Research Article

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07/31/2006
Buccal cells; DNA extraction; Fragile X syndrome; Mental retardation

Fragile X syndrome is one of the most frequent causes of mental retardation. Since the phenotype in this syndrome is quite variable, clinical diagnosis is not easy and molecular laboratory diagnosis is necessary. Usually DNA from blood cells is used in molecular tests to detect the fragile X mutation which is characterized by an unstable expansion of a CGG repeat in the fragile X ... more

D.M. Christofolini; M.V.N. Lipay; M.A.P. Ramos; D. Brunoni; M.I. Melaragno
09/21/2011
Array-CGH; Hypernasal speech; Mental retardation; Microduplication 22q11.2; Temporal hair loss

We present a 12-year-old girl with karyotype 46,XX. A comparative genomic hybridization array revealed a 3.172-Mb microduplication on 22q11.2. This chromosome 22q11.2 region microduplication has been described in patients with variable phenotypes; a large majority of them have identical 3-Mb duplications. The girl presented mild mental motor retardation, facial dysmorphism consisting of a long ... more

Y. Soysal; J. Vermeesch; N.A. Davani; N. Şensoy; K. Hekimler; N. Imirzalıoğlu
08/13/2012
Congenital heart defect; High-resolution single nucleotide polymorphism; Mental retardation; Sleeping disturbance; Smith-Magenis syndrome

Smith-Magenis syndrome (SMS) is a rare syndrome with multiple congenital malformations, including development and mental retardation, behavioral problems and a distinct facial appearance. SMS is caused by haploinsufficiency of RAI1 (deletion or mutation of RAI1). We describe an eight-year-old female Chinese patient with multiple malformations, congenital heart defect, ... more

C. Huang; Y.F. Yang; H. Zhang; L. Xie; J.L. Chen; J. Wang; Z.P. Tan; H. Luo
04/13/2005
DNA; Minisequencing; Multiplex; Polymorphisms; Single nucleotide polymorphisms

Several technologically sophisticated high-throughput techniques have been recently developed for the study of human single nucleotide polymorphisms and the diagnosis of point mutations in human diseases. However, there is also a need for simple and inexpensive techniques suitable for clinical services and small research laboratories. Minisequencing meets the latter requirements. It is ... more

C.M.B. Carvalho; S.D.J. Pena
11/17/2009
Genetic polymorphisms; Lipid profile; Marker assisted selection; Molecular markers; Nellore cattle; Single nucleotide polymorphisms
F.M. Rezende
07/21/2009
Animal breeding; DNA sequencing; Double muscling; Meat production; Single nucleotide polymorphisms

The myostatin gene, also known as GDF8 (growth dif­ferentiation factor 8), is located on bovine chromosome 2 (BTA2); it has three exons and two introns. Myostatin is specifically expressed during embryonic development and in adult skeletal muscle, func­tioning as a negative regulatory protein. Several cattle breeds (Pied­montese, Belgian Blue and Blond’Aquitaine, and others) show poly­ ... more

A.B. Grisolia; G.T. D’Angelo; L.R.Porto Neto; F. Siqueira; J.F. Garcia
07/14/2009
Bioinformatics; Expressed sequence tags; Single nucleotide polymorphisms; Witches’ broom disease

In order to increase the efficiency of cacao tree resistance to witches’ broom disease, which is caused by Moniliophthora perniciosa (Tricholomataceae), we looked for molecular markers that could help in the selection of resistant cacao genotypes. Among the different markers useful for developing marker-assisted selection, single nucleotide polymorphisms (SNPs) constitute the ... more

L.S. Lima; K.P. Gramacho; N. Carels; R. Novais; F.A. Gaiotto; U.V. Lopes; A.S. Gesteira; H.A. Zaidan; J.C.M. Cascardo; J.L. Pires; F. Micheli
01/20/2009
Beef cattle; Bos indicus; Carcass traits; Single nucleotide polymorphisms; Tenderness

Data from purebred Brahman steers (N = 467) were used to study the association of single nucleotide polymorphisms (SNP) with carcass traits and measures of tenderness. Fall weaned calves were grazed and fed in a subtropical environment and then harvested for processing in a commercial facility. Carcass data were recorded 24 h postmortem. Muscle samples and primal ribs were obtained to measure ... more

T. Smith; M.G. Thomas; T.D. Bidner; J.C. Paschal; D.E. Franke
11/02/2008
Major histocompatibility complex; Poultry; Single nucleotide polymorphisms; TAP1; TAP2

TAP1 and TAP2 genes code for the two subunits of the transporter associated with antigen processing (TAP), and in chicken they are located between the two MHC class I genes. Using primers based on chicken sequences, the genomic regions corresponding to chicken TAP1 exons 6 to 7 and TAP2 exons 4 to 6 (which encode portions of the chicken TAP1 and ... more

L. Sironi; B. Lazzari; P. Ramelli; A. Stella; P. Mariani
11/02/2008
Biological control; Differential display reverse transcriptase; Expressed sequence tag; Nematophagous; Single nucleotide polymorphisms

The technology of mRNA-based differential display reverse transcriptase-polymerase chain reaction (DDRT-PCR) was used to detect a 246-bp differentially expressed fragment from the nematophagous fungus Arthrobotrys oviformis when young mycelia were induced with the round worm Haemonchus contortus. The fragment was converted into an expressed sequence tag (EST) through ... more

A. Nagee; A. Acharya; A. Shete; P.N. Mukhopadhyaya; B.A. Aich

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