Research Article

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12/02/2016
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
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
2/23/2017
Adolescent; Adult; Brazil; Cross-Sectional Studies; Cystathionine beta-Synthase; Epistasis, Genetic; Female; Folic acid; Gene frequency; Genetic predisposition to disease; Genotype; Heterozygote; Homocysteine; Homozygote; Humans; Linkage disequilibrium; male; Methylenetetrahydrofolate Reductase (NADPH2); Middle Aged; Polymorphism, Single Nucleotide; Risk factors; Thrombophilia; Thrombosis; Vitamin B 12; Young Adult

High plasma homocysteine (Hcy) ​​levels may be responsible for vaso-occlusive episodes and may have acquired and/or genetic causes. This cross-sectional study aimed to investigate the role of methylenetetrahydrofolate reductase (MTHFR; C677T; A1298C) and cystathionine-β-synthase (CBS; T833C/844ins68, G919A) polymorphisms in serum levels of folic acid, vitamin B12 and Hcy, and to verify a ... more

F.M. Amaral; A.L. Miranda-Vilela; G.S. Lordelo; I.F. Ribeiro; M.B. Daldegan; C.K. Grisolia
5/04/2017
Atherosclerosis; Case-control studies; Female; Genotype; Heterozygote; Humans; male; Middle Aged; Mutation, Missense; Nitric Oxide Synthase Type III; Polymorphism, Single Nucleotide

Atherosclerotic and its cardiovascular complications are responsible for 17.5 million deaths a year, according to the World Health Organization. There is consensus that atherosclerosis involves multiple pathogenic processes initiated by endothelial dysfunction, with inflammation and vascular proliferation determining alterations in the matrix, with consequent formation of the atheromatous ... more

F.L. Campedelli; K.S.F.E. Silva; D.A. Rodrigues; J.V.M. Martins; I.R. Costa; M.H. Lagares; A.M. Barbosa; M.P. de Morais; K.K.V.O. Moura
09/27/2017
Acute coronary syndrome; Aged; Case-control studies; Female; Genotype; Heterozygote; Humans; male; Mexico; Middle Aged; Peptidyl-Dipeptidase A; Polymorphism, Single Nucleotide

Acute coronary syndrome (ACS) is considered one of the main causes of death worldwide. Contradictory findings concerning the impact of the angiotensin-converting enzyme (ACE) gene on cardiovascular diseases have been reported. Previous conclusions point out that the variability in results depends on ethnicity and genetic polymorphisms to determine the association of rs4340 polymorphisms of the ... more

A. Valdez-Haro; Y. Valle; E. Valdes-Alvarado; F. Casillas-Muñoz; J.F. Muñoz-Valle; G.L. Reynoso-Villalpando; H.E. Flores-Salinas; J.R. Padilla-Gutiérrez
3/22/2017
Animals; Base Sequence; Cattle; Female; Fertility; Genome; male; Polymorphism, Single Nucleotide; Pregnancy; Puberty; RNA; Selection, Genetic; Sequence Analysis, RNA; Sexual Maturation

Fertility traits, such as heifer pregnancy, are economically important in cattle production systems, and are therefore, used in genetic selection programs. The aim of this study was to identify single nucleotide polymorphisms (SNPs) using RNA-sequencing (RNA-Seq) data from ovary, uterus, endometrium, pituitary gland, hypothalamus, liver, longissimus dorsi muscle, and adipose tissue in 62 ... more

M.M. Dias; A. Cánovas; C. Mantilla-Rojas; D.G. Riley; P. Luna-Nevarez; S.J. Coleman; S.E. Speidel; R.M. Enns; A. Islas-Trejo; J.F. Medrano; S.S. Moore; M.R.S. Fortes; L.T. Nguyen; B. Venus; I.S.D.P. Diaz; F.R.P. Souza; L.F.S. Fonseca; F. Baldi; L.G. Albuquerque; M.G. Thomas; H.N. Oliveira
12/02/2016
Adult; Alanine; Arginine; Asian People; 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
12/02/2016
Adult; Aged; Aged, 80 and over; Asian People; 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
12/02/2016
Actinin; Adult; Ankle Injuries; Asian People; 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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