ISSN:1424-8581    

DOI:10.1159/000134172

出版商:S. Karger AG    

年代:1996

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000134173

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

It has been proposed that interval 6 of the human Y chromosome contains the gene or genes that control spermatogenesis (AZF, azoospermia factor). We have studied this region in 33 patients with oligo- or azoospermia, using PCR amplification of the YRRM1 (RBM1) gene and of 13 sequence-tagged sites (STSs), all mapping within interval 6. Six of the 33 patients showed no amplification of specific STSs, whereas there was no failure of amplification in normal male controls. We deduce that these six patients had microdeletions in interval 6 of the Y chromosome that correlated with the oligo- or azoospermia of these individuals. On biopsy of the testis, two of these patients showed a low number of germ cells, and four showed arrest with spermatides. We conclude that PCR amplification of Y-specific regions is a powerful and very sensitive tool for screening infertile men.

ISSN:1424-8581    

DOI:10.1159/000134174

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

The collagenase type IV B gene (CLG4B) was previously mapped to human chromosome 16 by hybridization of a cDNA probe to DNAs from a somatic cell hybrid panel. We have relocalized CLG4B to chromosome 20 based on three different lines of evidence: screening a somatic cell hybrid mapping panel, fluorescence in situ hybridization (FISH), and linkage analysis using a newly identified polymorphism.

ISSN:1424-8581    

DOI:10.1159/000134175

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

A 1;30 tandem translocation was found in an 8-yr-old thoroughbred stallion referred because of reduced fertility. The diagnosis was confirmed by GTG and CBG staining. This is the first report of a tandem translocation in the horse.

ISSN:1424-8581    

DOI:10.1159/000134176

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

The effect of Colcemid on the frequency and type of chromosomal abnormalities in human sperm was investigated. Using the human sperm and zona-free hamster egg fusion technique, penetrated eggs were cultured in the presence or absence of Colcemid. We used two different times of Colcemid treatment: standard Colcemid treatment (Colcemid-5 h) or long Colcemid treatment (Colcemid-17 h). Each Colcemid series had its own control series without Colcemid, thus ensuring that Colcemid was the only significant variable. A total of 771 sperm karyotypes from one normal donor was analyzed: 286 in the Colcemid-5 h series, 262 in the Colcemid-17 h series, and 223 in the two control series. In both Colcemid series there was a significant increase in the frequencies of hypohaploidy vs. hyperhaploidy (9.4% and 7.3% vs. 2.4% and 1.1%, for the Colcemid-5 h and Colcemid-17 h series, respectively), in contrast to those obtained in the control series, in which the frequencies of hypohaploidy and hyperhaploidy were close to the 1:1 relationship (4.9% vs. 4.0%) expected from nondisjunction. There was a significant increase in the frequency of structural abnormalities in both Colcemid series (16.1% and 14.5 % for the Colcemid-5 h and Colcemid-17 h series, respectively) compared to the control series (6.3%). These results suggest that Colcemid significantly increases the frequency of hypohaploidy and unstable structural aberrations in human sperm.

ISSN:1424-8581    

DOI:10.1159/000134177

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

A translocation, t(17;22)(q22;ql 3), was identified in two cases of dermatofibrosarcoma protuberans (DP). They bring to four the number of DP cases characterized by an identical t(17;22)(q22;q13), which can be considered as a new tumor-associated chromosome rearrangement. To date, this translocation has been found only in DP and its juvenile form, giant-cell fibroblastoma. This finding has two major consequences. First, it casts light on the development and significance in DP of ring chromosomes which consistently harbor sequences derived from chromosomes 17 and 22. Second, the identification of this new chromosome marker, and eventually of the underlying molecular rearrangement, should help to classify DP, a soft-tissue tumor of still uncertain cell origin. In addition, it could be used to differentiate DP from truly benign or malignant entities, in order that this tumor of intermediate malignancy could be adequately managed.

ISSN:1424-8581    

DOI:10.1159/000134178

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

The human HSI gene (HCLS1, hematopoietic cell-specific Lyn substrate 1) expressed in human hematopoietic cells encodes a major substrate of protein-tyrosine kinase, p75HS1. This intracellular protein is involved in the signal transduction pathways that initiate at the antigen receptors of both B and T lymphocytes. Fluorescence in situ hybridization using a 2.0-kb cDNA and an 8.0-kb genomic DNA clone of HCLS1 as probes revealed that the gene maps to 3q13.

ISSN:1424-8581    

DOI:10.1159/000134179

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

Beta-microseminoprotein (MSP) is one of the major proteins secreted by the prostate, and its biological role in tumorigenesis of the prostate has been postulated. We assigned the human MSP gene (MSMB) to 10q11.2 with fluorescence in situ hybridization using a phage clone that has an MSP gene insert. Our mapping data shows that the gene is outside the previously identified LOH-regions (10p and 10q24→qter) in prostate cancer cells and indicates that MSMB can be ruled out as a candidate for a tumor suppressor gene localized to those region

ISSN:1424-8581    

DOI:10.1159/000134180

出版商:S. Karger AG    

年代:1996

数据来源: Karger

摘要:

The matrix metalloproteinase, matrilysin, is thought to play an important role in the early steps of tumor progression. We determined the chromosome location of the matrilysin gene (MMP7) by Southern and PCR analysis of two different panels of somatic cell hybrids and in situ hybridization of metaphase chromosomes. Matrilysin maps to the region, 11q21→q22, adding MMP7 to the cluster of matrix metalloproteinase genes that have already mapped to this regio

ISSN:1424-8581    

DOI:10.1159/000134181

出版商:S. Karger AG    

年代:1996

数据来源: Karger