摘要:

The human AQP2 (collecting duct water channel, aquaporin 2) gene encodes a 271 amino acid protein and is a member of the MIP (major intrinsic protein of lens fiber) gene family. Using two-color fluorescence in situ hybridization on high-resolution R-banded chromosomes and human genomic DNA clones for AQP2 and MIP as probes, we found that both genes mapped closely within the human chromosome region 12q13.

ISSN:1424-8581    

DOI:10.1159/000133885

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

The breast basic conserved gene (D16S444E) is a candidate tumor suppressor gene previously mapped to human chromosome 16. We determined the map position of D16S444E more precisely using a somatic mouse × human hybrid panel and fluorescence in situ hybridization on metaphase spreads and interphase nuclei. We show that the D16S444E gene is localized on band 16q24.3 and is located between APRT and D16S44

ISSN:1424-8581    

DOI:10.1159/000133886

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Fluorescent in situ hybridization in combination with Q-banding revealed that the human xanthine dehydrogenase (XDH) gene is located on band p23 of chromosome 2.

ISSN:1424-8581    

DOI:10.1159/000133887

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Double minutes (DMs) have been shown generally to lack centromeres. In the present paper we report on C-band-positive DMs in Colcemid-resistant SEWA cells. These DMs were heavily labeled after in situ hybridization with mouse major satellite DNA and, furthermore, reacted positively with antikinetochore antibodies. Upon antikinetochore antibody labeling, the immunofluorescent signals of some DMs were strong, indicating that they had functional centromeres.

ISSN:1424-8581    

DOI:10.1159/000133888

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

We describe a method for labeling specific chromosomes in situ by oligonucleotide-primed synthesis and incorporation of fluorochrome-labeled dUTP, together with an accelerated protocol for the reaction. The combination of the two developments produces extremely rapid results, in some cases taking less than 5 min for the complete process. The significance of this development for clinical diagnosis is discussed.

ISSN:1424-8581    

DOI:10.1159/000133889

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Mutations in the xanthine dehydrogenase gene (XDH), which codes for the last enzyme of the purine catabolic pathway in man, cause the autosomal recessive disease xanthinuria. We obtained cDNA clones from a human breast cDNA library and confirmed one of the two different sequences proposed for human XDH. Using a somatic cell hybrid mapping panel and specific primers for human XDH, we assigned the gene to chromosome 2. By fluorescence in situ hybridization, the gene was localized to bands 2p22.3→p22.2. The FLpter probe location was 0.135 (SD = 0.016), as determined by digital image analysi

ISSN:1424-8581    

DOI:10.1159/000133890

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Previous work has shown that females have lower recombination rates than males in two distantly related marsupial species, an American didelphid and an Australian dasyurid. We report here that the tammar wallaby (Macropus eugenii), which belongs to a third major group, has higher female recombination rates in two linked pairs. The nature of the sex differences in recombination rates in this species is thus similar to the situation in eutherian mammals.

ISSN:1424-8581    

DOI:10.1159/000133891

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

The chromosomal location of SCN5A, the gene encoding the principal voltage-gated Na+ channel expressed in human heart, has been determined by three independent methodologies: somatic cell hybrid mapping, chromosomal micro-dissection-polymerase chain reaction, and fluorescence in situ hybridization. The SCN5A gene was assigned to the short arm of chromosome 3 (band 3p21) by all three approaches. These data are further evidence that striated muscle Na+ channel genes are dispersed in the genome.

ISSN:1424-8581    

DOI:10.1159/000133892

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Mutations of the Tp53 tumor suppressor gene have been detected in 50% of all human cancers. The normal Tp53 gene product acts as a negative regulator of cell division or is associated with abnormal growth in certain differentiated cell types. The Tp53 gene was mapped by FISH to Syrian hamster chromosome 9 bands qb2.2→2.3 using a genomic DNA probe with a high degree of sequence identity to the human Tp53 gen

ISSN:1424-8581    

DOI:10.1159/000133893

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Cytogeneticists have long held that the single pair of metacentric, NOR-bearing “marked chromosomes” in lesser apes (Hylobatidae) and Old World monkeys (Cercopithecidae) are homologous. Hylobatids have sometimes been excluded from Hominoidea (great apes and humans) and phylogenetically allied with the lower primates, primarily on the basis of this shared “trait.” However, in situ hybridization of human chromosome-specific DNA probes to chromosomes of Hylobates lar, H. syndactylus, H. concolor, Cercopithecus aethiops, Macaco, fuscata, Colobus guereza, and Presbytis cristata showed that the so-called “marked chromosomes” in Hylobatidae and Cercopithecidae evolved by convergence. Therefore, “marked chromosomes” cannot be used to exclude gibbons from Hominoidea or to link Hylobatidae with monkeys. Chromosomal painting is a powerful tool to resolve problems of chromosomal homology and helps eliminate phylogenetic errors due to confusing convergence with homology. Chromosomal painting improves the confidence in using cytogenetic data for evolutionary studies, especially in phytoge

ISSN:1424-8581    

DOI:10.1159/000133894

出版商:S. Karger AG    

年代:1995

数据来源: Karger