RESUMO
To investigate if microdeletion of chromosome 22q11 is an epidemiologically important cause of congenital heart disease (CHD), we studied 25 cases with CHD phenotypes. Venous blood samples were tested by fluorescence in situ hybridization (FISH) for microdeletion of 22q11. Among 23 cases with simple CHD, 19 were shown not to have microdeletion of 22q11 and the other 4 cases were shown to have 22q11 microdeletion. Microdeletion of 22q11 was found in 2 cases with Tetralogy of Fallot (TOF) accompanied by multiple malformations. The results suggested that microdeletion of 22q11 was associated with CHD.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 22 , Cardiopatias Congênitas/genética , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Masculino , Tetralogia de Fallot/genética , Adulto JovemRESUMO
A large number of numerical and structural aberrations were analyzed in human tumor metastatic cells and 13q14 aberrations were frequently detected in some types of metastatic cancers. The rearrangement of 13q14 was identified previously in two lung adenocarcinoma cell lines with the same origin but different metastatic potential AGZY83-a and Anip973. BRI gene showed different expression levels in the cell lines as revealed by mRNA differential display (mRNA DD) in the two cell lines, and located in 13q14. In order to investigate the relationship between 13q14 abnormalities and tumor metastasis, a painting probe (13q) was used to hybridize three G-banded NSCLC cell lines with different metastatic potential. The major abnormality of 13q differs among different cell lines, including 13q32-33 frequent breakpoint in these three cell lines. But low metastatic potential cell lines PAa, SPC-1-A were not found breakpoint in 13q14, while 95D cell line with high metastatic potential had the common breakpoint 13q14 in two cell clones. The results suggested that the breakage at 13q14 may possibly be related to lung cancer metastasis. The affirmative relationship between 13q14 aberration and NSCLC needs further investigation.
Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 13/genética , Hibridização in Situ Fluorescente/métodos , Carcinoma Pulmonar de Células não Pequenas/genética , Carcinoma Pulmonar de Células não Pequenas/patologia , Linhagem Celular Tumoral , Bandeamento Cromossômico , Quebra Cromossômica , Perfilação da Expressão Gênica , Humanos , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/patologia , Metástase NeoplásicaRESUMO
OBJECTIVE: To investigate the sequence of amyloid fibrils (BRI) gene and its expression in two lung adenocarcinoma cell lines AGZY83-a and Anip973 with the same tumor origin but different metastatic potential. METHODS: DNA sequencing, sequential G banding fluorescence in situ hybridization (FISH) and Northern blot were used to analyze the sequence and expression of BRI gene was in two lung adenocarcinoma cell lines with different metastatic potential. RESULTS: The expression of BRI gene was up-regulated in the highly metastatic cell line Anip973 and was down-regulated in the low metastatic cell line AGZY83-a from which the Anip973 was derived. FISH results disclosed that in the two cell lines, the same rearrangements existed in the chromosome region where BRI gene was located, but in Anip973, amplification took place in the chromosome region where BRI gene was located. DNA sequencing results showed different mutations in the 5' untranslated region of BRI gene in the two cell lines. CONCLUSION: The above results revealed that there was no relation between BRI gene differential expression and rearrangements of chromosome. The amplification of the chromosome region where BRI gene was located and the different mutations in the 5' untranslated region of BRI gene probably contributed to the differential expression.