RESUMO
The polymorphics of two pericentric (GT)n sequences on the long arm of human chromosome 21 have been analyzed after PCR amplification, PAGE and Ag-staining for the first time in 50 Chinese Han people, and were used to detect meiotic origin of the extra chromosome 21 in Down syndromes. Six and 5 alleles were found in Chinese Han people for D21S215 and D21S120, respectively, with observed heterozygosities of 0.68 and polymorphic information content PIC, 0.67 and 0.65. For 17 Down syndromes whose parental origin of the extra chromosome 21 were known, meiotic origin of the extra chromosome 21 were determined in 16 cases, with 7 and 4 maternal meiosis I and II nondisjunction, 2 and 3 paternal meiosis I and II, respectively. The possible biological significance of the study on origin of the extra chromosome 21 has been discussed.
Assuntos
Cromossomos Humanos Par 21 , Síndrome de Down/genética , Marcadores Genéticos , Meiose , Feminino , Humanos , Masculino , Polimorfismo GenéticoRESUMO
A novel human zinc finger gene, ZNF191, was assigned to chromosome 18 by hybridization of human/rodent hybrid cell panel to a full-length cDNA as a probe. Meanwhile, a human genomic DNA lambda/DASH library was screened using this cDNA probe and several positive clones were obtained. Fluorescence in situ hybridization (FISH) was performed by using one of these positive clones, 16-1, as a probe. Thus, the ZNF191 gene was precisely mapped in 18q12. 1. To date, some hereditary diseases and tumors have been found to be associated with this region by analysis of genetic linkage and loss of heterozygosity. Hence, it suggested that the gene ZNF191 can be taken as a candidate gene responsible for those diseases and tumors.
Assuntos
Cromossomos Humanos Par 18 , Proteínas de Ligação a DNA/genética , Dedos de Zinco , Mapeamento Cromossômico , Humanos , Hibridização in Situ Fluorescente , Fatores de Transcrição Kruppel-LikeRESUMO
By low stringency PCR amplification of genomic DNA using the primers designed based on the conservation of zinc finger motif, we got 8 gradient eletrophoretic bands. After recovery of the second and third bands, the DNA fragments in them were cloned and sequenced. Compared to the GenBank database, among these 60 segments containing zinc finger motif, 23 segments were novel zinc finger genes' genomic segments. Then the human brain tissue cDNA library was screened, using these segments as probes, and 44 positive clones were obtained. Rescreening 28 of them, we got 20 rescreened clones. All of them were sequenced and sent to the GenBank DNA database for sequence analysis, the results showed that 16 were novel C2H2 type zinc finger protein cDNA segments. The cDNA segments encoding the novel C2H2 type zinc finger proteins provide the basic materials for cloning of full length cDNA of valuable novel zinc finger protein genes.
Assuntos
Química Encefálica/genética , Dedos de Zinco/genética , Sequência de Aminoácidos , Biblioteca Gênica , Humanos , Dados de Sequência Molecular , Reação em Cadeia da PolimeraseRESUMO
AIM: To evaluate the role of p53 in the development and progression of colorectal cancer and gastric carcinoma by analyzing the loss of heterozygosity (LOH) at 17p13.1 and 17p13.3. METHODS: LOH at the p53 gene locus and 17p13.3 were examined in 22 cases of gastric carcinoma and 14 cases of colorectal cancer by Southern blot analysis. RESULTS: Of the 22 gastrocarcinoma cases, 12 (54%) were heterozygous and LOH was detected in 6 (50%) of the 12 informative cases. In the 14 colorectal cancer cases, 10 (71%) were heterozygous, and LOH was detected in 6 (60%) of the 10 informative cases. CONCLUSION: LOH at the p53 gene locus is a frequent event in multiple step carcinogenesis progression. The high frequency of LOH at 17p13.3 suggests that there may be another tumor suppresser gene in that chromosome region.
