Human Genetics
A novel single-base deletion mutation of the RUNX2 gene in a Chinese family with cleidocranial dysplasia
Authors: C.Y. Fang, J.J Xue, L. Tan, C.H. Jiang, Q.P. Gao, D.S. Liang and L.Q. Wu
We identified a disease-causing mutation of the RUNX2 gene in a four-generation Chinese family affected with cleidocranial dysplasia (CCD). For mutation analysis, the coding region of RUNX2 was sequenced with DNA from two patients and three unaffected family members. The RUNX2 mutation was investigated in 50 normal controls by.. Read More»
- Genet. Mol. Res. 10(4):
- 2011.December.14.5
- DOI:
- 10.4238/2011.December.14.5
Influence of Arg72Pro polymorphisms of TP53 on the response of buccal cells to radiotherapy.
Authors: L. Pereira, M.R.S. Carvalho, C.G. Fonseca, S.S.S. Lima, E.M.M. Cerqueira, W. Jorge and M.C.L. Castro
Polymorphisms in the TP53 gene codon 72 (Arg72Pro) influence apoptosis induction and DNA damage repair. We evaluated how variants of protein p53 (p53Arg and p53Pro) affect cell death and DNA damage repair by analyzing the frequencies of karyorrhexis and micronuclei. There were significant differences in the frequency of karyor.. Read More»
- Genet. Mol. Res. 10(4):
- 2011.December.14.6
- DOI:
- 10.4238/2011.December.14.6
+294T/C polymorphism in the PPAR-�´ gene is associated with risk of coronary artery disease in normolipidemic Tunisians
Authors: I. Jguirim-Souissi, A. Jelassi, Y. Hrira, M. Najah, A. Slimani, F. Addad, M. Hassine, K.B. Hamda, F. Maatouk, M. Rouis and M.N. Slimane
Peroxisome proliferator-activated receptor delta (PPAR-δ) is a transcription factor implicated in metabolism and inflammation. The +294T/C polymorphism in the PPAR-δ gene is associated with risk of coronary artery disease (CAD) in dyslipidemic women and hypercholesterolemic men. Whether this polymorphism influences.. Read More»
- Genet. Mol. Res. 9(3):
- vol9-3gmr831
- DOI:
- 10.4238/vol9-3gmr831
Association of the PPAR�³2 gene Pro12Ala variant with primary hypertension and metabolic lipid disorders in Han Chinese of Inner Mongolia
Authors: L. Gao*, L. Wang*, H. Yun, L. Su and X. Su
In order to determine whether Pro12Ala polymorphism of the peroxisome proliferator-activated receptor g2 (PPARg2) gene contributes to susceptibility to primary hypertension and metabolic lipid disorders, 482 unrelated subjects from Inner Mongolia were studied, including 137 healthy normotensive (controls) and 345 hypertensive .. Read More»
- Genet. Mol. Res. 9(3):
- vol9-3gmr833
- DOI:
- 10.4238/vol9-3gmr833
Linkage of schizophrenia with TPH2 and 5-HTR2A gene polymorphisms in the Malay population
Authors: S.F. Tee, T.J. Chow, P.Y. Tang and H.C. Loh
The serotoninergic system has been implicated in the etiology of schizophrenia and other behavioral disorders. Association studies have focused on the tryptophan hydroxylase 2 gene (TPH2) and the 5-hydroxytryptamine receptor 2A gene (5-HTR2A). We genotyped two single-nucleotide polymorphisms, A1438G of 5-HTR2A and intronic rs1.. Read More»
- Genet. Mol. Res. 9(3):
- vol9-3gmr789
- DOI:
- 10.4238/vol9-3gmr789
Genetic variability among natural populations of Zaprionus indianus (Drosophilidae) in the States of S�£o Paulo and Minas Gerais, Brazil
Authors: D. Braganholi, M. B�©lo, B.W. Bertoni, A.L. Fachin, R.O. Beleboni and S.M. Zingaretti
Random amplified polymorphic DNA (RAPD) was used to detect polymorphisms among Zaprionus indianus fly populations collected from six municipalities in the States of São Paulo and Minas Gerais, Brazil. This species is an important, recently introduced fruit fly pest of figs and other fruit. Among 21 primers, 16 produced .. Read More»
- Genet. Mol. Res. 9(3):
- vol9-3gmr879
- DOI:
- 10.4238/vol9-3gmr879
Frequency of ABO blood group system polymorphisms in Plasmodium falciparum malaria patients and blood donors from the Brazilian Amazon region
Authors: D.B. Carvalho, L.C. de Mattos, W.C. Souza-Neiras, C.R. Bonini-Domingos, A.B. C�³simo, L.M. Storti-Melo, G.C. Cassiano, A.A.A. Couto, A.J. Cordeiro, A.R.B. Rossit and R.L.D. Machado
We investigated the ABO genotypes and heterogeneity of the O alleles in Plasmodium falciparum-infected and non-infected individuals from the Brazilian Amazon region. Sample collection took place from May 2003 to August 2005, from P. falciparum malaria patients from four endemic regions of the Brazilian Amazon. The control grou.. Read More»
- Genet. Mol. Res. 9(3):
- vol9-3gmr803
- DOI:
- 10.4238/vol9-3gmr803
Prevalence and genotype distribution of human papillomavirus in women in the Henan Province
Authors: Y.-F. Zhi, X.-X. Cha, X.-F. Li, C. Qiu and S.-H. Rong
We studied human papillomavirus (HPV) prevalence and genotype distribution among women in the Henan Province to provide epidemiological data as a means of preventing cervical cancer and developing a vaccine. A total of 14,873 samples were genotyped by using polymerase chain reaction reverse dot-blot. The overall HPVpositive rate in the sample was 23.98% (.. Read More»
- Genet. Mol. Res. 14(2):
- 2015.May.22.15
- DOI:
- 10.4238/2015.May.22.15
Establishment and rapid detection of a heterozygous missense mutation in the CACNA1F gene by ARMS technique with double-base mismatched primers
Authors: W.C. Yang, L. Zhu, B.X. Zhou, S. Tania, Q. Zhou, M.A. Khan,X.L. Fu, J.L. Cheng, H.B. Lv and J.J. Fu
Retinitis pigmentosa (RP) is a retinal degenerative disorder that often causes complete blindness. Mutations of more than 50 genes have been identified as associated with RP, including the CACNA1F gene. In a recent study, by employing next-generation sequencing, we identified a novel mutation in the CACNA1F gene. In this study, we used the amplification r.. Read More»
- Genet. Mol. Res. 14(3):
- http://dx.doi.org/2015.September.25.14
- DOI:
- http://dx.doi.org/10.4238/2015.September.25.14
Investigation of the effects of single-nucleotide polymorphisms in DNA repair genes on the risk of glioma
Authors: K. Gao, S.Q. Mu and Z.X. Wu
Several single-nucleotide polymorphisms (SNPs) in DNA repair gene have been shown to affect DNA repair and to modify susceptibility to cancer. In this study, to investigate the role of these SNPs in glioma, we examined the potential association of 14 SNPs in DNA repair genes with the glioma risk in a Chinese population. We inc.. Read More»
- Genet. Mol. Res. 13(1):
- http://dx.doi.org/2014.February.27.5
- DOI:
- http://dx.doi.org/10.4238/2014.February.27.5