RESUMO
The region on chromosome 7q21-22 is frequently altered in several human neoplasias such as uterine leiomyoma, myeloid leukemia and breast cancer. The same region has also been linked to split hand/split foot malformation type 1 and to involutional osteoporosis. Our analysis of genes that map to this region has led to the identification of the so far unknown first exon of the homeobox gene DLX6, a mammalian homologue of the Drosophila distal-less gene. Distal-less is a downstream target of the trithorax transcription factors. Translocations involving the mammalian homologue of trithorax, ALL-1, leading to its constitutive activation cause leukemia. We describe here that the first exons of human and mouse DLX6 genes contain a multiple trinucleotide repeat region. We have analyzed the CAG repeat length in 90 subjects and were able to identify five alleles with 11 to 20 CAG repeats.
Assuntos
Proteínas de Homeodomínio/genética , Repetições de Trinucleotídeos , Sequência de Aminoácidos , Animais , Sequência de Bases , Clonagem Molecular , DNA/análise , Primers do DNA/química , Éxons/genética , Humanos , Camundongos , Dados de Sequência Molecular , Polimorfismo Genético , Biossíntese de Proteínas , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Homologia de Sequência de Aminoácidos , Homologia de Sequência do Ácido NucleicoRESUMO
The histological examination of the placenta helps to better understand both pathological pregnancies and fetal growth defects, therefore the true beneficiary of the histological diagnosis is the newborn. Of the 492 newborns born between the 1o April and 30 June 2000 we analyzed 142 placentas, following a modified Macpherson e Szulman's protocol. Only 73 of the 142 newborns have been hospitalized in the pathological division. The placental histological diagnosis of the remaining 69 hospitalized in "Rooming in" showed that only 10 placentas were in the normality; 22 placentas showed alterations referable to a dysmetabolic, dysglicicemyc and hypertension maternal pathology without there being lesions that could interfere with the development and maturation of the fetus; 37 placentas showed indicative lesions of hypoxic and ischemic fetal sofference of varing gravity. These data show how the histological examination of the placenta has many benefits in the immediate care of newborns, in subsequent evaluations and in the pediatric age.