Mutation
Frequency of FMR1 premutation in individuals with ataxia and/or tremor and/or parkinsonism
Authors: A.H.O. Reis, A.C.S. Ferreira, K.B. Gomes, M.J.B. Aguiar, C.G. Fonseca, F.E. Cardoso, V.C. Pardini and M.R.S. Carvalho
A late onset neurological syndrome in carriers of premutation in FMR1 gene was recently described. The condition was named fragile-X-associated tremor/ataxia syndrome (FXTAS) and includes intentional tremor, cerebellar ataxia, parkinsonism, and cognitive deficit. We ascertained the contribution of FMR1 premutation to the phenotypes ataxia, tremor and/or p.. Read More»
- Genet. Mol. Res. 7(1):
- vol7-1gmr357
- DOI:
- 10.4238/vol7-1gmr357
Cytotoxic, mutagenic and antimutagenic screening of Arenosclera brasiliensis acetone and ethanol extracts
Authors: L. Stankevicins, C.A.F. Aiub, J.L. Mazzei, G. Lobo-Hajduand I. Felzenszwalb
The marine environment is a rich source of biologically active compounds with pharmacological properties. Marine organisms often produce secondary metabolites with structural features different from those produced by terrestrial ones, and the Phylum Porifera seems to be one of the most productive in this sense. This study was .. Read More»
- Genet. Mol. Res. 7(2):
- vol7-2gmr460
- DOI:
- 10.4238/vol7-2gmr460
Mutation screening of TSC1 and TSC2 genes in Chinese Han children with tuberous sclerosis complex
Authors: C.R. Mi, H. Wang, H. Jiang, R.P. Sun and G.X. Wang
Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder caused by mutations in the TSC1 or TSC2 genes and is frequently associated with hamartoma formation in multiple organ systems. Here, we report two novel mutations in the TSC2 gene, including a splicing mutation (IVS 29 +1G>C) in intron 29 and a .. Read More»
- Genet. Mol. Res. 13(1):
- 2014.March.24.14
- DOI:
- 10.4238/2014.March.24.14
Polymorphisms in the delta-like 2 homolog gene and their association with growth and meat-quality traits in Qinchuan cattle
Authors: N. Yang, L.S. Zan, Y.K. Li, J.B. Gao, X.H. Ma, C.Z. Fu, H. Wang and C. Adoligbe
The delta-like 2 homolog (DLK2) modulates adipogenesis, hematopoiesis, osteogenesis, and other cell-differentiation processes. In the present study, we detected potential polymorphisms in the DLK2 gene in 604 individuals of Qinchuan cattle by using PCR-RFLP and DNA-sequencing methods. Herein, we identified five novel single-nu.. Read More»
- Genet. Mol. Res. 13(1):
- 2014.March.24.20
- DOI:
- 10.4238/2014.March.24.20
Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia
Authors: L.H. Cao, L.B. Wang, S.S. Wang, H.W. Ma, C.Y. Ji and Y. Luo
Pseudoachondroplasia is an autosomal dominant osteochondrodysplasia characterized by disproportionate short stature, joint laxity, and early onset osteoarthrosis. Pseudoachondroplasia is caused by mutations in the gene encoding cartilage oligomeric matrix protein (COMP). We looked for mutations in the COMP gene in three sporad.. Read More»
- Genet. Mol. Res. 10(2):
- vol10-2gmr1111
- DOI:
- 10.4238/vol10-2gmr1111
Non-parental banding patterns in recombinant inbred line population of maize with SSR markers
Authors: R.V. Ramekar, K.J. Sa, S.Y. Woo and J.K. Lee
We observed 3 types of non-parental banding patterns using simple-sequence repeat primers in a recombinant inbred line maize population developed from 2 inbred lines, Mo17 and KW7. We observed alleles that were not present in either of the parents, known as non-parental alleles. Although non-parental alleles are a consequence of genetic variation, they ar.. Read More»
- Genet. Mol. Res. 14(3):
- 2015.July.28.9
- DOI:
- 10.4238/2015.July.28.9
Sequence variants in the bovine PRDM16 gene associated with body weight in Chinese cattle breeds
Authors: J. Wang, C. Wang, R. Tian, Y.-Z. Huang, X.-S. Lai, X.-Y. Lan, J.-Q. Wang and H. Chen
As a zinc-finger protein, PR domain containing 16 (PRDM16) controls brown fat determination by stimulating brown fat cell production while suppressing the expression of genes for production of white fat cells; mutations in this domain are associated with myelodysplastic syndrome and leukemogenesis. In our study, polymorphisms .. Read More»
- Genet. Mol. Res. 11(1):
- 2012.March.22.5
- DOI:
- 10.4238/2012.March.22.5
Clinical and genetic characterization of complete androgen insensitivity syndrome in a Chinese family
Authors: B.K. Li, Q. Ding, X.D. Wan and X. Wang
We studied a family with two cousins who were diagnosed with complete androgen insensitivity syndrome, an X-linked disorder caused by mutations in the androgen receptor gene. A pedigree analysis and a molecular study using PCR and DNA sequencing clarified each female family member’s androgen receptor status and revealed .. Read More»
- Genet. Mol. Res. 10(2):
- vol10-2gmr1130
- DOI:
- 10.4238/vol10-2gmr1130
Mutation analyses and prenatal diagnosis in families of X-linked severe combined immunodeficiency caused by IL2Rg gene novel mutation
Authors: Q.L. Bai, N. Liu, X.D. Kong, X.J. Xu and Z.H. Zhao
We investigated the feasibility of interleukin-2 receptor gamma (IL2Rg) gene based on gene mutation analysis and prenatal diagnosis of X-linked severe combined immunodeficiency (XSCID). Blood samples of patients and their parents of X-SCID (family 1) and X-SCID (family 2) were collected. IL2Rg gene sequences of the 2 families were analyzed using bi-direct.. Read More»
- Genet. Mol. Res. 14(2):
- 2015.June.9.2
- DOI:
- 10.4238/2015.June.9.2
Genetic characteristics of non-Hodgkin lymphoma in ethnic Uighur people, and their clinical significance
Authors: L. Xu, X.G. Zou, X. Wang, A.B.L.M.T. Hairesa and J.J. Liu
The incidence of non-Hodgkin lymphoma (NHL) in China is increasing and is attracting attention as a topic of research. The percentage of NHL cases in ethnic Uighur people is also gradually increasing. We therefore recruited Uighur people with NHL to investigate the correlation between genetic alternations and clinical/patholog.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15048960
- DOI:
- 10.4238/gmr15048960