RESUMO
One-hundred three individuals from two Mongolian, two Siberian, and ten native American populations were studied in relation to a 340-bp sequence from an Alu insertion located in the 3' untranslated region of the LDLR gene. Seven haplotypes have been determined, and haplotype B1 was the most common, accounting for about half the sequences found. In general, diversity values are quite high, about 2.5 times higher than those found in other autosomal Alu sequences. Almost all (93%) of the variability occurs at the intrapopulation level, but the greatest among-group differentiation (6-8%) was found when we grouped in a single population all Native Americans plus Siberian Eskimos and Chukchi and compared them with Mongolians. This result is compatible with earlier mtDNA and Y-chromosome suggestions of a single origin for the first colonizers of the American continent. With this nuclear locus it was not possible to broadly distinguish between Central and South American natives. No evidence of selection or marked demographic changes was obtained with these data.
Assuntos
Regiões 3' não Traduzidas/genética , Elementos Alu/genética , Indígena Americano ou Nativo do Alasca/genética , Frequência do Gene , Variação Genética , Genética Populacional , Polimorfismo de Fragmento de Restrição , Indígena Americano ou Nativo do Alasca/etnologia , Povo Asiático/genética , Geografia , Haplótipos , Humanos , Inuíte/genética , Mongólia/etnologia , Sibéria/etnologiaRESUMO
To obtain more information on chromosomal changes in the up-to-now poorly studied tumor class of penile squamous cell carcinoma (SCC), we performed a comparative genomic hybridization study of 26 cases of this rare tumor. DNA sequence copy number alterations (CNAs) very similar to those detected in other SCC types, such as oral and esophageal SCC, were noted. The most common copy number gains were found in 8q24, 16p11-12, 20q11-13, 22q, 19q13, and 5p15, and the most common deletions were detected in 13q21-22, 4q21-32, and along the X chromosome. Classifying the patients according to the number of CNAs showed a possible correlation with clinical outcome.
Assuntos
Carcinoma de Células Escamosas/genética , Deleção Cromossômica , Amplificação de Genes/genética , Neoplasias Penianas/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Dosagem de Genes , Humanos , Masculino , Pessoa de Meia-Idade , Hibridização de Ácido NucleicoRESUMO
Because Kawasaki disease is a disorder characterized by lymphocyte activation and immune complex destruction of endothelial cells, we examined the effect of administration of high doses of intravenously administered immune globulin (IVIG) on a lymphocyte population with affinity for endothelial cells: the natural killer cells. We found that administration of high doses of IVIG resulted in a significant increase in the activity of natural killer cells and in the numbers of circulating CD16+ cells. Furthermore, a study of patients treated with IVIG for seizure disorders suggests that this effect of IVIG on circulating NK cells is not unique to patients with Kawasaki disease. The beneficial effect of IVIG in the treatment of Kawasaki disease may be due to the ability of IVIG to inhibit interaction between natural killer cells and endothelial cells.