Research Article

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11/19/2015
Mutation; Phenylalanine hydroxylase gene; Phenylketonuria; Prenatal diagnosis

The aim of this study is to investigate the ability to prenatally diagnose phenylketonuria (PKU) by using phenylalanine hydroxylase (PAH) gene mutation analysis combined with short tandem repeat (STR) linkage analysis in 118 fetuses from 112 Chinese families. Genomic DNA was extracted from the peripheral blood from members of 112 families and the exons and exon-intron boundaries of the ... more

N. Liu; X.D. Kong; D.H. Zhao; Q.H. Wu; X.L. Li; H.F. Guo; L.X. Cui; M. Jiang; H.R. Shi
03/11/2016
male; Mutation; Polymerase chain reaction; Steroid-resistant nephrotic syndrome; WT1

Mutations in the Wilms’ tumor gene, WT1, can lead to syndromic steroid-resistant nephrotic syndrome and isolated steroid-resistant nephrotic syndrome. WT1 mutations have been identified in the majority of children with Denys-Drash or Frasier syndrome. WT1 mutations have not previously been identified in boys with sporadic isolated steroid-resistant nephrotic ... more

Y. Yang; F. Zhao; X. Tu; Z. Yu; Y. Yang; F. Zhao; X. Tu; Z. Yu
11/03/2016
Keratoconus; Mutation; Next-generation sequencing; VSX1

The aim of this study was to screen the visual system homeobox 1 (VSX1) gene in Turkish patients with keratoconus (KC). The patient group consisted of 44 patients who had undergone corneal transplant surgery before the age of 30, for advanced and rapidly progressive KC. The control group comprised 250 healthy individuals. We ... more

H. Bardak; M. Gunay; E. Yildiz; Y. Bardak; B. Gunay; H. Ozbas; O. Bagci
12/19/2016
Adult; Arginine; Asian People; 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
12/19/2016
Brazil; Cystic fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Early Diagnosis; Gene flow; Gene frequency; Genetic counseling; Healthy Volunteers; Humans; Mutation; White People

The ΔF508 mutation is the most common cause of cystic fibrosis and its prevalence varies worldwide. For instance, up to 20-fold variations in its frequency have been recorded across different areas of Brazil. This study aimed to compare the distribution of ΔF508 among healthy individuals of admixed Portuguese descent from Espírito Santo (ES), a state in Southeastern Brazil, to that in a ... more

A.M. Lanes; L.S. Louro; D.P. Ventorim; E. Stur; F.M. Garcia; L.P. Agostini; L.N.R. Alves; R.S. Reis; I.D. Louro; R.S. Dettogni
12/23/2016
Comparative genomic hybridization; DNA Copy Number Variations; Gamma rays; Gene expression; Genetic association studies; Mutation; Oryza; Phenotype

Comparative genomic hybridization (CGH) is a powerful tool used to analyze changes in copy number, polymorphisms, and structural variations in the genome. Gene copy number variation (CNV) is a common form of natural diversity in the genome, which can create new genes and alter gene structure. Thus, CNVs may influence phenotypic variation and gene expression. In this study, to detect CNVs, we ... more

J.E. Hwang; S.H. Kim; I.J. Jung; S.M. Han; J.W. Ahn; S.J. Kwon; S.H. Kim; S.Y. Kang; D.S. Kim; J.B. Kim
12/23/2016
Fruit; Gene expression profiling; Gene Expression Regulation, Plant; Mutation; Prunus persica; Transcriptome

Fruit ripening is a complex developmental process, the details of which remain largely unknown in fleshy fruits. In this paper, the fruit flesh of two peach varieties, "Zhongyou9" (a nectarine; Prunus persica L. Batsch) and its mutant "Hongyu", was analyzed by RNA-seq technology during two stages of ripening at 20-day intervals. One hundred and eighty significant upregulated and two hundred ... more

H.F. Pan; Y. Sheng; Z.H. Gao; H.L. Chen; Y.J. Qi; X.K. Yi; G.H. Qin; J.Y. Zhang
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
2/23/2017
cluster analysis; Fruit; Genetic variation; Genotype; Hybridization, Genetic; Microsatellite instability; Microsatellite Repeats; Musa; Mutation; Plant breeding; Reproducibility of Results; Species Specificity

Banana (Musa spp) is a fruit species frequently cultivated and consumed worldwide. Molecular markers are important for estimating genetic diversity in germplasm and between genotypes in breeding programs. The objective of this study was to analyze the genetic diversity of 21 banana genotypes (FHIA 23, PA42-44, Maçã, Pacovan Ken, Bucaneiro, YB42-47, Grand Naine, Tropical, FHIA 18, PA94-01, YB42 ... more

A.V.C. Silva; A.L.S. Nascimento; M.F. Vitória; A.R.C. Rabbani; A.N.R. Soares; A.S. Lédo
2/23/2017
Capsicum; Cytoplasm; Fertility; Flowers; Genes, Plant; Genetic markers; Genotype; Hybridization, Genetic; Meristem; Mutation; Phenotype; Plant breeding; Plant Infertility; Reproducibility of Results; seeds

Cytoplasmic male sterility (CMS) in pepper is a better way to produce hybrid seeds compared to manual production. We used the two sequence characterized amplified region (SCAR) markers (CRF-SCAR and CMS-SCAR) in CMS pepper, to identify the genotype. We assembled two CMS yellow bud mutants (YBM; YBM12-A and YBM12-B). This mutation in leaf color is controlled by a single dominant nuclear gene. ... more

G.S. Sun; Z.L. Dai; P.W. Bosland; Q. Wang; C.Q. Sun; Z.C. Zhang; Z.H. Ma

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