ISSN:1424-8581    

DOI:10.1159/000133399

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

Two hundred and twenty-three radiation hybrids retaining random fragments of human chromosome 16 were isolated during two successive experiments in HAT medium and screened with a total of 38 DNA probes, corresponding to anonymous DNA or gene sequences localized on chromosome 16. The presence of single or multiple human chromosomal fragments in a small subset of these hybrids was determined using in situ hybridization with total human DNA. The results confirm that individual radiation hybrids are often heterogeneous with respect to the retention and distribution of human fragments, as already suggested by their characterization with DNA probes. A number of these 223 radiation hybrids, whose detailed characterization has not been previously reported, represent a resource for the rapid isolation of new DNA markers or coding sequences from specific regions of chromosome 16 where human disease genes are already known to map.

ISSN:1424-8581    

DOI:10.1159/000133413

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

A 3.5-kb cDNA probe containing the 23 exons from the coding sequence of human nuclear NAD+ ADP-ribosyltransferase (poly [ADP-ribose] polymerase [ADPRT], E.C.2.4.2.30) was used to map the gene and two additional sites by nonisotopic in situ chromosomal hybridization. The previous localization of the structural gene on 1q42 was confirmed. Two other hybridization peaks on 13q34 and 14q24 suggested the presence of ADPRT pseudogenes.

ISSN:1424-8581    

DOI:10.1159/000133400

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

The gene for the β-chain of the human GM-CSF receptor (CSF2RB) has been mapped to chromosome 22 by PCR analysis of a series of human × rodent somatic cell hybrids. In situ hybridization to normal human chromosomes and two translocations involving chromosome 22 and the chromosome expessing the rare fragile site FRA22A place the gene in the region 22q12.2→q13.1, proximal to the fragile s

ISSN:1424-8581    

DOI:10.1159/000133401

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

The human clusterin (SP-40,40) gene, designated CLI (complement lysis inhibitor) by the Human Gene Nomenclature Committee, has previously been assigned to chromosome 8. In situ hybridization allowed us to map the locus at 8p12→p2

ISSN:1424-8581    

DOI:10.1159/000133402

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

The chromosomal localization of the human gene (CRYBA4) coding for the eye lens protein βA4-crystallin has been carried out using a nearly full-length cDNA clone encoding bovine βA4-crystallin. A panel of 21 human-mouse or human-hamster hybrid cell lines derived from different parental combinations was characterized with respect to the human chromosomal content and the presence of well established human chromosome-specific markers. These panels were screened for the presence of CRYBA4 using the bovine cDNA clone as a probe. A 100 percent concordance was observed between the presence or absence of the CRYBA4 and human chromosome 22 indicating that the gene resides on this chromosome. By using cell hybrids containing translocated chromosome 22 segments, the localization could be refined to the region 22q11.2→q1

ISSN:1424-8581    

DOI:10.1159/000133403

出版商:S. Karger AG    

年代:1992

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000133404

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

Prealbumin is a serum protein which plays an important role in plasma transport of retinol and thyroxine. The accumulation of a variant prealbumin is associated with a hereditary disorder, familial amyloidotic polyneuropathy (FAP). In situ hybridization with a mouse prealbumin gene cDNA probe was carried out in mouse fibroblasts. Analysis of 114 R-banded metaphases showed that 13 % of the total grains were located on chromosome 4 and 46% of the grains on this chromosome were in the region C6–D1. Linkage and syntenic group analysis showed that the prealbumin gene {Ttr) is located between two syntenic groups on mouse chromosome 4, which corresponded to two syntenic groups present on human chromosomes 1 and

ISSN:1424-8581    

DOI:10.1159/000133405

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

Three male-specific PCR products of the sequences BC1.2, λ ES6.0, and BRY.l were used as probes for Southern blot analyses. Each of these probes generated a complex male-specific band pattern, which showed some quantitative variations among bulls. Hybridization patterns obtained with the BC1.2 and λ ES6.0 PCR products were interrelated. Chromosomal locations of these repeats were determined by hybridizing the tritiated PCR products in situ to male metaphase spreads. The BC1.2 and λ ES6.0 PCR products hybridized to Yp13→p12, whereas the BRY.l PCR product hybridized over the entire Y chromosome. In addition, the BC1.2 and λ ES6.0 PCR products hybridized to the distal half of the acrocentric Y chromosome of Bos indicus, indicating that the short arm of the B. taurus Y chromosome is homologous with the telomeric end of the B. indicus Y and supporting the notion that the Y chromosomes of these two species differ by a pericentric inve

ISSN:1424-8581    

DOI:10.1159/000133406

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

Somatic chromosome analysis of a subfertile Brown Swiss bull demonstrated a three-breakpoint translocation involving chromosomes 1,8, and 9 in G- and R-banded karyotypes. Based on standard bovine chromosome nomenclature, the translocation was defined as t(l;8;9)(q43;ql3;q26). Synaptonemal complex analysis of the chromosome aberration by electron microscopy revealed a hexavalent configuration in 52 of 53 pachytene cells. Twenty-seven cells (51 %) had a completely paired hexavalent configuration showing distinctly non-homologous pairings between normal and/or translocated chromosomes involved in the exchanges. Thirteen cells showed a hexavalent configuration with centrally unpaired chromosome segments but with completely paired terminal arms. In 13 cells (including one at zygotene) the translocation chromosomes formed an open hexavalent, and in one cell there were two completely paired trivalents. Thirty-two cells at diakinesis-MI demonstrated 28 configurations, including one large hexavalent. Testicular histology, testis size, and seminal characteristics were normal.

ISSN:1424-8581    

DOI:10.1159/000133407

出版商:S. Karger AG    

年代:1992

数据来源: Karger