Mutation

Effect of ethyl methyl sulfonate concentration and different treatment conditions on germination and seedling growth of the cucumber cultivar Chinese long (9930)

S. N. M. Shah, Gong, Z. - H., Arisha, M. H., Khan, A., and Tian, S. - L., “Effect of ethyl methyl sulfonate concentration and different treatment conditions on germination and seedling growth of the cucumber cultivar Chinese long (9930)”, vol. 14, pp. 2440-2449, 2015.

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 concentration (0, 0.5, 1.0, 1.5% v/v) with different treatment temperatures (20 and 28°C).

Mutation analysis of PVRL1 in patients with non-syndromic cleft of the lip and/or palate in Guangdong

S. Y. Shu, Zhang, M. J., Cheng, H. Q., Tang, S. J., Chen, W. L., Wu, S. R., Lin, Y., and Chen, Q. S., “Mutation analysis of PVRL1 in patients with non-syndromic cleft of the lip and/or palate in Guangdong”, vol. 14, pp. 3400-3408, 2015.

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 relationship between NSCLP and mutations of PVRL1 in patients from Guangdong, China.

A novel FBN1 heterozygous mutation identified in a Chinese family with autosomal dominant Marfan syndrome

Y. Yin, Liu, X. - H., Li, X. - H., Fan, N., Lei, D. - F., Wang, Y., Cai, S. - P., Zhou, X. - M., Chen, X. - M., and Liu, X. - Y., “A novel FBN1 heterozygous mutation identified in a Chinese family with autosomal dominant Marfan syndrome”, vol. 14, pp. 4125-4132, 2015.

The purpose of this study was to identify the clinical features and mutations in the fibrillin-1 gene (FBN1) in a large Chinese family with autosomal dominant Marfan syndrome (MFS). Seventeen members from a Chinese family of 4 generations were included in the study. All members underwent complete ophthalmic examination. Molecular genetic analysis was performed on all subjects. All exons of FBN1 were amplified by polymerase chain reaction, sequenced, and the sequences were compared with a reference database.

Specific BRCA1 gene variations amongst young Moroccan breast cancer patients

A. Tazzite, Nadiffi, S., Kottwitz, D., M. Amrani, E., Jouhadi, H., Benider, A., Moumen, A., and Sefrioui, H., “Specific BRCA1 gene variations amongst young Moroccan breast cancer patients”, vol. 13, pp. 791-798, 2014.

Germline mutations in the BRCA1 gene are known predictive markers for the development of hereditary breast cancer. Nevertheless, no comprehensive study has been performed targeting the presence and relevance of BRCA1 mutations in Moroccan breast cancer patients. We here present an analysis of BRCA1 gene regions (exon 2 and exon 11a/b) of 50 female Moroccan breast cancer patients with early disease onset (≤40 years) or familial disease backgrounds.

Evaluation of glutathione peroxidase and superoxide dismutase enzyme polymorphisms in celiac disease patients

M. Katar, Ozugurlu, A. F., Ozyurt, H., and Benli, I., “Evaluation of glutathione peroxidase and superoxide dismutase enzyme polymorphisms in celiac disease patients”, vol. 13, pp. 1030-1037, 2014.

Celiac disease (CD) is a multifactorial, inflammatory small bowel disorder characterized by nutrient malabsorption resulting from mucosal damage, the latter induced by cereal products like barley, oat, and wheat. Oxidative stress has previously been reported to play an important role in the pathogenesis of CD.

Mutation screening of TSC1 and TSC2 genes in Chinese Han children with tuberous sclerosis complex

C. R. Mi, Wang, H., Jiang, H., Sun, R. P., and Wang, G. X., “Mutation screening of TSC1 and TSC2 genes in Chinese Han children with tuberous sclerosis complex”, vol. 13. pp. 2102-2106, 2014.

Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder caused by mutations in the TSC1 or TSC2 genes and is frequently associated with hamartoma formation in multiple organ systems. Here, we report two novel mutations in the TSC2 gene, including a splicing mutation (IVS 29 +1G>C) in intron 29 and a deletion/insertion mutation (C.5090-5092delCCA- inAG) in exon 39 in two Chinese Han children with TSC whose first clinical manifestation was seizure.

Polymorphisms in the delta-like 2 homolog gene and their association with growth and meat-quality traits in Qinchuan cattle

N. Yang, Zan, L. S., Li, Y. K., Gao, J. B., Ma, X. H., Fu, C. Z., Wang, H., and Adoligbe, C., “Polymorphisms in the delta-like 2 homolog gene and their association with growth and meat-quality traits in Qinchuan cattle”, vol. 13, pp. 2130-2139, 2014.

The delta-like 2 homolog (DLK2) modulates adipogenesis, hematopoiesis, osteogenesis, and other cell-differentiation processes. In the present study, we detected potential polymorphisms in the DLK2 gene in 604 individuals of Qinchuan cattle by using PCR-RFLP and DNA-sequencing methods. Herein, we identified five novel single-nucleotide polymorphisms (SNPs) (g.888G>A, g.910A>G, g.995G>A, g.4321A>G, g.4850A>G) and analyzed their association with measured traits.

Analysis of the BRAF V600E mutation in primary cutaneous melanoma

J. S. S. Inumaru, Gordo, K. I. F., Junior, A. C. Fraga, Silva, A. M. T. C., Leal, C. B. Q. S., Ayres, F. M., Wastowski, I. J., Borges, N. F., and Saddi, V. A., “Analysis of the BRAF V600E mutation in primary cutaneous melanoma”, vol. 13, pp. 2840-2848, 2014.

BRAF V600E is the most common mutation in cutaneous melanomas, and has been described in 30-72% of such cases. This mutation results in the substitution of valine for glutamic acid at position 600 of the BRAF protein, which consequently becomes constitutively activated. The present study investigated the BRAF V600E mutation frequency and its clinical implications in a group of 77 primary cutaneous melanoma patients treated in a cancer reference center in Brazil.

Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia

P. C. Lee, Lam, H. H., Ghani, S. A., Subrayan, V., and Chua, K. H., “Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia”, vol. 13, pp. 3553-3559, 2014.

Mutations in the PAX6 gene that cause aniridia have been identified in various ethnicities but not in the Malaysian population. Therefore, the objective of this study was to investigate the PAX6 mutation in a Malaysian family with congenital aniridia. In this study, a complete ophthalmic examination was performed on a Dusun ethnic family with aniridia.

A novel NF1 frame-shift mutation (c.702_703delGT) in a Chinese family with neurofibromatosis type 1

S. P. Cai, Fan, N., Chen, J., Xia, Z. L., Wang, Y., Zhou, X. M., Yin, Y., Wen, T. L., Xia, Q. J., Liu, X. Y., and Wang, H. Y., “A novel NF1 frame-shift mutation (c.702_703delGT) in a Chinese family with neurofibromatosis type 1”, vol. 13, pp. 5395-5404, 2014.

This study aimed to characterize the clinical features of a Chinese pedigree with neurofibromatosis type 1 (NF1) and to identify mutations in the NF1 gene. In this three-generation family containing 8 members, 5 had been diagnosed with NF1 and the others were asymptomatic. All members of the family underwent complete medical examinations. Molecular genetic analyses were performed on all subjects included in the study. All exons of NF1 were amplified by polymerase chain reaction, sequenced, and compared with a reference database.

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