RESUMEN
The aim of the study is to determine the diagnostic utility of several islet autoantibodies and their combinations in order to identify individuals susceptible to type 1 diabetes mellitus (T1DM) among healthy siblings in the pediatric population within the scope of the development of a screening program. MATERIALS AND METHODS: A total of 424 children were evaluated, 260 children with new-onset T1DM and 164 healthy children with brothers and/or sisters with T1DM.Blood tests for a complex of autoantibodies to insulin (IAA), tyrosine phosphatase (IA-2A), zinc transporter 8 (ZnT8A), pancreatic ß-cells (ICA), and glutamate decarboxylase (GADA) were conducted in all the subjects with the enzyme immunoassay method. RESULTS: It was found that the diagnostic utility of individual autoantibodies is not equal and varies with age. The optimal age groups for the immunological control of the risks of developing type 1 diabetes in healthy siblings were determined. The highest risks were noted with the combination of GADA, ZnT8A, and IA-2A. CONCLUSION: Islet autoantibodies may serve as prognostic markers of the risk of developing type 1 diabetes in healthy siblings.
Asunto(s)
Diabetes Mellitus Tipo 1 , Islotes Pancreáticos , Autoanticuerpos , Niño , Diabetes Mellitus Tipo 1/diagnóstico , Glutamato Descarboxilasa , Humanos , Masculino , HermanosRESUMEN
The Human Genome Project stimulated the development of efficient strategies and relevant hardware for complete genome sequencing. The comparative genomic approach extends the possibilities of using the sequencing data to identify new genes or conserved regulatory regions by means of nucleotide sequence alignment of the particular regions of the mouse and human genomes, or to trace the evolutionary events resulting in the genome structure of modern mammals. The review focuses on the use of new molecular cytogenetic methods along with computer-aided analysis of the genomes in vertebrates. Several factors hindering data analysis are considered. The currently available information on gene evolution rate inferred from comparative genomic data is presented. The origin and evolution of the genomes of several species are discussed.
Asunto(s)
Genómica , Vertebrados/genética , AnimalesRESUMEN
Deletions in the region located between the STS markers D13S1168 and D13S25 on chromosome 13 are the most frequent genomic changes in patients with B-cell chronic lymphocytic leukemia (B-CLL). After sequencing of this region, two novel candidate genes were identified: C13orf1 (chromosome 13 open reading frame 1) and PLCC (putative large CLL candidate). Analysis of the repeat distribution revealed two subregions differing in composition of repetitious DNA and gene organization. The interval D13S1168-D13S319 contains 131 Alu repeats accounting for 24.8% of its length, whereas the interval GCT16C05-D13S25, which is no more than 180 kb away from the former one is extremely poor in Alu repeats (4.1% of the total length). Both intervals contain almost the same amount of the LINE-type repeats L1 and L2 (20.3 and 21.24%, respectively). In the chromosomal region studied, 29 Alu repeats were found to belong to the evolutionary young subfamily Y, which is still capable of amplifying. A considerable proportion of repeats of this type with similar nucleotide sequences may contribute to the recombinational activity of the chromosomal region 13q14.3, which is responsible for its rearrangements in some tumors in humans.
Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 13 , Leucemia Linfocítica Crónica de Células B/genética , Transcripción Genética , Mapeo Cromosómico , HumanosRESUMEN
Chronic consumption of the highly specific angiotension-converting enzyme inhibitor captopril was found to decrease the activity of the enzyme in the rat hypothalamus and striatum and to enhance it in the pituitary and blood serum. The agent also increased the activity of carboxypeptidase N in the serum and that of carboxypeptidase H in the pituitary. Reserpine, a catecholaminergic blocking agent, reduces the pituitary and serum activities of angiotensin-converting enzyme and activates soluble carboxypeptidase H in the pituitary and striatum and membrane-bound carboxypeptidase in the hypothalamus and striatum. Possible mechanisms of action of captopril and reserpine on the activity of the enzymes in question, as well as a contribution of these enzymes to their antihypertensive effect are discussed in the paper.