Mutation
Analysis of the BRAF V600E mutation in primary cutaneous melanoma
Authors: J.S.S. Inumaru1, K.I.F. Gordo, A.C. Fraga Junior, A.M.T.C. Silva, C.B.Q.S. Leal, F.M. Ayres, I.J. Wastowski, N.F. Borges and V.A. Saddi
BRAF V600E is the most common mutation in cutaneous melanomas, and has been described in 30-72% of such cases. This mutation results in the substitution of valine for glutamic acid at position 600 of the BRAF protein, which consequently becomes constitutively activated. The present study investigated the BRAF V600E mutation fr.. Read More»
- Genet. Mol. Res. 13(2):
- 2014.January.22.8
- DOI:
- 10.4238/2014.January.22.8
A new single nucleotide polymorphism in the ryanodine gene of chicken skeletal muscle
Authors: A.A. Droval, E. Binneck, S.R.R. Marin, F.G. Pai�£o1, A. Oba, A.L. Nepomuceno and M. Shimokomaki
Some genes affect meat quality in chickens. We looked for polymorphisms in the Gallus gallus α-RyR gene (homologous to RyR 1) that could be associated with PSE (pale, soft and exudative) meat. Because RyR genes are over 100,000 bp long and code for proteins with about 5000 amino acids, primers were designed to amplify a .. Read More»
- Genet. Mol. Res. 11(2):
- 2012.April.3.4
- DOI:
- 10.4238/2012.April.3.4
Genetic dissimilarity and selection of putative mutants of Terra Maranh�£o plantain cultivar using the Ward-MLM strategy
Authors: R.V. Reis, E.P. Amorim, V.B.O. Amorim, C.F. Ferreira, R.K.N. Pestana, C.A.S. Ledo, Z. Gon�§alves and A. Bor�©m
The objective of this study was to evaluate genetic variability and select putative mutants of Terra Maranhão plantain cultivar (AAB genome) subjected to gamma radiation based on agronomic data and inter simple sequence repeat molecular marker profiles using the Ward-MLM strategy. A total of 233 irradiated plants and 41.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.November.30.11
- DOI:
- 10.4238/2015.November.30.11
Pyridoxal 5�-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report
Authors: M. Veeravigrom1,2, P. Damrongphol1,2, R. Ittiwut3,4, C. Ittiwut3,4,K. Suphapeetiporn3,4 and V. Shotelersuk3,4
Pyridoxal 5'-phosphate (PLP)-responsive epilepsy is a rare autosomal recessive epileptic disorder caused by deficiency of pyridox(am)-ne 5'-phosphate oxidase (PNPO). Neonatal onset seizures in PLP responsive epilepsy are usually resistant to common anticonvulsants and pyridoxine, but respond to PLP. Various PNPO mutations are associated with this disorder.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.October.29.34
- DOI:
- 10.4238/2015.October.29.34
Prenatal diagnosis of Chinese families with phenylketonuria
Authors: N. Liu1, X.D. Kong1, D.H. Zhao2, Q.H. Wu1, X.L. Li2, H.F. Guo4, L.X. Cui4,M. Jiang1 and H.R. Shi3
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 an.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.November.18.25
- DOI:
- 10.4238/2015.November.18.25
Mutation analysis of four Chinese families with pure hereditary spastic paraplegia: pseudo- X-linked dominant inheritance and male lethality due to a novel ATL1 mutation
Authors: N. Zhao, Y. Sui, X.F. Li, W. Liu, Y.P. Lu, W.H. Feng, C. Ma, Y.W. Wang, H.X. Bao, F. Huang, H. Wang, D.X. Yi, W.T. Han and M. Jiang
We studied four Chinese families with pure hereditary spastic paraplegia (HSP) to investigate the clinical features and associated genetic mutations. Linkage analysis was performed for all families to map the disease locus onto autosomal chromosomes, and related loci involved in HSP on the X chromosome were also examined. Polymerase chain reaction (PCR) s.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.November.18.33
- DOI:
- 10.4238/2015.November.18.33
Detection of Y chromosome microdeletions and mitochondrial DNA mutations in male infertility patients
Authors: A.I. G�¼ney, D. Javadova, D. K�±rac, K. Ulucan, G. Koc, D. Ergec, H. Tavukcu and T. Tarcan
Infertility affects about 10-15% of all couples attempting pregnancy with infertility attributed to the male partner in approximately half of the cases. Proposed causes of male infertility include sperm motility disturbances, Y chromosome microdeletions, chromosomal abnormalities, single gene mutations, and sperm mitochondrial.. Read More»
- Genet. Mol. Res. 11(2):
- 2012.April.27.2
- DOI:
- 10.4238/2012.April.27.2
MEF2A gene mutations and susceptibility to coronary artery disease in the Chinese population
Authors: J. Li1, H.-X. Chen2, J.-G. Yang3, W. Li3, R. Du3 and L. Tian3
We investigated mutations and polymorphisms of the coronary artery disease (CAD)-related myocyte enhancer factor 2A (MEF2A) gene in a Chinese population. Polymerase chain reaction-single-strand conformation polymorphism and DNA sequencing were used to detect exon 11 of the MEF2A gene in 210 Hubei patients with CAD and 190 healthy controls... Read More»
- Genet. Mol. Res. 13(4):
- /2014.October.20.15
- DOI:
- /10.4238/2014.October.20.15
Mutational analysis of BRCA1/2 gene and pathologic characteristics from Kazakh population with sporadic breast cancer in northwestern China
Authors: S.Y. Yang, D. Aisimutula, H.F. Li, Y. Hu, X. Du, J. Li and M.X. Luan
Mutations in the BRCA1/2 genes are associated with an increased risk of breast cancer, but no large-scale research have examined the BRCA1/2 mutations in Chinese Kazakh women. We evaluated the frequency and distributions of BRCA1 and BRCA2 gene mutations in Kazakh sporadic breast cancer patients and healthy women in China. The association between the clin.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.October.26.11
- DOI:
- 10.4238/2015.October.26.11
A rare PAX6 mutation in a Chinese family with congenital aniridia
Authors: F. He, D.L. Liu, M.P. Chen, L. Liu, L. Lu, M. Ouyang, J. Yang, R. Gan and X.Y. Liu
Aniridia is an autosomal dominant disorder characterized by the complete or partial loss of the iris and is almost associated with mutations in the paired box gene 6 (PAX6). We examined three generations of a Chinese family with congenital aniridia and observed genetic defects. Exons of PAX6 from 12 family members were amplified by polymerase chain reacti.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.October.26.29
- DOI:
- 10.4238/2015.October.26.29