ISSN:1424-8581    

DOI:10.1159/000131680

出版商:S. Karger AG    

年代:1982

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000131681

出版商:S. Karger AG    

年代:1982

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000131682

出版商:S. Karger AG    

年代:1982

数据来源: Karger

摘要:

Unbalanced chromosome aberrations detected by routine chromosome diagnostic services can be used for gene mapping by gene dosage. This procedure, once discredited by early observations in Down’s syndrome, has now provided some of the most precise intrachromosomal gene localizations known and these are reviewed. Cytogeneticists have an obligation to see that every opportunity is taken to obtain mapping information from suitable cases. Interpretation of cytogenetic findings may be improved by application of appropriate gene dosage studies, and examples are described in which a diagnosis was made possible by such studies. Cytogeneticists may also contribute to human gene mapping by application of the technique of in situ molecular hybridization. The localization of the immunoglobulin kappa light chain genes (IGKV) to the short arm of chromosome 2 reported at this workshop provides the first example of the localization of an unassigned, unique DNA gene sequence by this method. Combined with the use of chromosomal translocations, resolution of assignments to chromosomal sub-bands is possible, and, as suitable DNA clones become available, the technique should have wide applicability in human gene mapping.

ISSN:1424-8581    

DOI:10.1159/000131684

出版商:S. Karger AG    

年代:1982

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000131685

出版商:S. Karger AG    

年代:1982

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000131686

出版商:S. Karger AG    

年代:1982

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000131687

出版商:S. Karger AG    

年代:1982

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000131688

出版商:S. Karger AG    

年代:1982

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000131689

出版商:S. Karger AG    

年代:1982

数据来源: Karger

摘要:

A series of 18 Chinese hamster × human somatic cell hybrid subclones segregating human chromosomes were analyzed by two-dimensional gel electrophoresis to determine the chromosomal location of the human genes responsible for the expression of specific proteins. Two independent methods, side by side comparison and double label autoradiography-fluorography, were used to identify the human proteins that were unambiguously resolved from those of the Chinese hamster (CH). Of the 83 human spots resolved, 22 were determined to be associated with nine specific chromosomes or chromosome regions by correlation with quantitative cytogenetic analysis of the hybrid clones. An additional five spots were associated with three different chromosomes that had identical patterns of segregation. A total of 12 resolvable polypeptides of apparently human origin were present in all 18 hybrid subclones and may be coded for by one of the nine human autosomes that were also consistently present. Future investigations using a variety of available methods to determine the identity of the polypeptide spots will permit the mapping of genes for specific enzymes and for other classes of proteins that are not detectable by the commonly used zymogram methods.

ISSN:1424-8581    

DOI:10.1159/000131690

出版商:S. Karger AG    

年代:1982

数据来源: Karger