Polymorphisms

A66G and C524T polymorphisms of the methionine synthase reductase gene are associated with congenital heart defects in the Chinese Han population

W. Zeng, Liu, L., Tong, Y., Liu, H. M., Dai, L., and Mao, M., A66G and C524T polymorphisms of the methionine synthase reductase gene are associated with congenital heart defects in the Chinese Han population, vol. 10, pp. 2597-2605, 2011.

Congenital heart defects (CHDs) are the most common birth defects; genes involved in homocysteine/folate metabolism may play important roles in CHDs. Methionine synthase reductase (MTRR) is one of the key regulatory enzymes involved in the metabolic pathway of homocysteine. We investigated whether two polymorphisms (A66G and C524T) of the MTRR gene are associated with CHDs. A total of 599 children with CHDs and 672 healthy children were included; the polymorphisms were detected by PCR and RFLP analysis.

A novel single-nucleotide polymorphism in the 5' upstream region of the prolactin receptor gene is associated with fiber traits in Liaoning cashmere goats

J. P. Zhou, Zhu, X. P., Zhang, W., Qin, F., Zhang, S. W., and Jia, Z. H., A novel single-nucleotide polymorphism in the 5' upstream region of the prolactin receptor gene is associated with fiber traits in Liaoning cashmere goats, vol. 10. pp. 2511-2516, 2011.

The most important traits of Chinese Liaoning cashmere goat fiber are fiber diameter, weight, and length. We looked for polymorphisms and their possible association with cashmere fiber traits in the 5' upstream region (5' UTR) of the prolactin receptor gene (PRLR), which encodes an anterior pituitary peptide hormone involved in different physiological activities; it is the principal endocrine regulator in pelage replacement in mammals. A novel single-nucleotide polymorphism (SNP) was found in the 5' UTR of PRLR by PCR-RFLP in an analysis of 590 goats.

A novel polymorphism of the myogenin gene is associated with body measurement traits in native Chinese breeds

M. Xue, Zan, L. S., Gao, L., and Wang, H. B., A novel polymorphism of the myogenin gene is associated with body measurement traits in native Chinese breeds, vol. 10, pp. 2721-2728, 2011.

Using PCR-SSCP and DNA sequencing technology, we examined the association of single nucleotide polymorphisms (SNPs) in the bovine MyoG gene with body measurement traits in 779 individuals of six native Chinese cattle breeds, namely Luxi, Luxi × Simmental crossbred, Nanyang, Xia’nan, Jiaxian red, and Qinchuan. A novel SNP, T314C, was detected. Allelic frequencies of MyoG-T/C in the six breeds were 0.8308/0.1692, 0.8774/0.1226, 0.8021/0.1979, 0.8209/0.1791, 0.8630/0.1370, 0.8044/0.1956, respectively.

G501C polymorphism of the oxidized LDL receptor gene is associated with albuminuria in Chinese essential hypertension patients

X. W. Hou, Hu, Z. H., Cui, Y., Gao, W., Sun, S. P., and Wang, N. F., G501C polymorphism of the oxidized LDL receptor gene is associated with albuminuria in Chinese essential hypertension patients, vol. 10, pp. 2710-2717, 2011.

Albuminuria is an independent predictor of renal and cardiovascular complications in hypertensive subjects. We previously showed that lectin-like oxidized low-density lipoprotein receptor 1 (OLR-1) polymorphisms at G501C are associated with susceptibility to essential hypertension and serum C-reactive protein levels. We have now investigated a possible association between OLR-1 polymorphisms at G501C, genotyped by PCR-RFLP, and severity of albuminuria in 307 hypertensive Chinese subjects and 225 age- and gender-matched controls.

XPD and hOGG1 gene polymorphisms in reperfusion oxidative stress

O. İsbir, Gormus, U., Ergen, H. A., Cakmakoglu, B., Kahraman, Ö. T., and Baykan, N., XPD and hOGG1 gene polymorphisms in reperfusion oxidative stress, vol. 10, pp. 3157-3162, 2011.

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 lesions and a good marker of hydroxyl radical damage to DNA. XPD is another DNA repair gene. We investigated the effect of hOGG1 (Ser326Cys) and XPD (Lys751Gln) polymorphisms on the oxidative stress level after reperfusion.

