Research Article

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04/02/2013
Adventitious embryony; Aneuploidy; Apospory; Hybridization; Polyploidy; Sterility

Cassava is the most important staple crop in the Tropics and Subtropics. Apomixis may revolutionize its production due to various attributes. These potential advantages include production by true seed, maintaining cultivar superiority over generations without segregation, and avoiding contamination by bacteria and viruses. Historically, apomixis was initially observed by International ... more

D.Y.H. Freitas; N.M.A. Nassar
03/30/2015
Aneuploidy; Bladder cancer; Cohesin complex; Stromal antigen 2; Urologic neoplasms

The aim of this study was to determine how the function of human stromal antigen 2 (STAG2) plays an important role in proper chromosome separation. STAG2 mRNA in normal bladder cells and bladder tumor cells was evaluated by RT-PCR. The protein levels of STAG2 in normal bladder cells and bladder tumor cells were determined by western blot. A cell proliferation assay was used to measure the ... more

X. Li; T.W. Zhang; J.L. Tang; P.P. Fa; J.X. Lu; F.M. Qi; Z.M. Cai; C.X. Liu; X.J. Sun
06/30/2007
India; Neonatal jaundice; Prenatal diagnosis; Pyruvate kinase deficiency; Pyruvate kinase-Amish

Pyruvate kinase (PK) deficiency is a rare red cell glycolytic enzymopathy. The purpose of the present investigation was to offer prenatal diagnosis for PK deficiency to a couple who had a previous child with severe enzyme deficiency and congenital non-spherocytic hemolytic anemia. PK deficiency was identified in the family by assaying the enzyme activity in red cells. Chorionic villus ... more

P.S. Kedar; S. Nampoothiri; S. Sreedhar; K. Ghosh; K. Shimizu; H. Kanno; R.B. Colah
10/26/2011
Cell-free DNA; Maternal plasma; Prenatal diagnosis; RHD genotyping

Hemolytic disease of the newborn is a clinical condition in which maternal and paternal Rh blood group antigens are incompatible and the mother is negative for the antigen whereas the father is positive. Analysis of fetal cells recovered from maternal plasma can provide a highly sensitive prenatal diagnosis. The fetal RHD gene in plasma DNA is detected by real-time PCR ... more

T. Gunel; I. Kalelioglu; A. Gedikbasi; H. Ermis; K. Aydinli
02/15/2011
Array comparative genomic hybridization; Congenital diaphragmatic hernia; Genetic pathways; Prenatal diagnosis

Congenital diaphragmatic hernia (CDH) is a phenotypically and genetically heterogeneous disorder, with a complex inheritance pattern. Structural abnormalities of almost all chromosomes have been described in association with CDH. We made a molecular analysis through array comparative genomic hybridization (array CGH) of a group of fetuses with prenatal ultrasound diagnosis of CDH and ... more

I.N. Machado; J.K. Heinrich; R. Barini; C.F.A. Peralta
03/16/2010
Array comparative genomic hybridization; Corpus callosum agenesis; Dandy-Walker malformation; Partial trisomy 13q; Prenatal diagnosis; SKY

Partial trisomy 13q is an uncommon chromosomal abnormality with variable phenotypic expression. We report prenatal diagnosis of partial trisomy 13q in a fetus with partial agenesis of the cerebellar vermis, partial agenesis of the corpus callosum, hydrops and polyhydramnios. G-banding karyotyping, spectral karyotyping and array comparative genomic hybridization (aCGH) analysis of fetal ... more

I.N. Machado; J.K. Heinrich; C. Campanhol; R.M. Rodrigues-Peres; F.M. Oliveira; R. Barini
12/11/2013
chromosome; Klinefelter’s syndrome; Male infertility; Preimplantation genetic diagnosis; Prenatal diagnosis

The purpose of this study was to detect chromosomal aberrations and azoospermia factor (AZF) microdeletions in male patients with reproductive problems and to summarize related clinical features to provide reliable information for evaluating prenatal and preimplantation diagnoses. A large cohort of 5083 men with various phenotypes of male infertility was analyzed via G-banding karyotyping ... more

Q. Quan; T.J. Li; X.P. Ding; J. Wei; L.X. Li; L. Fu
04/12/2013
Ataxin 2; Autosomal dominant; Prenatal diagnosis; Quantitative PCR; Spinocerebellar ataxia type 2

We developed a new application of comparative multiplex dosage analysis (CMDA) for evaluation of the ataxin 2 gene. Expansions of the triplet CAG can cause spinocerebellar ataxia type 2 (SCA2), a neurodegenerative disease with an autosomal-dominant mode of inheritance. Molecular diagnosis of SCA2 is routinely based on the use of conventional PCR to detect the CAG expansion. However, PCR ... more

F. Calì; V. Chiavetta; A. Ragalmuto; M. Vinci; G. Ruggeri; P. Schinocca; V. Romano
08/06/2012
Genetic testing; Magnetic resonance imaging; Pelizaeus-Merzbacher disease; PLP1 gene; Prenatal diagnosis

Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder characterized by nystagmus, impaired motor development, ataxia, and progressive spasticity. Genetically defective or altered levels of proteolipid protein (PLP1) or gap-junction alpha protein 12 gene have been found to be a common cause. Here we report on two large Han Chinese families affected with this disease. The ... more

Y. Lv; L.H. Cao; H. Pang; L.N. Lu; J.L. Li; Y. Fu; S.L. Qi; Y. Luo; J. Li-Ling
10/31/2014
Abnormal chromosome diseases; Microarray; Prenatal diagnosis

The accuracy of prenatal diagnosis for abnormal chromosome diseases by chromosome microarray technology and karyotyping were compared. A literature search was carried out in the MEDLINE database with the keywords “chromosome” and “karyotype” and “genetic testing” and “prenatal diagnosis” and “oligonucleotide array sequence”. The studies obtained were filtered by using the QUADAS tool, ... more

H.B. Xu; H. Yang; G. Liu; H. Chen

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