Medical Genetics
A study on the relationship between TCTA tetranucleotide polymorphism of the HPRT gene and primary hyperuricemia
Authors: Y.S. Zhu, S.G. Wei, R.F. Sun, J.L. Feng, W.J. Kuang, J.H. Lai and S.B. Li
We examined polymorphism of the TCTA tetranucleotide sequence in the 3rd intron of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene in the Han population of Ningxia Province in China. We also looked for a possible relationship between STR polymorphism in the 3rd intron of the HPRT gene and primary hyperuricemia. .. Read More»
- Genet. Mol. Res. 10(4):
- 2011.December.15.3
- DOI:
- 10.4238/2011.December.15.3
Multiple nevoid basal cell carcinoma syndrome associated with congenital orbital teratoma, caused by a PTCH1 frameshift mutation
Authors: A.L. Rodrigues, A. Carvalho, R. Cabral, V. Carneiro, P. Gilardi, C.P. Duarte, J. Puente-Prieto, P. Santos and L. Mota-Vieira
Gorlin-Goltz syndrome, or nevoid basal cell carcinoma syndrome (NBCCS), is a rare autosomal dominant disorder caused by mutations in the PTCH1 gene and shows a high level of penetrance and variable expressivity. The syndrome is characterized by developmental abnormalities or neoplasms and is diagnosed with 2 major cri.. Read More»
- Genet. Mol. Res. 13(3):
- 2014.July.25.21
- DOI:
- 10.4238/2014.July.25.21
Bias toward a 1:1 ratio in primer-introduced restriction analysis PCR: mechanism and minimization
Authors: S. Denden, H. Abaidi, M.H. Hamdaoui, J. Ben Chibani and A. Haj Khelil
Primer-introduced restriction analysis is widely used in molecular genetics. However, several studies have reported inconsistent data regarding sequencing, mainly among heterozygous samples. This discrepancy may be related to the bias towards a 1:1 ratio typically observed in heterozygous digestion products. In this study, we investigated the mechanism an.. Read More»
- Genet. Mol. Res. 13(3):
- 2014.July.25.24
- DOI:
- 10.4238/2014.July.25.24
Pulmonary hypertension in patients with stage 1-3 chronic kidney disease
Authors: Q.M. Yang and X.R. Bao
Pulmonary hypertension (PH) secondary to chronic kidney disease (CKD) is common, but in stages 1-3 CKD patients, it remains unclear. We sought to evaluate the prevalence of PH and elucidate the possible pathogenesis in Chinese patients with early stage kidney disease. Doppler-estimated pulmonary systolic artery pressure (PASP).. Read More»
- Genet. Mol. Res. 13(3):
- 2014.July.25.25
- DOI:
- 10.4238/2014.July.25.25
Pharmacogenomics: accessing important alleles by imputation from commercial genome-wide SNP arrays
Authors: R. Liboredo and S.D.J. Pena
Personalized medicine is becoming a medical reality, as important genotype-phenotype relationships are being unraveled. The availability of pharmacogenomic data is a key element of individualized care. In this study, we explored genotype imputation as a means to infer important pharmacogenomic alleles from a regular commercial.. Read More»
- Genet. Mol. Res. 13(3):
- 2014.July.25.27
- DOI:
- 10.4238/2014.July.25.27
XPD and hOGG1 gene polymorphisms in reperfusion oxidative stress
Authors: O. �°sbir, U. G�¶rm�¼��, H.A. Ergen, B. ��akmako��lu, ��.T. Kahraman and N. Baykan
Knee replacement surgery is an ischemia/reperfusion model, as it uses tourniquet applied to the knee area to stop the blood flow during the operation. Fifty patients that were undergoing elective arthroscopic knee surgery were included in our study. Human 8-oxoguanine glycosylase 1 (hOGG1) is an enzyme to repair specific DNA l.. Read More»
- Genet. Mol. Res. 10(4):
- 2011.December.19.4
- DOI:
- 10.4238/2011.December.19.4
HIF1A gene Pro582Ser polymorphism and susceptibility to digestive tract cancers: a meta-analysis of case-control studies
Authors: J. Xu, L. Xu, L.T. Li, Q. You, L.S. Cha
Many existing studies have demonstrated that common polymorphisms in the hypoxia inducible factor-1α (HIF-1A) may contribute to the development of digestive tract cancers, but individually published studies showed inconclusive results. This meta-analysis aimed to derive a precise estimation of the relationships between H.. Read More»
- Genet. Mol. Res. 13(3):
- 2014.July.25.29
- DOI:
- 10.4238/2014.July.25.29
Fibroin protein/chitosan scaffolds and bone marrow mesenchymal stem cells culture in vitro
Authors: J. Deng, R.F. She, W.L. Huang, C. Yuan and G. Mo
A previous experiment demonstrated that fibroin protein and chitosan mixed in proper proportion presented good physical and chemical properties and biological characteristics, which can make up for their respective disadvantages. To observe the growth of bone marrow mesenchymal stem cells (BMSCs) on these fibroin protein/chito.. Read More»
- Genet. Mol. Res. 13(3):
- 2014.July.29.1
- DOI:
- 10.4238/2014.July.29.1
Association study of plasma NT-proBNP levels and severity of acute coronary syndrome
Authors: T. Tuxunguli, A. Aierken, X. Xie, C.F. Dai, Y.N. Yang, X.M. Li and Y.T. Ma
The aim of this study was to investigate the N-terminal brain natriuretic peptide precursor (NT-proBNP) levels in the peripheral blood of patients with acute coronary syndrome (ACS) and to provide the basis for its application in the early diagnosis of ACS. A total of 440 patients admitted to the hospital for examination and t.. Read More»
- Genet. Mol. Res. 13(3):
- 2014.July.29.2
- DOI:
- 10.4238/2014.July.29.2
Microvascular remodeling of nasal mucosa in allergic rhinitis induced by an allergen in Sprague-Dawley rats
Authors: J.G. Liu, M.Q. Wang, X.H. Zhu, Y.H. Liu and J.Y. Cai
This study aimed to observe microvascular changes in the nasal mucosa of Sprague-Dawley (SD) rats with allergic rhinitis (AR) after persistent exposure to an allergen with fluticasone propionate (FP) treatment. Ninety healthy SD rats were randomly distributed into the control group (A, N = 30), the group with continued exposure to an allergen (B, N = 30),.. Read More»
- Genet. Mol. Res. 14(3):
- http://dx.doi.org/2015.September.28.14
- DOI:
- http://dx.doi.org/10.4238/2015.September.28.14