Research Article

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08/31/2017
Adult; Case-control studies; Female; Humans; Interleukin-17; Middle Aged; Polymorphism, Single Nucleotide; Uterine cervical neoplasms

Cervical cancer is a serious public health problem and is associated with high cancer-related mortality in females worldwide. The expression of IL17A can increase the migration and invasiveness of cervical cancer cells by activating the NF-κB signal pathway. Single-nucleotide polymorphisms (SNPs) can alter gene function and protein expression. We examined the association between two IL17A SNPs ... more

A.Q. Niu; Y.H. Cao; H. Wang; X. Zhang; B. Zhu; Z.H. Li
12/02/2016
Abortion, Spontaneous; Azoospermia; Chromosome Breakpoints; Chromosomes, Human, Pair 4; Female; Genetic counseling; Heterozygote; Humans; male; Oligospermia; Pregnancy; Translocation, Genetic

Cytogenetic analysis remains a powerful and cost-effective technology, and has wide applicability in genetic counseling for infertile males. Chromosomal rearrangements are thought to be one of the major genetic factors that influence male infertility. Some carriers with balanced reciprocal translocation have been identified as having oligozoospermia or azoospermia, and there is an association ... more

H.G. Zhang; R.X. Wang; Y. Pan; J.H. Zhu; L.T. Xue; X. Yang; R.Z. Liu
12/02/2016
Cesarean section; Chromosomes, Human, Pair 14; Cytogenetic Analysis; Female; Humans; Infant, Newborn; Intensive Care Units, Neonatal; Limb Deformities, Congenital; male; Mosaicism; Pregnancy; Trisomy

Complete trisomy 14 mosaicism is a rare chromosome disorder and was first reported in 1970. We describe a case of a male neonate who presented complete trisomy 14 mosaicism in only 4% of the cells from peripheral blood. A nineteen-day-old male neonate was born as result of the second pregnancy. The infant was delivered by cesarean section due to gestational hypertension and chronic fetal ... more

M.A. Rodrigues; L.F. Morgade; L.F.A. Dias; R.V. Moreira; P.D. Maia; A.F.H. Sales; P.D. Ribeiro
12/19/2016
Amniotic fluid; Chromosomes, Human; Chromosomes, Human, Pair 13; Chromosomes, Human, Pair 18; Chromosomes, Human, Pair 21; Chromosomes, Human, X; Chromosomes, Human, Y; Female; Gene frequency; Genetic variation; Humans; Iran; male; Microsatellite Repeats; Pregnancy; Prenatal diagnosis; White People

Quantitative fluorescent polymerase chain reaction (QF-PCR), in recent years, has been accepted as a rapid, high throughput, and sensitive method for prenatal diagnosis of common chromosomal aneuploidies. Since short tandem repeats (STRs) are the cornerstone of QF-PCR technique, selection of the most polymorphic STR markers is an essential step for a successful QF-PCR assay. The genetic ... more

J. Saberzadeh; M.R. Miri; M.B. Tabei; M. Dianatpour; M. Fardaei
12/19/2016
Female; Gene frequency; Genetic markers; Humans; Immunologic Factors; Intravitreal Injections; Macular Degeneration; male; Polymorphism, Genetic; Precision Medicine; Proteins; Ranibizumab; Sequence Analysis, DNA; Treatment outcome

Age-related macular degeneration (AMD) is a leading cause of blindness in developed countries. The ARMS2 gene has been found to be associated with AMD. Currently, intravitreal ranibizumab (IVR) treatment is one of the widely used treatments for neovascular AMD. The aim of this study was to investigate the association between the genotype of ARMS2 rs10490924 polymorphism and IVR treatment ... more

H. Bardak; Y. Bardak; Y. Ercalik; T. Kumral; S. Imamoglu; M. Gunay; H. Ozbas; O. Bagci
1/23/2017
Female; Genetic predisposition to disease; High-Throughput Nucleotide Sequencing; Humans; Macular Degeneration; male; Proteins; Risk; Turkey

Age-related macular degeneration (AMD) is the leading cause of blindness in developed countries. It is a complex disease with both genetic and environmental risk factors. To improve clinical management of this condition, it is important to develop risk assessment and prevention strategies for environmental influences, and establish a more effective treatment approach. The aim of the present ... more

H. Bardak; M. Gunay; Y. Ercalik; Y. Bardak; H. Ozbas; O. Bagci
2/16/2017
Asian People; Case-control studies; Coronary artery disease; Female; Gene frequency; Genetic association studies; Genetic predisposition to disease; Humans; Interleukin-8; male; Polymorphism, Single Nucleotide

Interleukin-8 (IL-8) is a mediator of inflammation and plays an important role in regulating immune responses. To date, several studies have tested the association between IL-8 gene polymorphisms and development of coronary artery disease (CAD), but their results have proved to be inconsistent. We conducted an investigation to assess the relationship between the IL-8 -251A/T (rs4073) sequence ... more

R.J. Zhang; X.D. Li; S.W. Zhang; X.H. Li; L. Wu
2/16/2017
C-reactive protein; Depressive Disorder; DNA-Binding Proteins; Gene Expression Regulation; Heat Shock Transcription Factors; HSP70 Heat-Shock Proteins; Humans; Interleukins; Ischemic Attack, Transient; male; Middle Aged; NF-kappa B; Stress, Psychological; Transcription factors

The aim of this study was to evaluate dysregulation of gene expression associated with the cellular stress response in a patient with a post-"warning stroke" depressive disorder confirmed by the presence of a neurophysiological neuromarker through the use of quantitative EEG and event-related potentials. The patient was tested for seven genes associated with the stress reaction: HSPA1A, HSPB1 ... more

M. Trystuła; M. Żychowska; M. Wilk-Frańczuk; J.D. Kropotov; M. Pąchalska
3/16/2017
Female; Genetic predisposition to disease; Humans; male; Odds Ratio; Platelet Membrane Glycoproteins; Polymorphism, Single Nucleotide; Stroke

Ischemic stroke can lead to loss of neurologic functions. It occurs due to obstruction in blood supply to the brain. It has been proposed that C807T(C/T) polymorphism within the platelet glycoprotein gene may be associated with density and function of glycoprotein Ia/IIa receptors and contributes to the pathogenesis of thrombotic disease. We assessed the association between C807T(C/T) and risk ... more

C. Luo; L.H. Fan; H. Zhang; J. Zhao; L. Li; L. Zhang; H.X. Zhang; M.M. Ma
3/30/2017
Alleles; Amelogenin; Asian People; China; Chromosomes, Human, X; Chromosomes, Human, Y; DNA fingerprinting; Ethnicity; Female; Forensic genetics; Gene frequency; Genetics, Population; Haplotypes; Humans; male; Microsatellite Repeats; Paternity; Polymorphism, Genetic

The sex-linked short tandem repeats (STR), Y-STR and X-STR, are important for autosomal STRs in forensic paternity testing. We evaluated the forensic parameters of 19 Y-STRs and 16 X-STRs in the Han population of Shandong province, China. A Goldeneye 20Y kit (DYS391, DYS389I, DYS390, DYS389II, DYS348, DYS456, Y-GATA-H4, DYS447, DYS19, DYS392, DYS393, DYS388, DYS439, DYS635, DYS448, DYS460, ... more

H.M. Gao; C. Wang; S.Y. Han; S.H. Sun; D.J. Xiao; Y.S. Wang; C.T. Li; M.X. Zhang

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