ISSN:1424-8581    

DOI:10.1159/000133701

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

Single color fluorescence in situ hybridization (FISH) has been utilized on sperm to estimate nondisjunction rates for chromosomes 1, 12, 15, 16, X and Y. Using single-color FISH, one cannot distinguish nonhybridization from nullisomy nor disomy from diploidy. In order to provide an internal control, a multicolor FISH strategy was employed. Satellite probes specific for 13 human chromosomes were used on multiple semen samples from two normal donors. Two or three probes were hybridized simultaneously and scored by two independent observers. Over all experiments, 40,641 sperm were analyzed. The majority of autosomes had no significant difference in aneuploidy between chromosomes or between donors. However, a significant difference was observed for chromosome 18 between donors (χ22 = 7.078, 0.025 < P < 0.05). Additionally, no significant difference was found between donors for sex chromosome aneuploidy. The frequency of sex chromosome aneuploidy was similar to that seen in paternally derived 47, XXY and 47, XYY conceptuses. Furthermore, 0.15% of sperm were found to be diploid. Based on the results of this study, as much as 19% of all sperm may be chromosomally abnormal. This method proved to be useful for determining aneuploidy of human chromosomes in sperm and valuable in exploring whether individual differences of nondisjunction exist

ISSN:1424-8581    

DOI:10.1159/000133702

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

The cDNA for human galactocerebrosidase (GALC) has recently been cloned and expressed. A portion of this cDNA was used for in situ hybridization, and the region of strongest signal corresponded to human chromosome region 14q31. This agrees with recent linkage studies that localized Krabbe disease (globoid cell leukodystrophy) to the same region. This information will be useful in future studies for mapping this gene in animal models of GALC deficiency.

ISSN:1424-8581    

DOI:10.1159/000133703

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

The mouse 5S rRNA gene was mapped by direct R-banding fluorescence in situ hybridization (FISH) with biotinylated probes. Two genomic fragments amplified by PCR from total genomic DNA of BALB/c mice and Mus spretus, a 0.16-kb fragment that included the 121 -bp 5S rRNA gene and a 1.6-kb fragment that included the whole spacer region, were used for chromosomal mapping of the 5S rRNA gene. Both fragments hybridized to a single locus on a pair of autosomal chromosomes of BALB/c mice. The major cluster of mouse 5S rRNA genes was assigned to the most terminal R-negative to R-positive bands of the E region of mouse Chromosome 8, which is homologous to the linkage of the 5S rRNA gene on the long arm of human chromosome 1. The location of the 5S rRNA gene was mapped in five laboratory strains, in wild mice of six Mus musculus subspecies (domesticus, brevirostris, musculus, bactrianus, castaneus, and molossinus) derived from 10 separate localities, and in four different Mus species (spretus, hortulanus, spicilegus, and caroli), using FISH. The 5S rRNA cluster mapped to the same position on the chromosomes of all mouse species and subspecies studied. These results suggest that the location of the mouse 5S rRNA gene on the distal telomeric region of Chromosome 8 is evolutionarily conserved. In comparison, the chromosomal assignments of centromeric 18S-28S rRNA genes are highly variable among the different M. musculus subspecies and Mus species.

ISSN:1424-8581    

DOI:10.1159/000133704

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

Restriction fragment length polymorphisms (RFLPs) demonstrating X-linked inheritance have been identified for proteolipid protein (PLP) and thyroxine-binding globulin (TBG) in sheep. Genetic linkage between ovine PLP and TBG was examined in a three-generation flock containing 122 individuals. Significant linkage between the loci was observed with a combined lod score of 7.48 at a recombination fraction of 5 cM.

ISSN:1424-8581    

DOI:10.1159/000133705

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

The search for mitochondrial DNA (mtDNA) defects in oncocytic neoplasms has been the subject of several recent studies. We have performed qualitative and quantitative analysis of nuclear and mitochondrial DNAs in a series of 19 renal and 12 thyroid oncocytic tumors to identify specific alterations that might predict the clinical and biological behavior of these tumors. Allelic losses were seen in 2 of 19 renal tumors and 5 of 12 thyroid tumors. Among all loci (3p, 3q, 9q, 10q, 11p, 17p, and 17q) that showed losses, losses at 10q (one renal tumor and three thyroid tumors) were significantly higher (P < 0.05) than expected. Analysis of the COX I region previously reported to be altered in oncocytomas and the delta-loop region of mtDNA showed no detectable abnormalities in the restriction pattern in 10 renal and five thyroid tumors. PCR analysis of the commonly deleted 4,977-bp region failed to detect an increased frequency of mtDNA deletions in tumors compared to the controls. In addition, segmental amplification of the complete mtDNA from a renal oncocytoma using nine sets of primers revealed no gross alteration in mtDNA. Oncocytic tumors showed a mean 5-fold increase in mitochondrial DNA, which was significant (P < 0.001) when compared to corresponding controls. The relative increase in the cellular content of mtDNA may be associated with alterations in the normal coordinated interaction between the nuclear and mitochondrial genomes. Allelic deletions at 1 Oq may be significant in the biology of oncocytic tumors, and their impact on the clinical behavior of these tumors warrants further investigation.

ISSN:1424-8581    

DOI:10.1159/000133706

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

The chromosomal localization of the gene encoding Aquaporin 2 (previously called WCH-CD), which acts as a water channel in the collecting tubules of the kidney, was determined. Southern blot hybridizations of chromosomal DNA from a panel of 25 different human-rodent hybrid cell lines assigned AQP2 to the q-arm of human chromosome 12. Additionally, in situ hybridization on R-banded metaphase chromosomes localized AQP2 to the q12→q13 region of this chromosom

ISSN:1424-8581    

DOI:10.1159/000133707

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

The gene coding for Zn-α2-glycoprotein (AZGPl), a human protein with a high degree of similarity to class I major histocompatibility complex (MHC) antigens, was mapped by fluorescent in situ hybridization to chromosome 7q22, a common breakpoint in myelodysplastic syndromes. Since classical MHC genes map on chromosome 6, this assignment indicates that besides duplication of the putative common ancestor gene, transposition events to different chromosomes have also been involved in the evolutionary diversification of this gene family

ISSN:1424-8581    

DOI:10.1159/000133708

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

The POU proteins BRN-3a, -3b and -3c are transcription factors encoded by separate genes that are differentially expressed during neural development. Comparison of genomic and cDNA sequences revealed similar exon/intron structures for Brn-3a and -3c genes, whereas the Brn-3b gene appeared to contain an intronless coding region. Fluorescence in situ hybridization experiments with mouse chromosomes showed that Brn-3a maps to mouse chromosome 14E1-3, Brn-3b to XF1-5 and Brn-3c to 18B3-E1.

ISSN:1424-8581    

DOI:10.1159/000133709

出版商:S. Karger AG    

年代:1994

数据来源: Karger

摘要:

We have subregionally mapped 8 independently derived probes which have been assigned to chromosome 6 (D6S61, D6S134, D6S149, D6S155, MACS, VIL2, IGF2R and PLG) by FISH. All the probes were mapped to the long arm of chromosome 6 except D6S61, which was assigned to the short arm at 6p25. The remaining probes were clustered at the 6q25→q27 region except MACS which was mapped to 6q22.

ISSN:1424-8581    

DOI:10.1159/000133710

出版商:S. Karger AG    

年代:1994

数据来源: Karger