Research Article

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Diabetes type 1; HLA; Human leukocyte antigen system

We studied HLA DQB1 allele frequencies and the relative risk (RR) of various genotypes in 72 type 1 diabetic patients and 40 control individuals in Uruguay. This is a tri-racial (Caucasian, Black and Indo-American) mixed population. The products of the polymerase chain reaction amplifications were hybridized with oligonucleotides by allele-specific oligonucleotide reverse or dot blot ... more

A. Mimbacas; F. Pérez-Bravo; P.C. Hidalgo; G. Javiel; C. Pisciottano; R. Grignola; A.María Jorge; J.Pablo Gallino; J. Gasagoite; H. Cardoso
Antibodies; Diabetes mellitus; HLA

To differentiate among different types of diabetes is becoming an increasingly challenging task. We investigated whether the patient’s genetic profile is useful to identify the particular type of diabetes, to determine the corresponding hyperglycemia pathogenesis and treat accordingly. Three hundred and thirty-eight diabetic patients, diagnosed according to American Diabetes Association ... more

A. Mimbacas; L. García; P. Zorrilla; M. Acosta; C. Airaudo; R. Ferrero; A. Pena; B. Simonelli; E. Soto; G. Vitarella; J. Fernandez; G. Javiel
Complex disease; Gene identification; HLA; Rectal cancer

A new study design based on cross-validation of the age at the onset of rectal cancer and the differences between the frequency distributions of relevant genes in 2 groups was developed for identification of disease-related HLA. Patients with rectal cancer were recruited and their age at the time of the first surgery was recorded. The genetic variants of HLA-DQB1 were genotyped using an ... more

F.Z. Tong; W.J. Yu; H. Liu
Breast cancer; Polymorphisms; RAD51-G135C; XPD-Lys751Gln; XRCC1-Arg399Gln; XRCC3-Thr241Met

Several studies have reported that the genes involved in DNA repair and in the maintenance of genome integrity play a crucial role in protecting against mutations that lead to cancer. Epidemiologic evidence has shown that the inheritance of genetic variants at one or more loci results in a reduced DNA repair capacity and in an increased risk of cancer. Polymorphisms have been ... more

R.Mucha Dufloth; S. Costa; F. Schmitt; L.Carlos Zeferino
DNA; Minisequencing; Multiplex; Polymorphisms; Single nucleotide polymorphisms

Several technologically sophisticated high-throughput techniques have been recently developed for the study of human single nucleotide polymorphisms and the diagnosis of point mutations in human diseases. However, there is also a need for simple and inexpensive techniques suitable for clinical services and small research laboratories. Minisequencing meets the latter requirements. It is ... more

C.M.B. Carvalho; S.D.J. Pena
Childhood acute lymphoblastic leukemia; Haplotypes; Mexicans; Polymorphisms; XRCC1

We examined the influence of the Arg194Trp, Arg280His, and Arg399Gln polymorphisms of XRCC1 (X-ray repair cross-complementing group 1) on the development of childhood acute lymphoblastic leukemia (ALL) in 120 ALL patients and 120 controls in Mexico. All of them were genotyped for these polymorphisms, using polymerase chain reaction. No significant differences in allele and ... more

J.P. Meza-Espinoza; V. Peralta-Leal; M. Gutierrez-Angulo; N. Macias-Gomez; M.L. Ayala-Madrigal; P. Barros-Nuñez; J. Duran-Gonzalez; E. Leal-Ugarte
Breast cancer; estrogen; Hereditary disease; Polymorphisms

The association of tumor differentiation and estrogen receptor expression with the prognosis of breast cancer has been well established. Nevertheless, little is yet reported about the association of morphological characteristics of the tumor, estrogen receptor status and polymorphisms in low penetrance genes. The aim of the present study was to investigate a possible association between DNA ... more

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Allele specific polymerase chain reaction; Mexican populations; Orosomucoid; Polymorphisms; Sequencing; Teenek Amerindians

The human orosomucoid 1 gene (ORM1) codes an alpha-1-acid glycoprotein that has been classified as an acute-phase reactive protein, and a major drug-binding serum component, as well as an immunomodulatory protein with genetic polymorphisms. Evaluation of ORM variation through isoelectric focusing and immunobloting has revealed a world-wide distribution of the ORM1 F and ORM1 S alleles. We ... more

L. García-Ortiz; G. Vargas-Alarcón; J.M. Fragoso; J. Granados; M. Noriega; N. Pérez; H. Reyes; J.C. Zenteno-Ruiz; E. Martínez-Cordero
hOGG1; Oxidative stress; Polymorphisms; XPD

Knee replacement surgery is an ischemia/reperfusion model, as it uses tourniquet applied to the knee area to stop the blood flow during the operation. Fifty patients that were undergoing elective arthroscopic knee surgery were included in our study. Human 8-oxoguanine glycosylase 1 (hOGG1) is an enzyme to repair specific DNA lesions and a good marker of hydroxyl radical damage to DNA. XPD ... more

O. İsbir; U. Gormus; H.A. Ergen; B. Cakmakoglu; Ö.T. Kahraman; N. Baykan
Body measurement traits; Cattle; MyoG; Polymorphisms

Using PCR-SSCP and DNA sequencing technology, we examined the association of single nucleotide polymorphisms (SNPs) in the bovine MyoG gene with body measurement traits in 779 individuals of six native Chinese cattle breeds, namely Luxi, Luxi × Simmental crossbred, Nanyang, Xia’nan, Jiaxian red, and Qinchuan. A novel SNP, T314C, was detected. Allelic frequencies of MyoG- ... more

M. Xue; L.S. Zan; L. Gao; H.B. Wang