Polymorphism

Risk of colorectal cancer associated with the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in the Kashmiri population

A. S. Sameer, Shah, Z. A., Nissar, S., Mudassar, S., and Siddiqi, M. A., Risk of colorectal cancer associated with the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in the Kashmiri population, vol. 10, pp. 1200-1210, 2011.

Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme in folate metabolism and is involved in DNA synthesis, DNA repair and DNA methylation. The two common functional polymorphisms of MTHFR, 677 C→T and 1298 A→C, have been shown to impact various diseases, including cancer. The 677 C→T polymorphism has been widely investigated in different cancers and has been implicated as a risk factor for the development of various cancers.

Isolation and characterization of tetranucleotide repeat polymorphic microsatellite loci in Larus saundersi (Aves, Laridae)

H. - X. Jiang, Ren, S. L., Hou, Y. - Q., Yang, M., and Wu, X. - B., Isolation and characterization of tetranucleotide repeat polymorphic microsatellite loci in Larus saundersi (Aves, Laridae), vol. 10. pp. 2034-2037, 2011.

Nine polymorphic microsatellite loci were isolated, using tetranucleotide repeat oligonucleotide probes from an enriched DNA library of the globally “vulnerable” Saunders’s gull (Larus saundersi), collected from the Yancheng coastal wetland, one of the three remaining breeding sites in China. Six breast muscle tissues and 16 blood samples from 22 gulls and eight eggshell membrane tissues were collected for this analysis. The number of alleles per locus ranged from 4 to 15, with a mean of 8.9.

Short aggrecan gene repetitive alleles associated with lumbar degenerative disc disease in Turkish patients

O. Eser, Eser, B., Cosar, M., Erdogan, M. O., Aslan, A., Yıldız, H., Solak, M., and Haktanır, A., Short aggrecan gene repetitive alleles associated with lumbar degenerative disc disease in Turkish patients, vol. 10, pp. 1923-1930, 2011.

We investigated a possible association between aggrecan gene polymorphism and lumbar degenerative disc disease in Turkish patients. One hundred 20-30-year-old patients with or without low back pain were selected for the study. Lumbar magnetic resonance imaging was performed on all patients. The patient group had low back pain clinically and degenerative disc disease radiographically. The control group included patients with and without low back pain: all were negative radiographically for degenerative disc disease. Genomic DNA was extracted from all participants.

Isolation and characterization of 19 polymorphic microsatellite loci from the topmouth gudgeon, Pseudorasbora parva

C. Zeng, Gul, Y., Yang, K., Cui, L., Wang, W. - M., and Gao, Z. - X., Isolation and characterization of 19 polymorphic microsatellite loci from the topmouth gudgeon, Pseudorasbora parva, vol. 10. pp. 1696-1700, 2011.

The Asiatic topmouth gudgeon, Pseudorasbora parva, is recognized as one of the most invasive fish species in many countries outside of Asia. We isolated and characterized 19 microsatellite loci from P. parva. The polymorphism of these 19 loci was tested on 40 individuals of P. parva sampled from a wild population located in Ezhou, Hubei province of China. The loci had 5 to 11 alleles, with a mean of 7.7 at each locus; 11 loci conformed to Hardy-Weinberg equilibrium.

A new single-nucleotide mutation (rs362719) of the reelin (RELN) gene associated with schizophrenia in female Chinese Han

W. J. Kuang, Sun, R. F., Zhu, Y. S., and Li, S. B., A new single-nucleotide mutation (rs362719) of the reelin (RELN) gene associated with schizophrenia in female Chinese Han, vol. 10, pp. 1650-1658, 2011.

Reelin is an extracellular signaling protein that plays an important role in the development of the central nervous system. Post-mortem studies have shown lower reelin protein levels in the brains of patients with schizophrenia and bipolar disorder compared with controls. Genetic studies have also shown that mutations in the reelin gene (RELN) increase the risk for schizophrenia and bipolar disorder.

Meta-analysis of the relationship between p21 Ser31Arg polymorphism and lung cancer susceptibility

G. Lin, Fang, F., Yu, X. - J., and Yu, L., Meta-analysis of the relationship between p21 Ser31Arg polymorphism and lung cancer susceptibility, vol. 10, pp. 2449-2456, 2011.

The cyclin-dependent kinase inhibitor 1A (also known as p21) is thought to be involved in tumor development by mediating cell cycle arrest through the inhibition of cyclin/CDK activity. To explore the relationship of Ser31Arg polymorphism in the p21 gene with the risk of developing lung cancer, we performed an overall and stratified meta-analysis based on ethnicity, lung cancer subtypes and source of controls, with six eligible studies (2366 cases and 3320 controls).

Polymorphisms associated with egg number at 300 days of age in chickens

H. P. Xu, Zeng, H., Zhang, D. X., Jia, X. L., Luo, C. L., Fang, M. X., Nie, Q. H., and Zhang, X. Q., Polymorphisms associated with egg number at 300 days of age in chickens, vol. 10, pp. 2279-2289, 2011.

We looked for variations that could be associated with chicken egg number at 300 days of age (EN300) in seven genes of the hypothalamic-pituitary-gonadal axis, including gonadotrophin-releasing hormone-I (GnRH-I), GnRH receptor (GnRHR), neuropeptide Y (NPY), dopamine D2 receptor (DRD2), vasoactive intestinal polypeptide (VIP), VIP receptor-1 (VIPR-1), prolactin (PRL), and the QTL region between 87 and 105 cM of the Z chromosome.

Lack of association between RANTES-28, SDF-1 gene polymorphisms and systemic lupus erythematosus in the Malaysian population

L. - H. Lian, Kee, B. - P., Ng, H. - L., and Chua, K. - H., Lack of association between RANTES-28, SDF-1 gene polymorphisms and systemic lupus erythematosus in the Malaysian population, vol. 10, pp. 2841-2850, 2011.

Regulated on activation, normal T-cell expressed and secreted (RANTES) and stromal cell-derived factor 1 (SDF-1) are members of the CC- and CXC-chemokine families, respectively. Both genes have been postulated to be involved in the pathogenesis of systemic lupus erythematosus (SLE). We analyzed position 28 of the RANTES gene promoter region, as well as the SNP observed in the 3' UTR of the SDF-1 gene at position 801, in 130 patients presenting SLE at the Malaya University Medical Centre. Screening of 130 healthy volunteer controls using RFLP was also performed.

AGPAT6 polymorphism and its association with milk traits of dairy goats

C. He, Wang, C., Chang, Z. H., Guo, B. L., Li, R., Yue, X. P., Lan, X. Y., Chen, H., and Lei, C. Z., AGPAT6 polymorphism and its association with milk traits of dairy goats, vol. 10, pp. 2747-2756, 2011.

As one of the eight members in the 1-acylglycerol-3-phosphate-O-acyltransferase (AGPATs) family, AGPAT6 is a crucial enzyme for the biosynthesis of glycerolipids and triacylglycerol in eukaryotes, as well as catalyzing the conversion from lysophosphatidic acid to phosphatidic acid. AGPAT6 can be considered as a candidate gene for regulating milk composition. DNA sequencing and PCR-RFLP methods were applied to detect genetic variation in the AGPAT6 gene in 549 Chinese dairy goats.

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