Research Article

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Studies investigating the association between the CAG repeat polymorphism and the risk of isolated hypospadias have reported conflicting results. The aim of this study was to quantitatively summarize the evidence for such a relationship. Two investigators independently searched the Medline, Embase, CNKI, and Wanfang databases. Weighted mean difference and 95% confidence intervals for the ... more

G. Huang; W. Shan; L. Zeng; L. Huang
02/06/2015
AMPD1 gene; Cattle; Deletion mutation; Production traits

The objectives of the present study were to detect an 18-bp deletion mutation in the bovine adenosine monophosphate deaminase 1 (AMPD1) gene and analyze its effect on growth traits in 2 Chinese cattle breeds using DNA sequencing and agarose electrophoresis. The five 19-bp polymerase chain reaction products of the AMPD1 gene exhibited 3 genotypes and 2 alleles: WW: homozygote ... more

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Classification; Essential genes; Phenotype; Simulated annealing; Yeast

Analysis of gene deletions is a fundamental approach for investigating gene function. We evaluated an algorithm that uses classification techniques to predict the phenotypic effects of gene deletions in yeast. We used a modified simulated annealing algorithm for feature selection and weighting. The selected features with high weights were phylogenetic conservation scores for bacteria ... more

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Animal disease; Duchenne muscular dystrophy; Model; Phenotype

Duchenne muscular dystrophy (DMD) is a human disease characterized by progressive and irreversible skeletal muscle degeneration caused by mutations in genes coding for important muscle proteins. Unfortunately, there is no efficient treatment for this disease; it causes progressive loss of motor and muscular ability until death. The canine model (golden retriever muscular dystrophy) is similar ... more

C.E. Ambrósio; L. Fadel; T.P. Gaiad; D.S. Martins; K.P.C. Araújo; E. Zucconi; M.P. Brolio; R.F. Giglio; A.C. Morini; T. Jazedje; T.R. Froes; M.L.T. Feitosa; M.C. Valadares; P.C.B. Beltrão-Braga; F.V. Meirelles; M.A. Miglino
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Phenylalanine hydroxylase deficiency is a trait inherited in an autosomal recessive pattern; the associated phenotype varies considerably. This variation is mainly due to the considerable allelic heterogeneity in the phenylalanine hydroxylase enzyme locus. We examined the genotype-phenotype correlation in 54 phenylketonuria (PKU) patients from Minas Gerais, Brazil. Two systems were used. ... more

L.L. Santos; C.G. Fonseca; A.L.P. Starling; J.N. Januário; M.J.B. Aguiar; M.G.C.D. Peixoto; M.R.S. Carvalho
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Both BMP2 and BMP4 are involved in tooth development. We examined phenotypes and BMP2 and BMP4 gene variations in two Mexican oligodontia families. Physical and oral examinations and panoramic radiographs were performed on affected and unaffected members in these two families. The affected members lacked six or more teeth. DNA sequencing was performed to detect BMP2 and BMP4 gene ... more

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Androgen receptor; AR gene; Male infertility; Spermatogenesis; Teratozoospermia

The androgen receptor (AR) is a protein encoded by the AR gene, which when mutated may affect spermatogenesis, the process in which spermatozoa are produced; thus, AR mutations could lead to male infertility. We examined exon 1 of the AR gene in men with idiopathic infertility. Blood or semen samples from 111 infertile, oligozoospermic (N = 31), ... more

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Chinese SMA; Deletion mutation; SMN gene; Subtle mutation hotspot

Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases. Survival motor neuron1 (SMN1) is the SMA disease-determining gene. We examined the molecular basis of SMA in 113 Chinese SMA patients. Homozygous exon 7 and 8 deletions in SMN1 were detected by PCR-RFLP. Heterozygous deletion of SMN1 was analyzed based on variation of the ... more

W.L. Liu; F. Li; Z.X. He; R. Ai; H.W. Ma