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Human Genetics

Human Genetics   Research Article

Ethnic variation of the C677T and A1298C polymorphisms in the methylenetetrahydrofolate-reductase (MTHFR) gene in southwestern Mexico.

Authors: V. Antonio-V�©jar, O. del Moral-Hern�¡ndez, L.C. Alarc�³n-Romero, E. Flores-Alfaro, M.A. Leyva-V�¡zquez, D. Hern�¡ndez-Sotelo and B. Illades-Aguiar

In this study, we examined the distribution of genotype and allele frequencies of the C677T and A1298C polymorphisms in the methylenetetrahydrofolate-reductase gene (MTHFR) in two ethnic groups in the State of Guerrero, Mexico, which were compared with those of the Mestizo population of the region. A comparative study was cond.. Read More»

Genet. Mol. Res. 13(3):
2014.September.29.8
DOI:
10.4238/2014.September.29.8
Human Genetics   Research Article

Genetic divergence between Mexican Opuntia accessions inferred by polymerase chain reaction-restriction fragment length polymorphism analysis

Authors: S. Samah, E. Valadez-Moctezuma, K.S. Pel�¡ez-Luna, S. Morales-Manzano, P. Meza-Carrera and R.C. Cid-Contreras

Molecular methods are powerful tools in characterizing and determining relationships between plants. The aim of this study was to study genetic divergence between 103 accessions of Mexican Opuntia. To accomplish this, polymerase chain reaction (PCR)-restriction fragment length polymorphism analysis of three chloroplast interge.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027786
DOI:
10.4238/gmr.15027786
Human Genetics   Research Article

Microarray analysis of microRNA deregulation and angiogenesis-related proteins in endometriosis

Authors: R.Q. Yang, H. Teng, X.H. Xu, S.Y. Liu, Y.H. Wang, F.J. Guo and X.J. Liu

We examined the aberrant microRNA (miRNA) expression profile responsible for the changes in angiogenesis observed in endometriotic lesions. This study revealed characteristic miRNA expression profiles associated with endometriosis in endometrial tissue and endometriotic lesions from the same patient, and their correlation with.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027826
DOI:
10.4238/gmr.15027826
Human Genetics   Research Article

Assessment of genetic diversity of wheat genotypes by resistance gene analog-EST markers

Authors: O. Karakas, F. Gurel and A.A. Uncuoglu

Resistance gene analog-expressed sequence tag (RGA-EST)-based markers have been used for variety discrimination and studies of genetic diversity in wheat. Our aim is to increase the competitiveness of public wheat breeding programs through intensive use of modern selection technologies, mainly marker-assisted selection. The ge.. Read More»

Genet. Mol. Res. 10(2):
vol10-2gmr1065
DOI:
10.4238/vol10-2gmr1065
Human Genetics   Research Article

Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities

Authors: C.F. Rocha and C.L.A. Paiva

Prader-Willi syndrome (PWS) is caused by the lack of expression of genes located on paternal chromosome 15q11-q13. This lack of gene expression may be due to a deletion in this chromosomal segment, to maternal uniparental disomy of chromosome 15, or to a defect in the imprinting center on 15q11-q13. PWS is characterized by hyp.. Read More»

Genet. Mol. Res. 13(1):
2014.March.31.9
DOI:
10.4238/2014.March.31.9
Human Genetics   Research Article

Correlation between sperm ultrastructure in infertile patients with abnormal sperm morphology and DNA damage

Authors: M. He and L. Tan

This study explored the correlation between sperm ultrastructure in infertile patients with abnormal sperm morphology and DNA damage. Three unusual sperm morphologies were selected for the experimental group namely case 1 (95% headless sperm), case 2 (98% headless sperm), and case 3 (100% headless sperm), and the control group consisted of 2 subjects (20 .. Read More»

Genet. Mol. Res. 14(4):
2015.December.15.6
DOI:
10.4238/2015.December.15.6
Human Genetics   Research Article

Screening for mutations in RPGR and RP2 genes in Jordanian families with X-linked retinitis pigmentosa

Authors: M.F. Haddad, O.F. Khabour, K.A.Y. Abuzaideh and W. Shihadeh

Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous disease causing progressive degeneration of retinal photoreceptor cells. X-linked RP (XLRP), in which photoreceptor degeneration begins in early childhood and complete blindness often occurs by the fourth decade of life, constitutes the most severe form of.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027842
DOI:
10.4238/gmr.15027842
Human Genetics   Research Article

Association of KCNJ11 with impaired glucose regulation in essential hypertension

Authors: Y. Wang, X.O. Zhou, Y. Zhang, P.J. Gao and D.L. Zhu

KCNJ11 is one of the candidate genes for type 2 diabetes, confirmed by genome wide association study, but there are little data on the relationship between KCNJ11 and impaired glucose regulation in essential hypertension patients. To identify the effect of E23K and I337V in the KCNJ11 gene on susceptibility to impaired glucose.. Read More»

Genet. Mol. Res. 10(2):
vol10-2gmr1127
DOI:
10.4238/vol10-2gmr1127
Human Genetics   Research Article

miR-124 radiosensitizes human esophageal cancer cell TE-1 by targeting CDK4

Authors: Y.H. Zhang, Q.Q. Wang, H. Li, T. Ye, F. Gao and Y.C. Liu

Radiotherapy is one of the most important treatments for esophageal cancer, but radioresistance remains a major challenge. Previous studies have shown that microRNAs (miRNAs or miRs) are involved in human cancers. miR-124 has been widely reported in various cancers and it is intimately involved in proliferation, cell cycle reg.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027893
DOI:
10.4238/gmr.15027893
Human Genetics   Research Article

Analysis of the polymorphisms XRCC1Arg194Trp and XRCC1Arg399Gln in gliomas

Authors: A.C. Cust�³dio, L.O. Almeida, G.R. Pinto, M.J. Santos, J.R.W. Almeida, C.A. Clara, J.A. Rey and C. Casartelli

XRCC genes (X-ray cross-complementing group) were discovered mainly for their roles in protecting mammalian cells against damage caused by ionizing radiation. Studies determined that these genes are important in the genetic stability of DNA. Although the loss of some of these genes does not necessarily confer high levels of se.. Read More»

Genet. Mol. Res. 10(2):
vol10-2gmr1125
DOI:
10.4238/vol10-2gmr1125