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Human Genetics   Research Article

A multiplex panel of short-amplicon insertion-deletion DNA polymorphisms for forensic analysis

Authors: V.R.D. Santos, H.B. Pena and S.D.J. Pena

We have previously developed a panel of 40 insertion-deletion (INDEL) human DNA polymorphisms that was proven to adequately cover the span of global human genetic diversity. The panel was found to have very low matching probabilities with respect to both the global and Brazilian populations. To optimize the panel for application with degraded DNA samples,.. Read More»

Genet. Mol. Res. 14(2):
http://dx.doi.org/2015.April.10.2
DOI:
http://dx.doi.org/10.4238/2015.April.10.2
Human Genetics   Research Article

A multiplex single-base extension protocol for genotyping Cdx2, FokI, BsmI, ApaI, and TaqI polymorphisms of the vitamin D receptor gene

Authors: Lins TCL, Nogueira LR, Lima RM, Gentil P, Oliveira RJ and Pereira RW

The well-described role of the vitamin D endocrine system in bone metabolism makes its receptor a widely investigated candidate gene in association studies looking for the genetic basis of complex bone-related phenotypes. Most association studies genotype five polymorphic sites along the gene using PCR-RFLP and allele-specific.. Read More»

Genet. Mol. Res. 6(2):
Human Genetics   Research Article

Sexual recombination in Colletotrichum lindemuthianum occurs on a fine scale

Authors: E.A. Souza, O.A. Camargo Jr. and J.M.A. Pinto

Glomerella cingulata f. sp phaseoli is the sexual phase of the fungus Colletotrichum lindemuthianum, the causal agent of common bean anthracnose. This fungus is of great concern, because it causes large economic losses in common bean crops. RAPD markers of five populations of G. cingulata f. sp phaseoli from two Brazilian stat.. Read More»

Genet. Mol. Res. 9(3):
vol9-3gmr863
DOI:
10.4238/vol9-3gmr863
Human Genetics   Research Article

Association between PARK16 gene polymorphisms and susceptibility of Parkinson�s disease in a Chinese population

Authors: H. Xia, Q. Luo, X.X. Li and X.L. Yang

Recent genome-wide association studies identified 11 risk loci in different populations of familial and sporadic Parkinson’s disease (PD) patients. Few loci have been verified in different European and Asian populations. We also validated 2 new single-nucleotide polymorphisms, rs947211 and rs823144, in PARK16 to explore their association with suscep.. Read More»

Genet. Mol. Res. 14(2):
http://dx.doi.org/2015.April.10.7
DOI:
http://dx.doi.org/10.4238/2015.April.10.7
Medical Genetics   Case Reports

First-trimester prenatal diagnosis of pyruvate kinase deficiency in an Indian family with the pyruvate kinase-Amish mutation

Authors: Kedar PS, Nampoothiri S, Sreedhar S, Ghosh K, Shimizu K, Kanno H and Colah RB

Pyruvate kinase (PK) deficiency is a rare red cell glycolytic enzymopathy. The purpose of the present investigation was to offer prenatal diagnosis for PK deficiency to a couple who had a previous child with severe enzyme deficiency and congenital non-spherocytic hemolytic anemia. PK deficiency was identified in the family by .. Read More»

Genet. Mol. Res. 6(2):
Human Genetics   Research Article

Clinical significance of lymphatic vessel invasion in stage I non-small cell lung cancer patients

Authors: K.F. Ma, X.Y. Chu and Y. Liu

The aim of this retrospective study was to evaluate the prognostic influence of lymphatic vessel invasion (LVI) in stage I non-small cell lung cancer (NSCLC) patients. From January 2004 to December 2007, LVI was detected in 57 patients with T1N0M0 NSCLC; therefore, 114 patients with the same pathology, T stage, and surgery method, but without LVI, were se.. Read More»

Genet. Mol. Res. 14(1):
2015.March.13.10
DOI:
10.4238/2015.March.13.10
Microbial Genetics   Research Article

Identification of aac(2')-I Type b aminoglycoside-modifying enzyme genes in resistant Acinetobacter baumannii

Authors: T. Lin, C.G. Tang, Q.H. Li, J. Ji, H.Y. Ge, X.Y. Zhang and H.P. Sun

The aim of this study was to investigate the mechanism underlying the drug resistance of Acinetobacter baumannii toward aminoglycosides. A total of 32 A. baumannii strains were identified by molecular identification and subsequently isolated. The isolates were then amplified by polymerase chain reaction to analyze the 9 aminoglycoside-modifying enzyme gen.. Read More»

Genet. Mol. Res. 14(1):
2015.March.13.11
DOI:
10.4238/2015.March.13.11
Human Genetics   Research Article

A new strategy for complete identification of sea buckthorn cultivars by using random amplified polymorphic DNA markers

Authors: G. Yang, J. Ding, L.R. Wu, Y.D. Duan, A.Y. Li, J.Y. Shan and Y.X. Wu

DNA fingerprinting is both a popular and important technique with several advantages in plant cultivar identification. However, this technique has not been used widely and efficiently in practical plant identification because the analysis and recording of data generated from fingerprinting and genotyping are tedious and difficult. We developed a novel app.. Read More»

Genet. Mol. Res. 14(1):
2015.March.13.12
DOI:
10.4238/2015.March.13.12
Human Genetics   Research Article

Postpartum pelvic floor function performance after two different modes of delivery

Authors: H. Li, R.F. Wu, F. Qi, A.M. Xiao, Z. Ma, Y. Hu, W.Y. Zhang, W. Li and Z.C. Wang

This study investigated the incidences of urinary incontinence and pelvic organ prolapse as well as pelvic floor muscle strength after cesarean section and vaginal delivery. From June 2010 to July 2011, 149 puerpera in Shenzhen Hospital, Peking University, were divided into the cesarean section group (N = 66) and the vaginal delivery group (N = 83). Postp.. Read More»

Genet. Mol. Res. 14(2):
http://dx.doi.org/2015.April.10.9
DOI:
http://dx.doi.org/10.4238/2015.April.10.9
Human Genetics   Research Article

The L55M polymorphism of paraoxonase-1 is a risk factor for rheumatoid arthritis

Authors: M. Hashemi, A.K. Moazeni-Roodi, A. Fazaeli, M. Sandoughi, M. Taheri, G.R. Bardestani, Z. Zakeri, D.M. Kordi-Tamandani and S. Ghavami

Paraoxonase-1 (PON1) is a high-density lipoprotein-associated enzyme that exhibits antioxidant and antiatherogenic activities. We examined a possible association between T172A (L55M) and T(-107)C polymorphisms and rheumatoid arthritis. These polymorphisms were determined in 88 rheumatoid arthritis patients and 78 healthy subje.. Read More»

Genet. Mol. Res. 9(3):
vol9-3gmr893
DOI:
10.4238/vol9-3gmr893