Genetics

Relationship between genetic polymorphisms of DNA ligase 1 and non-small cell lung cancer susceptibility and radiosensitivity

H. Tian, He, X., Yin, L., Guo, W. J., Xia, Y. Y., and Jiang, Z. X., “Relationship between genetic polymorphisms of DNA ligase 1 and non-small cell lung cancer susceptibility and radiosensitivity”, vol. 14, pp. 7047-7052, 2015.

The aim of this study was to examine the relationship between genetic polymorphisms in DNA ligase 1 (LIG1) and non-small cell lung cancer (NSCLC) susceptibility and radiosensitivity in a Chinese population. This was a case-control study that included 352 NSCLC patients and 448 healthy controls. Polymerase chain reaction-restriction fragment length polymorphism analysis was conducted to detect HaeIII polymorphisms in exon 6 of the LIG1 gene in this popula­tion.

Familial primary open-angle glaucoma: a case report

K. Shi, Zhao, L., and Wang, C. Y., “Familial primary open-angle glaucoma: a case report”, vol. 13. pp. 3162-3164, 2014.

Primary open-angle glaucoma (POAG) is a disease that is often inherited, but the rules governing its inheritance are inconclusive. Herein, we report a case of POAG in a Chinese family. A 25-year-old female patient was referred to our department with progressive visual acuity decline in her left eye for the past 3 years. Ophthalmological examination supported our diagnosis of POAG in both eyes. We recorded the case history and clinical data of the proband and her family members and followed standard genetic study procedures.

Frequency of alterations in the MEFV gene and clinical signs in familial Mediterranean fever in Central Anatolia, Turkey

G. G. Ceylan, Ceylan, C., and Ozturk, E., “Frequency of alterations in the MEFV gene and clinical signs in familial Mediterranean fever in Central Anatolia, Turkey”, vol. 11, pp. 1185-1194, 2012.

Familial Mediterranean fever is a recessive autoinflammatory disease that is frequent in Armenians, Jews, Arabs, and Turks. The MEFV gene is responsible for this disease. We looked for MEFV gene variations (polymorphism and mutations) in a population that resides in Central Anatolia, Turkey. DNA was extracted from peripheral blood leukocytes of 802 familial Mediterranean fever patients.

Interaction between ALOX5AP-SG13S114A/T and COX-2-765G/C increases susceptibility to cerebral infarction in a Chinese population

X. Y. Yi, Zhou, Q., Lin, J., Chi, L. F., and Chi, W. Z., “Interaction between ALOX5AP-SG13S114A/T and COX-2-765G/C increases susceptibility to cerebral infarction in a Chinese population”, vol. 12, pp. 1660-1669, 2013.

We made a case-control study to investigate a possible association between ALOX5AP-SG13S114A/T, COX-2-765G/C, and COX-1-50C/T polymorphisms with cerebral infarction in a Chinese population. A total of 411 cases with cerebral infarction were included; 411 controls matched for age, gender, and risk factors were also selected.

Genetic variation in the parasympathetic signaling pathway in patients with reflex syncope

H. N. Holmegard, Benn, M., Mehlsen, J., and Haunsø, S., “Genetic variation in the parasympathetic signaling pathway in patients with reflex syncope”, vol. 12, pp. 2601-2610, 2013.

Reflex syncope is defined by a self-terminating transient loss of consciousness associated with an exaggerated response of the vagal reflexes upon orthostatic challenges. A hereditary component has previously been suggested. We hypothesized that variations in genes encoding proteins mediating the vagal signaling in the heart may be involved in reflex syncope pathogenesis.

Association between survivin gene promoter -31G/C and -644C/T polymorphisms and non-small cell lung cancer

E. Aynaci, Coskunpinar, E., Eren, A., Kum, O., Oltulu, Y. M., Akkaya, N., Turna, A., Yaylim, I., and Yildiz, P., “Association between survivin gene promoter -31G/C and -644C/T polymorphisms and non-small cell lung cancer”, vol. 12, pp. 3975-3982, 2013.

Lung cancer is the most common cancer worldwide. Survivin is one of the first reported inhibitors of apoptosis proteins, which is an important family of proteins that regulate apoptosis. The survivin gene is located on human chromosome 17q25, which is composed of 142 amino acids. A common polymorphism of the survivin gene promoter -31G/C has been shown to influence cancer risk. This genetic variant has been associated with overexpression of survivin at both protein and mRNA levels in cancer cells.

Wilms' tumor suppressor gene mutations in girls with sporadic isolated steroid-resistant nephrotic syndrome

Y. H. Yang, Zhao, F., Feng, D. N., Wang, J. J., Wang, C. F., Huang, J., Nie, X. J., Xia, G. Z., Chen, G. M., and Yu, Z. H., “Wilms' tumor suppressor gene mutations in girls with sporadic isolated steroid-resistant nephrotic syndrome”, vol. 12, pp. 6184-6191, 2013.

Mutations in the Wilms' tumor suppressor gene (WT1) can lead to syndromic forms of steroid-resistant nephrotic syndrome (SRNS) such as Denys-Drash or Frasier syndrome and can cause isolated SRNS. A mutation within WT1 is a frequent cause of sporadic isolated SRNS in girls. In a worldwide cohort of girls, the rate of occurrence was 10.8%. Previous reports have indicated that in Chinese girls, the detection rate of WT1 mutations is 16.7% for early onset isolated nephrotic syndrome.

Genetic, embryonic and anatomical study of an interspecific cassava hybrid

N. M. A. Nassar, Hashimoto, D. Y., and Ribeiro, D. G., “Genetic, embryonic and anatomical study of an interspecific cassava hybrid”, vol. 9, pp. 532-538, 2010.

A molecular, anatomical and cytogenetic study of an interspecific hybrid between Manihot esculenta (cassava) and the wild species M. oligantha was carried out. Cytogenetics revealed relatively complete chromosome pairing and high viability of the pollen grains. Ovule structure examined by the clearing method showed polyembryony in 2.7% of the ovules. Doubling of the chromosome number resulted in an increase in polyembryony of up to 18% and a reduction in pollen viability. Multivalent formation was also observed.

Novel NKX2-5 mutations responsible for congenital heart disease

J. Wang, Liu, X. Y., and Yang, Y. Q., “Novel NKX2-5 mutations responsible for congenital heart disease”, vol. 10, pp. 2905-2915, 2011.

Congenital heart disease (CHD) is the most common birth defect and is the leading cause of infant morbidity and mortality resulting from birth defects. Increasing evidence demonstrates that genetic variation in the NKX2-5 gene, which encodes a homeobox-containing transcription factor crucial to cardiogenesis, is an important molecular determinant for CHD. Nevertheless, the genetic components underlying CHD remain largely unknown. We screened NKX2-5 for potential molecular defects in patients with CHD.

Sulcus vocalis: evidence for autosomal dominant inheritance

R. H. G. Martins, Gonçalves, T. M., Neves, D. S., Fracalossi, T. A., Tavares, E. L. M., and Moretti-Ferreira, D., “Sulcus vocalis: evidence for autosomal dominant inheritance”, vol. 10, pp. 3163-3168, 2011.

We found evidence of autosomal dominant hereditary transmission of sulcus vocalis. Four dysphonic patients from three generations of the same family were submitted to videolaryngoscopic examination (three patients) and to direct laryngoscopy (one patient) to diagnose the hoarseness. Sulcus vocalis was diagnosed in all four patients.

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