Mutation
Polyploidy and epigenetic events in the evolution of Anura
Authors: M.L. Be�§ak
This article reviews the polyploidy events that have long been demonstrated to play a role in the evolution of Anura, while also discussing the importance of epigenetic control of gene expression and diversity. Findings on Brazilian autopolyploid anurans, mainly of the genus Odontophrynus, obtained in previous studies.. Read More»
- Genet. Mol. Res. 13(3):
- 2014.August.7.15
- DOI:
- 10.4238/2014.August.7.15
Cassava diversity in Brazil: the case of carotenoid-rich landraces
Authors: Nagib Nassar, Vizzotto CS, Schwartz CA and Pires Junior OR
In Brazil, the center of cassava origin, cassava landraces have acquired through their domestication a large diversity in relation to many economic traits such as high content of carotenoids and excellent palatability among other characters. One of these clones, which has been grown by indigenous Brazilian farmers and is now b.. Read More»
- Genet. Mol. Res. 6(1):
Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia: phenotypic appearance and speech problems
Authors: O.F. Khabour, F.S. Mesmar, F. Al-Tamimi, O.B. Al-Batayneh and A.I. Owais
Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia, the most common form of ectodermal dysplasia. Males show a severe form of this disease, while females often manifest mild to moderate symptoms. We identified a missense mutation (c.463C>T) in the EDA gene in a Jordanian family, using d.. Read More»
- Genet. Mol. Res. 9(2):
- vol9-2gmr810
- DOI:
- 10.4238/vol9-2gmr810
Mutation analysis of PVRL1 in patients with non-syndromic cleft of the lip and/or palate in Guangdong
Authors: S.Y. Shu, M.J. Zhang, H.Q. Cheng, S.J. Tang, W.L. Chen, S.R. Wu,Y. Lin and Q.S. Chen
Non-syndromic cleft of the lip and/or palate (NSCLP) is a very common birth defect; the poliovirus receptor-like 1 gene (PVRL1) has been identified as a genetic risk factor for NSCLP in patients from Norway, the Philippines, and South America. Given the considerable variation in allele frequencies across these geographical regions, this study explored the.. Read More»
- Genet. Mol. Res. 14(2):
- http://dx.doi.org/2015.April.15.3
- DOI:
- http://dx.doi.org/10.4238/2015.April.15.3
Mutations in the FGFR2 gene in Mexican patients with Apert syndrome
Authors: A. Ibarra-Arce, G. Ortiz de ZÃ?¡rate-AlarcÃ?³n, L.G. Flores-PeÃ?±a,F. MartÃ?Ânez-HernÃ?¡ndez, M. Romero-Valdovinos and A. Olivo-DÃ?Âaz
Apert syndrome (AS) is a frequent acrocephalosyndactyly, with autosomal dominant inheritance. AS has been associated with mutations in fibroblast growth factor receptor 2 (FGFR2), and approximately 99% of cases show 2 of the frequent mutations located in exon IIIa (Ser252Trp or Pro253Arg). The purpose of the present study was to describe the mutations in .. Read More»
- Genet. Mol. Res. 14(1):
- 2015.March.27.19
- DOI:
- 10.4238/2015.March.27.19
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):
Effect of ethyl methyl sulfonate concentration and different treatment conditions on germination and seedling growth of the cucumber cultivar Chinese long (9930)
Authors: S.N.M. Shah, Z.-H. Gong, M.H. Arisha, A. Khan and S.-L. Tian
We attempted to create a new germplasm of cucumber cultivar Chinese long (9930) using different doses of ethyl methyl sulfonate (EMS) to induce variability. We tested EMS concentration (0, 0.5, 1.0, 1.5, 2, 3% v/v) with post-treatment (0.1 M Na2S2O3 and water), EMS concentration (0, 0.5, 1.0, 1.5% v/v) over different treatment times (8, 16, 24 h), and EMS.. Read More»
- Genet. Mol. Res. 14(1):
- http://dx.doi.org/2015.March.30.2
- DOI:
- http://dx.doi.org/10.4238/2015.March.30.2
Investigation of mutations in the SRY, SOX9, and DAX1 genes in sex reversal patients from the Sichuan region of China
Authors: L. Chen, X.P. Ding, X. Wei and L.X. Li
We investigated the molecular genetic mechanism of sex reversal by exploring the relationship between mutations in the sex-determining genes SRY, SOX9, and DAX1 with genetic sex reversal disease. Mutations in the three key genes were detected by polymerase chain reaction (PCR) and sequencing after karyotype analysis. The mutat.. Read More»
- Genet. Mol. Res. 13(1):
- http://dx.doi.org/2014.March.12.4
- DOI:
- http://dx.doi.org/10.4238/2014.March.12.4
Novel visual system homeobox 1 gene mutations in Turkish patients with keratoconus
Authors: H. Bardak, M. Gunay, E. Yildiz, Y. Bardak, B. Gunay, H. Ozbas and O. Bagci
The aim of this study was to screen the visual system homeobox 1 (VSX1) gene in Turkish patients with keratoconus (KC). The patient group consisted of 44 patients who had undergone corneal transplant surgery before the age of 30, for advanced and rapidly progressive KC. The control group comprised 250 healthy individuals. We d.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15049024
- DOI:
- 10.4238/gmr15049024
Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease
Authors: M. Oldani S. Marchi A. Giani S. Cecchin E. Rigoni A. Persi D. Podavini A. Guerrini A. Nervegna G. Staurenghi M. Bertelli
Stargardt disease was diagnosed in 12 patients from 12 families using complete ophthalmologic examination, fundus photography, fundus autofluorescence, and spectral-domain optical coherence tomography. DNA was extracted for polymerase chain reaction (PCR) and direct DNA sequencing (ABCA4 gene). Genetic counseling and eye examination were offered to 16 add.. Read More»
- Genet. Mol. Res. 11(4):
- 2012.October.9.3
- DOI:
- 10.4238/2012.October.9.3