ISSN:1424-8581    

DOI:10.1159/000134108

出版商:S. Karger AG    

年代:1995

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000134109

出版商:S. Karger AG    

年代:1995

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000134110

出版商:S. Karger AG    

年代:1995

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000134111

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Orientation of the Friedreich’s ataxia locus (FRDA) with respect to D9S15 and D9S5 has proved critical to the design of subsequent cloning strategies. The rarity of recombination events between FRDA and these markers, originally used to determine assignment to human chromosome region 9q13→q21.1 has necessitated the instigation of physical mapping studies to determine order and, hence, the precise location of the disease gene. Simultaneous fluorescence in situ hybridisation using cosmid clones located in close proximity to the ends of a 1.2-Mb yeast artificial chromosome clone extending into the FRDA candidate region provides physical evidence for the order of the marker loci to be cen-D9S202-D9S5-D9S15-qter. The possibility that a pericentric inversion, occurring naturally in ∼1 % of the normal population, may affect the order of markers within this region has been eliminated. Considered in association with the interpretation of a recombination event detected in a single affected individual, these data indicate that the FRDA locus is located proximal to

ISSN:1424-8581    

DOI:10.1159/000134112

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

XYsxr (sex reversal) mice carry a Y chromosome in which the chromatin (including Sry, the gene for testis determination) that normally resides on the short arm is duplicated and the second copy is relocated to the distal end of the long arm. Multicolor in situ hybridization to mitotic chromosomes of XYsxr males using probes for the telomere repeat sequence (TTAGGG)n and Sry shows that the rearranged chromatin is located distal to the telomeric signal. This suggests that the rearrangement arose from a recombination event involving the distal Y telomere sequences, i.e., within the telomere, a structure historically assumed to be incapable of participating in chromosome rearrangements.

ISSN:1424-8581    

DOI:10.1159/000134113

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Eight mouse gene loci (Atp1b2, Epo, Kit, Krt2, Mor1, Ren1, Pdgfb, and Wnt1) that contain unidentified microsatellites were selected to detect simple sequence-length polymorphisms on genomic DNAs from two laboratory strains (C57BL/6J and RF/J) and strains recently derived from the Mus musculus species complex (CAST/Ei, MOLF/Ei, CZECH II, and M. m. domesticus) and from M. spretus (SPRET/Ei). All microsatellite DNA sequences varied in size among some of the seven mouse strains tested. These new polymorphisms might be useful in the search for tumor suppressor genes involved in specific cancers.

ISSN:1424-8581    

DOI:10.1159/000134114

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

The genes coding for the insulin-like growth factor-1 receptor (IGF1R) and a porcine endothelium-derived 21-residue vasoconstrictor peptide (EDN) were localized in the pig by means of radioactive in situ hybridization. IGF1R was mapped to chromosome region 1q1.7→q2.1 and EDN to 7p1.3→p1.2. The results are discussed in relation to the position of their homologous loci in

ISSN:1424-8581    

DOI:10.1159/000134115

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Selachian chromosomes were investigated for the first time by C-, Ag- and RE (restriction endonuclease)-band-ing. A pair of NOR-bearing acrocentric chromosomes, as well as a third extra site, were demonstrated in two species of Torpedo. In situ digestion with restriction endonucleases revealed a peculiar arrangement of constitutive heterochromatin: in Torpedo ocellata the centromere never appeared C-banded, and was always digested by AluI, PstI, DdeI and HaeIII; in Torpedo marmorata, instead, heterochromatin was present in the centromere, and was not digested by the same enzymes. The occurrence of different types of centromeric heterochromatin suggests an involvement of highly repeated DNA fractions in the Robertsonian phenomena that occurred in chromosome rearrangements in the genus Torpedo.

ISSN:1424-8581    

DOI:10.1159/000134116

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

A number of related enzymes like glutathione S-transferases (GSTs) and fatty acid ethyl ester synthases (FAEESs) have been implicated in detoxification and drug resistance. The anionic class of GSTs, π, and closely related FAEES-III exhibit tissue-specific and developmentally regulated expression, and the former has been shown to be overex-pressed or amplified in a variety of tumors. The GSTPl gene has previously been cloned and cytogenetically localized to human 11q13 by in situ hybridization. Using a series of previously described radiation-reduced somatic cell hybrids, we have sublocahzed GSTP1 to 11q13. We isolated a genomic clone containing the entire GSTPl gene and sequenced it. Analysis of the 5’ region revealed 23 (TAAAA) tandem repeats interrupted by a single TA and TAA insertion. This repeat number differs among individuals. Eleven alleles in a mostly Caucasian sample were observed. This repeat has a polymorphism information content of 0.74. Linkage analysis of the Venezuelan reference pedigree places GSTP1 5 cM distal to PYGM and 4 cM proximal to FGF3 thereby providing a genetic marker half-way between these two loci. The sublocalization and genetic characterization of GSTPl facilitates linkage analysis of several disease genes mapped to this chromosome band as well as the correlation of genetic and physical markers in the regi

ISSN:1424-8581    

DOI:10.1159/000134117

出版商:S. Karger AG    

年代:1995

数据来源: Karger