A/G Gln20Arg (exon 1) and G/A Val156Met (exon 5) polymorphisms of the human orosomucoid 1 gene in Mexico

L. García-Ortiz, Vargas-Alarcón, G., Fragoso, J. M., Granados, J., L. Noriega, M., A. Pérez, N., E. Reyes, H., Zenteno-Ruiz, J. C., and Martínez-Cordero, E., A/G Gln20Arg (exon 1) and G/A Val156Met (exon 5) polymorphisms of the human orosomucoid 1 gene in Mexico, vol. 7, pp. 7-15, 2008.

The human orosomucoid 1 gene (ORM1) codes an alpha-1-acid glycoprotein that has been classified as an acute-phase reactive protein, and a major drug-binding serum component, as well as an immunomodulatory protein with genetic polymorphisms. Evaluation of ORM variation through isoelectric focusing and immunobloting has revealed a world-wide distribution of the ORM1 F and ORM1 S alleles.

The investigation of DNA repair polymorphisms with histopathological characteristics and hormone receptors in a group of Brazilian women with breast cancer

R. M. Dufloth, Arruda, A., Heinrich, J. K. R., Schmitt, F., and Zeferino, L. C., The investigation of DNA repair polymorphisms with histopathological characteristics and hormone receptors in a group of Brazilian women with breast cancer, vol. 7, pp. 574-582, 2008.

The association of tumor differentiation and estrogen receptor expression with the prognosis of breast cancer has been well established. Nevertheless, little is yet reported about the association of morphological characteristics of the tumor, estrogen receptor status and polymorphisms in low penetrance genes. The aim of the present study was to investigate a possible association between DNA repair gene polymorphisms (XRCC1, XPD, XRCC3, and RAD51) with histological type, grade and hormone receptor expression in a series of breast cancers.

XRCC1 polymorphisms and haplotypes in Mexican patients with acute lymphoblastic leukemia

J. P. Meza-Espinoza, Peralta-Leal, V., Gutierrez-Angulo, M., Macias-Gomez, N., Ayala-Madrigal, M. L., Barros-Nuñez, P., Duran-Gonzalez, J., and Leal-Ugarte, E., XRCC1 polymorphisms and haplotypes in Mexican patients with acute lymphoblastic leukemia, vol. 8, pp. 1451-1458, 2009.

We examined the influence of the Arg194Trp, Arg280His, and Arg399Gln polymorphisms of XRCC1 (X-ray repair cross-complementing group 1) on the development of childhood acute lymphoblastic leukemia (ALL) in 120 ALL patients and 120 controls in Mexico. All of them were genotyped for these polymorphisms, using polymerase chain reaction. No significant differences in allele and genotype frequencies for any polymorphism were observed between patients and controls.

Optimization of a multiplex minisequencing protocol for population studies and medical genetics

C. M. B. Carvalho and Pena, S. D. J., Optimization of a multiplex minisequencing protocol for population studies and medical genetics, vol. 4, pp. 115-125, 2005.

Several technologically sophisticated high-throughput techniques have been recently developed for the study of human single nucleotide polymorphisms and the diagnosis of point mutations in human diseases. However, there is also a need for simple and inexpensive techniques suitable for clinical services and small research laboratories. Minisequencing meets the latter requirements. It is simple, non-radioactive and can be easily multiplexed by adding oligonucleotide tails of increasing size to the sequencing oligonucleotide primers.

DNA repair gene polymorphisms and susceptibility to familial breast cancer in a group of patients from Campinas, Brazil

R. Mucha Dufloth, Costa, S., Schmitt, F., and Zeferino, L. Carlos, DNA repair gene polymorphisms and susceptibility to familial breast cancer in a group of patients from Campinas, Brazil, vol. 4, pp. 771-782, 2005.

Several studies have reported that the genes involved in DNA repair and in the maintenance of genome integrity play a crucial role in protecting against mutations that lead to cancer. Epidemiologic evidence has shown that the inheritance of genetic variants at one or more loci results in a reduced DNA repair capacity and in an increased risk of cancer.

Pages

Subscribe to Polymorphisms