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Medical Genetics

Medical Genetics   Research Article

Elevated serum homocysteine level in the development of diabetic peripheral neuropathy

Authors: L.Q. Zheng, H.L. Zhang, Z.H. Guan, M.Y. Hu, T. Zhang and S.J. Ge

The development of diabetic peripheral neuropathy (DPN) is always followed by changes in vascular endothelial cells that are related to the reactivity of the homocysteine (Hcy) sulfhydryl group. In this meta-analysis, we investigated the association of Hcy with the pathogenesis and progression of DPN. We screened the Embase, O.. Read More»

Genet. Mol. Res. 14(4):
2015.November.30.14
DOI:
10.4238/2015.November.30.14
Medical Genetics   Research Article

Molecular cloning and expression analysis of jasmonic acid dependent but salicylic acid independent LeWRKY1

Authors: M. Lu, L.F. Wang, X.H. Du, Y.K. Yu, J.B. Pan, Z.J. Nan, J. Han, W.X. Wang, Q.Z. Zhang and Q.P. Sun

Various plant genes can be activated or inhibited by phytohormones under conditions of biotic and abiotic stress, especially in response to jasmonic acid (JA) and salicylic acid (SA). Interactions between JA and SA may be synergistic or antagonistic, depending on the stress condition. In this study, we cloned a full-length cDN.. Read More»

Genet. Mol. Res. 14(4):
2015.November.30.16
DOI:
10.4238/2015.November.30.16
Medical Genetics   Research Article

Association of the LMNA gene single nucleotide polymorphism rs4641 with dilated cardiomyopathy

Authors: J. Yin, J. Yang, F.X. Ren, C.M. Sun, L.D. Li, L.Y. Han, S.L. Cai, C.H. Zhang, Z.Q. Zhang, Z.T. Zhang and H. Wang

Recently, studies on the pathogenesis of dilated cardiomyopathy (DCM) have focused on the underlying molecular biology and the association between single nucleotide polymorphisms (SNPs) and disease. This study was designed to explore the association between the rs4641 SNP of the LMNA gene and DCM in order to identify a new gen.. Read More»

Genet. Mol. Res. 14(4):
2015.November.30.20
DOI:
10.4238/2015.November.30.20
Medical Genetics   Research Article

Association between alcohol dehydrogenase 1C gene *1/*2 polymorphism and pancreatitis risk: a meta-analysis

Authors: F. Fang, J. Pan, G.H. Su, L.X. Xu, G. Li, Z.H. Li, H. Zhao and J. Wang

Numerous studies have focused on the relationship be­tween alcohol dehydrogenase 1C gene (ADH1C) *1/*2 polymorphism (Ile350Val, rs698, also known as ADH1C *1/*2) and pancreatitis risk, but the results have been inconsistent. Thus, we conducted a meta-anal­ysis to more precisely estimate this associati.. Read More»

Genet. Mol. Res. 14(4):
2015.November.30.2
DOI:
10.4238/2015.November.30.2
Medical Genetics   Research Article

A novel frameshift deletion in the COL1A1 gene identified in a Chinese family with osteogenesis imperfecta

Authors: N. Fan, J.B. Jonas, F. He, N.H. Yan, Y. Wang, L. Liu, D.L. Liu, L. Zhao, I.-H. Pang and X.Y. Liu

Osteogenesis imperfecta (OI) is a genetically heterogeneous group of disorders, characterized by abnormal bone fragility, blue sclera, deafness, joint laxity, and soft-tissue dysplasia. The purpose of this study was to elucidate the genetic or molecular basis for OI type IA in a Chinese family. We evaluated the members of a fa.. Read More»

Genet. Mol. Res. 14(4):
2015.November.30.5
DOI:
10.4238/2015.November.30.5
Medical Genetics   Research Article

Weak cation magnetic separation technology and MALDI-TOF-MS in screening serum protein markers in primary type I osteoporosis

Authors: X.L. Shi, C.W. Li, B.C. Liang, K.H. He and X.Y. Li

We investigated weak cation magnetic separation technology and matrix-assisted laser desorption ionization-time of flight-mass spectrometry (MALDI-TOF-MS) in screening serum protein markers of primary type I osteoporosis. We selected 16 postmenopausal women with osteoporosis and nine postmenopausal women as controls to find a .. Read More»

Genet. Mol. Res. 14(4):
2015.November.30.4
DOI:
10.4238/2015.November.30.4
Medical Genetics   Research Article

Clinical and cytogenetic results of a series of amniocentesis cases from Northeast China: a report of 2500 cases

Authors: N. An, L.L. Li, R.X. Wang, L.L. Li, J.M. Yue and R.Z. Liu

The aims of this study were to demonstrate the clinical and cytogenetic results of amniocentesis (AS) cases in Northeast China, to compare the incidence of different kinds of chromosomal abnormalities, and to study the association between the detection rate of chromosomal abnormalities and different indications for prenatal di.. Read More»

Genet. Mol. Res. 14(4):
2015.December.1.18
DOI:
10.4238/2015.December.1.18
Medical Genetics   Research Article

A genome-wide analysis of the ultimate pH in swine

Authors: H.Y. Chung, K.T. Lee, G.W. Jang, J.G. Choi, J.G. Hong and T.H. Kim

Meat pH is an important factor influencing meat quality traits in swine. This study evaluated a large number of genetic variants that covered all of the swine chromosomal regions. Approximately 68,000 single nucleotide polymorphisms (SNPs), found on Illumina Porcine SNP chips, were tested for associations with meat pH values. .. Read More»

Genet. Mol. Res. 14(4):
2015.December.1.19
DOI:
10.4238/2015.December.1.19
Medical Genetics   Research Article

Population genetic structure of Aedes albopictus in Penang, Malaysia

Authors: M.K.N. Zawani1, H.A. Abu1, A.B. Sazaly2, S.Y. Zary1 and M.N. Darlina1

The mosquito Aedes albopictus is indigenous to Southeast Asian and is a vector for arbovirus diseases. Studies examining the population genetics structure of A. albopictus have been conducted worldwide; however, there are no documented reports on the population genetic structure of A. albopictus in Malaysia, particularly in Penang. We examined the populat.. Read More»

Genet. Mol. Res. 13(4):
Medical Genetics   Research Article

Mutational analysis of podocyte genes in children with sporadic steroid-resistant nephrotic syndrome

Authors: D.N. Feng1*, Y.H. Yang1*, D.J. Wang1*, D.C. Meng1*, R. Fu1, J.J. Wang1 and Z.H. Yu1,2,3

Recent studies have demonstrated that mutations in 4 podocyte genes, NPHS1, NPHS2, CD2AP, and WT1, are associated with the pathogenesis of steroid-resistant nephrotic syndrome (SRNS). Systematic investigation of all 4 genes for sporadic SRNS in China has not been performed. We examined 10 Chinese children with sporadic SRNS who showed no response to immun.. Read More»

Genet. Mol. Res. 13(4):