Research Article

Related GMR Articles

12/02/2016

Translocation breakpoints of chromosome 4 in male carriers: clinical features and implications for genetic counseling.

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

CASE-REPORT Low-level trisomy 14 mosaicism in a male newborn with ectrodactyly.

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

Genetic variations of 21 STR markers on chromosomes 13, 18, 21, X, and Y in the south Iranian population.

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

Effect of ARMS2 gene polymorphism on intravitreal ranibizumab treatment for neovascular age-related macular degeneration.

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

Next-generation sequencing analysis of the ARMS2 gene in Turkish exudative age-related macular degeneration patients.

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

IL-8 -251A/T polymorphism contributes to coronary artery disease susceptibility in a Chinese population.

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

CASE-REPORT Dysregulation of gene expression in a patient with depressive disorder after transient ischemic attack confirmed by a neurophysiological neuromarker.

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

Association between C807T(C/T) polymorphism of platelet glycoprotein gene and sensitivity to ischemic stroke: a meta-analysis.

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

Analysis of the 19 Y-STR and 16 X-STR loci system in the Han population of Shandong province, China.

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
4/28/2017

Correlation analysis of serum obestatin expression with insulin resistance in childhood obesity.

Adolescent; Blood glucose; Case-control studies; Child; Female; Ghrelin; Humans; Insulin resistance; Lipoproteins; male; Obesity; Triglycerides

Childhood obesity is a serious public health concern condition, as excess body fat can negatively affect a child's health. Obestatin is a hormone that regulates body weight by suppressing appetite and reducing food intake; fasting obestatin level is negatively correlated with basal insulin level. This study aims to investigate the role of obestatin in insulin resistance. A total of 54 children ... more

M.Y. Zhang; F. Li; J.P. Wang

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