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Human Genetics   Research Article

Ectodermal dysplasias (group A): elaborationof a computerized database to help withgenetic-clinical diagnosis(Displasias ectodérmicas do grupo A:elaboração de um banco de dadosinformatizado para auxílio ao diagnósticogenético-clínico)

Authors: Toni Lisboa Costa

Ectodermal dysplasias are conditions that involve structures derived from the ectoderm, such as the epidermis and its enclosures, constituting a large and complex nosologic group, composed of rare entities with genetic etiology (in their majority). Freire-Maia, in 1971 and 1977, proposed a clinical definition and a clinical-mn.. Read More»

Genet. Mol. Res. 1(3):
Human Genetics   Research Article

Molecular detection of XO - Turner syndrome

Authors: Carlos Alberto Longui, Mylene Neves Rocha,Liana Carla Albuquerque Peres Martinho,Gustavo Gir Gomes, Ricardo Eustachio de Miranda,Thomas Alves de Souza Lima, Mônica Barbosa Melo and Osmar Monte

Turner syndrome is caused by haploinsufficiency of the short arm of X-chromosome, and is usually diagnosed by karyotyping. This procedure is time-consuming, expensive and unfeasible for population screening. We propose molecular detection of 45XO Turner patients based on the ability of HpaII, a methylation sensitive endonuclea.. Read More»

Genet. Mol. Res. 1(3):
Human Genetics   Research Article

Frequencies of GSTM1, GSTT1, and GSTP1 polymorphisms in a Brazilian population

Authors: Ana Rossini, Davy C.M. Rapozo, Lídia M.F. Amorim, Jacyara M.B. Macedo1, Raquel Medina, José F.N. Neto, Cláudia V.M. Gallo and Luis F.R. Pinto

The glutathione S-transferase (GST) family of enzymes has a vital role in phase II of biotransformation of environmental carcinogens, pollutants, drugs and other xenobiotics. GSTs are polymorphic, with the type and frequency of polymorphism being ethnic dependent. Polymorphisms in GST genes have been shown to be associated wit.. Read More»

Genet. Mol. Res. 1(3):
Human Genetics   Research Article

Transferrin polymorphism in Central Amazon populations of pescada, Plagioscion squamosissimus

Authors: Aylton Saturnino Teixeira, Alan Jamieson and José Carlos Paula Raposo

lood plasma of 253 specimens from eight population samples of the sciaenid fish, pescada (Plagioscion squamosissimus), caught from four sites in the Central Amazon, was tested for molecular variants of transferrin. Starch gel electrophoresis was used to distinguish six species of transferrin molecules; 12 of the 21 theoretical.. Read More»

Genet. Mol. Res. 1(3):
Human Genetics   Book Review

A Student Handbook for Writing in Biology

Authors: Karin Knisely

 -.. Read More»

Genet. Mol. Res. 1(2):
Human Genetics   Research Article

Frequency of the hypervariable DNA loci D18S849, D3S1744, D12S1090 and D1S80 in a mixed ancestry population of Chilean blood donors

Authors: M. Acuña, H. Jorquera, L. Cifuentes and L. Armanet

Blood donors (N = 150) at San José Hospital (Santiago, Chile) were typed for one VNTR locus (D1S80) and three STR loci (D18S849, D3S1744, D12S1090). A questionnaire was used to determine the socioeconomic level of the donors, because it is known that some genetic markers (e.g., the ABO and Rh groups) are differentially .. Read More»

Genet. Mol. Res. 1(2):
Human Genetics   Research Article

Molecular cytogenetics in metaphase and interphase cells for cancer and genetic research,diagnosis and prognosis. Application in tissue sections and cell suspensions

Authors: Maria Mühlmann

As the pioneer among molecular cytogenetics techniques, fluorescence in situ hybridization (FISH) allows identification of specific sequences in a structurally preserved cell, in metaphase or interphase. This technique, based on the complementary double-stranded nature of DNA, hybridizes labeled specific DNA (probe). The probe.. Read More»

Genet. Mol. Res. 1(2):
Human Genetics   Research Article

Further phenotypic characterization of pso mutants of Saccharomyces cerevisiae with respect to DNA repair and response to oxidative stress

Authors: Cristina Pungartnik, Jaqueline Picada, Martin Brendel and João A.P. Henriques

The sensitivity responses of seven pso mutants of Saccharomyces cerevisiae towards the mutagens N-nitrosodiethylamine (NDEA), 1,2:7,8-diepoxyoctane (DEO), and 8-hydroxyquinoline (8HQ) further substantiated their allocation into two distinct groups: genes PSO1 (allelic to REV3), PSO2 (SNM1), PSO4 (PRP19), and PSO5 (RAD16) const.. Read More»

Genet. Mol. Res. 1(1):
Human Genetics   Research Article

Inheritance of resistance to the root-knot nematode Meloidogyne javanica in lettuce

Authors: Wilson Roberto Maluf, Sebastião Márcio Azevedo,Luiz Antonio Augusto Gomes and Ana Cláudia Barneche de Oliveira

Resistance to the root-knot nematodes Meloidogyne spp. would be a valuable attribute of lettuce Lactuca sativa L. cultivars grown in tropical regions. The looseleaf lettuce ‘Grand Rapids’ is resistant to both M. incognita and M. javanica. Resistance to M. incognita has a high heritability, under the control of a si.. Read More»

Genet. Mol. Res. 1(1):
Human Genetics   Viewpoint

The future of selection: individuality, the twin legacies of Lamarck & Darwin

Authors: Hugo Hoenigsberg

The different levels of biological hierarchy - genes, chromosomes, cells, species and communities - are different survival entities that require different heritable variations in fitness in order to function as units of selection in the evolutionary process. These entities have retained to varying degrees some of their primord.. Read More»

Genet. Mol. Res. 1(1):

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