Human Genetics
Mutations in the FGFR2 gene in Mexican patients with Apert syndrome
Authors: A. Ibarra-Arce, G. Ortiz de ZÃ?¡rate-AlarcÃ?³n, L.G. Flores-PeÃ?±a,F. MartÃ?Ânez-HernÃ?¡ndez, M. Romero-Valdovinos and A. Olivo-DÃ?Âaz
Apert syndrome (AS) is a frequent acrocephalosyndactyly, with autosomal dominant inheritance. AS has been associated with mutations in fibroblast growth factor receptor 2 (FGFR2), and approximately 99% of cases show 2 of the frequent mutations located in exon IIIa (Ser252Trp or Pro253Arg). The purpose of the present study was to describe the mutations in .. Read More»
- Genet. Mol. Res. 14(1):
- 2015.March.27.19
- DOI:
- 10.4238/2015.March.27.19
Analysis of genetic diversity of Tunisian pistachio (Pistacia vera L.) using sequence-related amplified polymorphism (SRAP) markers
Authors: K. Guenni, M. Aouadi, K. Chatti and A. Salhi-Hannachi
Sequence-related amplified polymorphism (SRAP) markers preferentially amplify open reading frames and were used to study the genetic diversity of Tunisian pistachio. In the present study, 43 Pistacia vera accessions were screened using seven SRAP primer pairs. A total of 78 markers was revealed (95.12%) with an average polymor.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15048760
- DOI:
- 10.4238/gmr15048760
Association between -44G/A and +71A/G polymorphisms in the connexin 40 gene and atrial fibrillation in Uyghur and Han populations in Xinjiang, China
Authors: J. Hailati, Y.C. Yang, L. Zhang, P.Y. He, M. Baikeyi, W. Muhuyati and Z.Q. Liu
We aimed to elucidate the association between connexin 40 (Cx40) genetic polymorphisms and atrial fibrillation (AF) in a Chinese population in Xinjiang comprising Uyghur and Han individuals. We enrolled 275 Uyghur and 305 age- and gender-matched Han subjects, and used polymerase chain reaction to detect single nucleotide polym.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15048628
- DOI:
- 10.4238/gmr15048628
Preliminary study of the effects of �²-elemene on MCF-7/ADM breast cancer stem cells
Authors: Y. Dong, L. Li, L. Wang, T. Zhou, J.W. Liu and Y.J. Gao
We examined expression differences in breast cancer stem cells (BCSCs) of the doxorubicin-resistant breast cancer cell line MCF-7/ADM and doxorubicin-sensitive cell line MCF-7/S. The effects of Chinese medicine β-elemene on BCSCs and resistance protein expression were determined. The serum-free cell culture method was used for cell culture, and morph.. Read More»
- Genet. Mol. Res. 14(1):
- 2015.March.27.20
- DOI:
- 10.4238/2015.March.27.20
A multi-center study on the prophylactic application of antibiotics in aseptic operations
Authors: Y. Ma, L. Bao, H. Wang and S. Shi
To understand the application of antibacterial agents in aseptic operations and to provide evidence for their rational use and management, the antibiotic use statuses of six types of aseptic operations (306 cases from 4 tertiary hospitals) were retrospectively analyzed. Of 312 patients, 306 (65.08%) were treated with antibacterial agents in the perioperat.. Read More»
- Genet. Mol. Res. 14(1):
- 2015.March.27.21
- DOI:
- 10.4238/2015.March.27.21
Role of IL-8 rs4073 and rs2227306 polymorphisms in the development of primary gouty arthritis in a Chinese population
Authors: Y.X. Cui, H. Zhao and H.Q. Guo
In this study, we investigated the role of two single nucleotide polymorphisms in the promoter region of the interleukin-8 gene (IL-8; rs4073 and rs2227306) in the susceptibility to primary gouty arthritis in a Chinese population. Three hundred and twelve patients with primary gouty arthritis and 340 healthy controls were recr.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15048511
- DOI:
- 10.4238/gmr15048511
Association between interleukin-17A polymorphism and coronary artery disease susceptibility in the Chinese Han population
Authors: G.B. Su, X.L. Guo, X.C. Liu, Q.T. Cui and C.Y. Zhou
Coronary artery disease (CAD) is a major global health problem. In China, the incidence of CAD and the rate of mortality arising from it have increased every year. Interleukin-17A (IL-17A) is a proinflammatory cytokine produced by activated T cells, and it may be involved in the development of CAD. Genetic polymorphisms in functional regions of the IL17A .. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038235
- DOI:
- 10.4238/gmr.15038235
Molecular analysis of an idic(Y)(qter� p11.32::p11.32�qter) chromosome from a female patient with a complex karyotype
Authors: R. Fernandez and E. Pasaro
A female patient with a structurally abnormal idic(Y) (p11.32) chromosome was studied using fluorescence in situ hybridization and PCR to define the precise position of the breakpoint. The patient had a complex mosaic karyotype with eight cell lines and at least two morphologically distinct derivatives from the Y chromosome. T.. Read More»
- Genet. Mol. Res. 5(2):
miR-129b suppresses cell proliferation in the human lung cancer cell lines A549 and H1299
Authors: L. Zheng, Y.X. Qi, S. Liu, M.L. Shi and W.P. Yang
Lung cancer is one of the most prevalent malignant tumors, and is one of the primary causes of cancer-associated deaths. In 2002, an estimated 1.18 million lung cancer-associated deaths were recorded, accounting for 18% of cancer-related deaths and 2% of total mortality. Despite the great progress that has been made in lung ca.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15048367
- DOI:
- 10.4238/gmr15048367
A combination of five short tandem repeats of chromosome 15 significantly improves the identification of Prader-Willi syndrome etiology in the Argentinean population
Authors: H.V. Ar�¡oz, M. Torrado, C. Barreiro and L. Chertkoff
Prader-Willi syndrome (PWS) is a multisystemic disorder caused by the loss of expression of paternally transcribed genes in the PWS critical region of chromosome 15. Various molecular mechanisms are known to lead to PWS: deletion 15q11-q13 (75% of cases), maternal uniparental disomy (matUPD15) (23%) and imprinting defects (2%).. Read More»
- Genet. Mol. Res. 5(2):