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Medical Genetics

Medical Genetics   Original Articles

Electrophoretic and chromatographic profile for â??S-likeâ? hemoglobin (Perfil eletrofor?©tico e cromatogr?¡fico das hemoglobinas â??S-likeâ?)

Authors: Luciana de Souza Ondei

Hemoglobin variants originate mainly by simple amino acid substitutions, the result of nucleotide sequence changes. Recently, the number of known abnormal hemoglobins has increased due to improvement in analysis methodologies; however, many laboratories are not prepared to correctly identify mutants. Hb S is a very well-charac.. Read More»

Genet. Mol. Res. 5(1):
Medical Genetics   Research Article

Pterostilbene as treatment for severe acute pancreatitis

Authors: Y.J. Lin, Y. Ding, J. Wu and B.T. Ning

Acute pancreatitis (AP) has a fast onset and progression, which lead to an unfavorable prognosis. Therefore, the development of novel drugs for its treatment is critical. As a homologous derivative of resveratrol, pterostilbene exerts a variety of effects including anti-inflammatory, antioxidant, and antitumor effects. This study investigated the potentia.. Read More»

Genet. Mol. Res. 15(3):
gmr.15038330
DOI:
10.4238/gmr.15038330
Medical Genetics   Review Article

The time has come: a new scene for PKU treatment

Authors: Luciana Lara dos Santos, Myrian de Castro Magalh?£es, Jos?© N?©lio Janu?¡rio, Marcos Jos?© Burle de Aguiar and Maria Raquel Santos Carvalho

Phenylketonuria (PKU) is one of the few genetic diseases in which mental retardation can be prevented. Hence, diagnosis and treatment must be established early. PKU treatment consists of a phenylalanine-restricted diet supplemented with a phenylalanine-free mixture of amino acids. However, it is difficult to adhere to this die.. Read More»

Genet. Mol. Res. 5(1):
Medical Genetics   Research Article

Frequencies of phenylalanine hydroxylase mutations I65T, R252W, R261Q, R261X, IVS10nt11, V388M, R408W, Y414C, and IVS12nt1 in Minas Gerais, Brazil

Authors: Luciana Lara dos Santos, Myrian de Castro Magalh?£es, Adriana de Oliveira Reis, Ana L?ºcia Pimenta Starling, Jos?© N?©lio Janu?¡rio, Cleusa Gra?§a da Fonseca, Marcos Jos?© Burle de Aguiar and Maria Raquel Santos Carvalho

In order to determine the phenylketonuria (PKU) mutation spectrum in the population of Minas Gerais State, Brazil, 78 unrelated PKU patients found by the neonatal screening program from 1993 to 2003 were tested for nine phenylalanine hydroxylase mutations. These mutations were selected due to their high frequencies in other Br.. Read More»

Genet. Mol. Res. 5(1):
Medical Genetics   Research Article

cDNA cloning, characterization, and pharmacologic evaluation of anticancer activity of a lectin gene in Pinellia integrifolia

Authors: L.L. Liu, Z.J. Yang and Z.S. Peng

Plant lectins are proteins that possess at least one non-catalytic domain, which could reversibly bind to specific monosaccharides or oligosaccharides. The important roles played by plant lectins in immune regulation, signaling pathways, and plant defense could be attributed to their specific binding activities with carbohydrates. In this study, a Pinelli.. Read More»

Genet. Mol. Res. 15(3):
gmr.15038516
DOI:
10.4238/gmr.15038516
Medical Genetics   Research Article

Genetic characterization and authentication of Dimocarpus longan Lour. using an improved RAPD technique

Authors: Z.Q. Mei, S.Y. Fu, H.Q. Yu1, L.Q. Yang, C.G. Duan, X.Y. Liu, S. Gong1 and J.J. Fu

Dimocarpus longan Lour. is an edible and traditional herb in China, commonly referred to as longon. An improved randomly amplified polymorphic DNA (RAPD) protocol was here developed in order to determine the geographical origins of D. longan samples collected from 5 provinces in the southern and southwestern areas of China, in.. Read More»

Genet. Mol. Res. 13(1):
http://dx.doi.org/2014.March.6.3
DOI:
http://dx.doi.org/10.4238/2014.March.6.3
Medical Genetics   Research Article

Structural and biochemical characteristics of chitin-binding protein SeCBP66 from Spodoptera exigua (H?¼bner)

Authors: D. Zhao, B. Liu, Y.K. Zhang, W. Guo, S.Y. Li, X.J. Lu and R.J. Li

Peritrophic membrane proteins are important components of the insect peritrophic membrane. A novel cDNA gene encoding a chitin-binding protein, named secbp66, was identified by immunization screening of the cDNA library of Spodoptera exigua. The full length of secbp66 is 1806 bp, which encodes 602 amino acids. The predicted weight of the protein is 64.2 k.. Read More»

Genet. Mol. Res. 15(3):
gmr.15038789
DOI:
10.4238/gmr.15038789
Medical Genetics   Research Article

Molecular cloning and immune response analysis of putative variable lipoproteins from Mycoplasma mycoides subsp capri

Authors: C.G. Xu, Y.Q. Hao, L. Zhang, R.X. Hao, X.L. Liu and Z.Y. Huang

Mycoplasma mycoides subsp capri is the cause of goat “MAKePS” (Mastitis, Arthritis, Keratoconjunctivitis, Pneumonia, Septicemia) syndrome. We identified three genes (GL_ 000459; 000461; 000462) as variable lipoprotein genes in the M. mycoides subsp capri str. PG3 genome by genomic information and comparative genomi.. Read More»

Genet. Mol. Res. 13(1):
http://dx.doi.org/2014.March.12.5
DOI:
http://dx.doi.org/10.4238/2014.March.12.5
Medical Genetics   Research Article

Characterization of the complete mitochondrial genome of Portunus pelagicus with implications for phylogenomics

Authors: C.Y. Ma, H.Y. Ma, G.J. Ren, W. Wang, W. Chen, J.X. Lu, X. Zou and L.B. Ma

This study determined the mitochondrial genome structure of the blue swimming crab (Portunus pelagicus), and elucidated its phylogenetic relationships among the species within the order Decapoda. The complete mitochondrial genome was 16,155 bp long, and contained 13 protein-coding genes, 22 transfer RNA genes, 2 ribosomal RNA genes, and 1 DNA control regi.. Read More»

Genet. Mol. Res. 15(3):
gmr.15038719
DOI:
10.4238/gmr.15038719
Medical Genetics   Research Article

Comparison of methods to preserve Rheum palmatum (Polygonaceae) for efficient DNA extraction and PCR amplification

Authors: M. Huang, X.J. Sun, Y. Zhou and X.M. Wang

In this study, we compared the quality of DNA extracted using the modified CTAB method, from Rheum palmatum leaves preserved using fourteen different methods, including ones used commonly in other species: under ultra-cold (-80°C) temperatures, after drying with an absorbent paper, desiccating using a silica gel, drying at 60°C, in 70% ethanol, ab.. Read More»

Genet. Mol. Res. 15(3):
gmr.15038019
DOI:
10.4238/gmr.15038019