult; Arginine; Asians; Case-control studies; Collagen Type IX; Female; Genetic predisposition to disease; Glutamine; Humans; Intervertebral disc degeneration; Intervertebral Disc Displacement; male; Middle Aged; Mutation

Intervertebral disc disease is a multifactorial condition, yet disease pathogenesis that can be promoted by a single dominant mutation affecting the expression of susceptibility genes. We performed a case-control study to assess the influence of the COL9A2 Gln326Arg polymorphism on risk of intervertebral disc disease in a Chinese population. Between March 2014 and March 2015, a total of 215 ... more

T. Meng; Q. Ren; J.M. Wang; H. Shi; S.T. Zhang; M.T. Liu
2/16/2017
Adult; Aged; Aged, 80 and over; Arabs; Colorectal neoplasms; Exons; Female; Humans; male; Middle Aged; Mutation; Mutation Rate; Prognosis; Proto-Oncogene Proteins p21(ras); Retrospective Studies; Saudi Arabia; Survival analysis; Young Adult

Mutations in codons 12/13 of K-ras exon 2 are associated with reduced benefit from anti-epidermal growth factor receptor antibody treatment for metastatic colorectal cancer (CRC). Here, we evaluated the frequency of K-ras mutations and their relationship with clinicopathological features and treatment outcomes in Saudi Arabian patients with CRC. The genetic status of K-ras was determined in ... more

J. Zekri; A. Al-Shehri; M. Mahrous; S. Al-Rehaily; T. Darwish; S. Bassi; E. Taani; A. Zahrani; S. Elsamany; J. Al-Maghrabi; B.B. Sadiq
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Biomarkers, Tumor; Carcinoma, Signet Ring Cell; CDX2 Transcription Factor; Codon; Female; Genes, ras; Humans; male; Middle Aged; Mucins; Mutation; Mutation Rate; Neoplasm Metastasis; Phenotype; Stomach neoplasms

We aimed to analyze gastric signet ring cell (SRC) carcinoma subtypes by investigating gastric and intestinal phenotypic marker expression, and explore the relationship between phenotype and K-ras mutation. Immunohistochemistry was performed on 163 SRC carcinoma patient specimens to detect gastric (MUC1, MUC5AC, and MUC6) and intestinal (MUC2 and CDX2) phenotypic markers, and tumors were ... more

Z.F. Xiong; J. Shi; Z.H. Fu; H.P. Wan; L.X. Tu
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APC; Coronary heart disease; male; rs383830

APC is a tumor suppressor gene that is involved in the processes of cell migration and adhesion, transcriptional activation, and apoptosis. The goal of this study was to evaluate the contribution of the APC rs383830 polymorphism to coronary heart disease (CHD) in Han Chinese. A total of 783 patients with CHD and 737 controls were tested in the current association study. Although ... more

J.Y. Zhong; X.W. Zheng; H.D. Ye; H.B. Cui; W.P. Du; Z.X. Zhang; X.H. Fei; S.Y. Lin; J. Wang; J. Su; X.M. Chen; S.W. Duan
2016 Dec 02
Asians; Child; Chromosome Deletion; Chromosomes, Human, Pair 2; Fingers; Heart Defects, Congenital; Hedgehog Proteins; Humans; Karyotype; male; Syndactyly; Waardenburg Syndrome

Reports of terminal and interstitial deletions of the long arm of chromosome 2 are rare in the literature. Here, we present a case report concerning a Chinese boy with a 47,XYY karyotype and a de novo deletion comprising approximately 5 Mb between 2q35 and q36.1, along with syndactyly, type III Waardenburg syndrome, and congenital heart disease. High-resolution chromosome analysis to detect ... more

D. Wang; G.F. Ren; H.Z. Zhang; C.Y. Yi; Z.J. Peng
12/02/2016
Animal Shells; Animals; Bivalvia; Breeding; Evolution, Molecular; Female; Fresh Water; Genetic variation; Genetics, Population; male; Microsatellite Repeats; Phenotype; Phylogeny; Quantitative trait loci

Four Hyriopsis cumingii populations, a breeding population (BP), a cultured population (FP), two wild populations from Poyang Lake (PY) and Dongting Lake (DT), and an H. schlegelii population were collected (JX), and the first filial generations (F1) were bred synchronously. The shell nacre polymorphisms, population genetic diversity, and genetic structures of the F1 of each population were ... more

L.M. Wu; Z.Y. Bai; X.J. Liu; C. Jin; H. Yin; J.L. Li
2016 Dec 02
Adult; Alanine; Arginine; Asians; Diabetes Mellitus, Type 2; Female; Genetic predisposition to disease; Genotype; Glutamine; Humans; Leucine; male; Middle Aged; Polymorphism, Single Nucleotide; Regression Analysis; Superoxide dismutase; Threonine

The most common type of endocrine disease is type 2 diabetes mellitus (T2DM); genetic factors contribute to the development to T2DM. In this study, we investigated the role of the Leu53Leu, Arg213Gly, and Ala40Thr polymorphisms in extracellular superoxide dismutase (EC-SOD) gene in the development of T2DM in a Chinese population. DNA was extracted from peripheral blood samples obtained from ... more

Y.M. Yang; X.R. Xie; A.L. Jin
2016 Dec 02
Adult; Aged; Aged, 80 and over; Asians; China; Chromosome aberrations; Chromosomes, Human; Female; Humans; Karyotyping; Lymphoma, Non-Hodgkin; male; Middle Aged; Young Adult

The incidence of non-Hodgkin lymphoma (NHL) in China is increasing and is attracting attention as a topic of research. The percentage of NHL cases in ethnic Uighur people is also gradually increasing. We therefore recruited Uighur people with NHL to investigate the correlation between genetic alternations and clinical/pathological features in an attempt to determine their clinical significance ... more

L. Xu; X.G. Zou; X. Wang; A.B.L.M.T. Hairesa; J.J. Liu
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Actinin; Adult; Ankle Injuries; Asians; China; Female; Gene frequency; Genetic association studies; Genetic predisposition to disease; Humans; male; Polymorphism, Single Nucleotide; Young Adult

In this study, we investigated the association between ACTN3 R577X polymorphism and non-acute ankle sprain by measuring the allele frequency and genotype distribution of ACTN3 in a Chinese Han population. We recruited 100 patients with non-acute ankle sprain and 100 healthy controls with no history of ankle injuries. Mass spectrometric analysis of single nucleotide polymorphism was used to ... more

B. Qi; J.Q. Liu; G.L. Liu
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Azoospermia; Chromosome aberrations; Cytogenetic Analysis; Genetic counseling; Heterozygote; Humans; Live Birth; male; Oligospermia

Chromosomal abnormality is the most common genetic cause of infertility. Infertility, as a psychological problem, has received an increasing amount of attention. Psychological interventions have been shown to have beneficial effects on infertile patients with chromosomal abnormalities. The present study explored reproductive outcome of male carriers of chromosomal abnormalities, who accepted ... more

K.M. Guo; B. Wu; H.B. Wang; R.H. Tian

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