ISSN:1424-8581    

DOI:10.1159/000134500

出版商:S. Karger AG    

年代:1997

数据来源: Karger

摘要:

At the dawn of human genetics Sir Archibald Garrod used alkaptonuria as a paradigm to demonstrate the applicability of the Mendelian laws to men and to develop the concept of inborn errors of metabolism. The human cDNA for homogentisate 1,2 dioxygenase was identified due to its homology to the corresponding mouse enzyme and was screened for mutations in alkaptonuric patients from Slovakia. Homozygous mutations were found in four unrelated families and their segregation with the disease was demonstrated. One of the mutations, observed in two families, leads to a frame-shift and thus is unlikely to produce functional protein. The data formally establish the homogentisate 1,2 dioxygenase gene (HGD) as the molecular cause of alkaptonuria and allow for the development of molecular carrier tests in populations at risk.

ISSN:1424-8581    

DOI:10.1159/000134501

出版商:S. Karger AG    

年代:1997

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000134502

出版商:S. Karger AG    

年代:1997

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000134503

出版商:S. Karger AG    

年代:1997

数据来源: Karger

摘要:

We have used fluorescence in situ hybridization to extended DNA fibers (fiber-FISH) to analyse the α-satellite and rDNA arrays on a human chromosome 22. The rDNA could be seen as a string of signals spanning about 430 kb. The bulk of the alphoid DNA was found in a single large array of about 2.6 Mb

ISSN:1424-8581    

DOI:10.1159/000134504

出版商:S. Karger AG    

年代:1997

数据来源: Karger

摘要:

The translocation t(3;8)(p21;q12) is the most common chromosome abnormality observed in pleomorphic adenomas of the salivary glands. In this paper we describe the physical mapping of the breakpoints in an adenoma with a variant t(3;8), viz., an ins(8;3)(q12;p21.3p14.1). Using sequence-tagged sites (STSs) corresponding to landmarks within a previously identified yeast artificial chromosome (YAC) spanning the breakpoint in adenomas with t(3;8), cosmids were isolated from a chromosome 8-specific cosmid library. The 8q12 insertion breakpoint was mapped by FISH to a 300-kb region flanked by MOS and a new STS, CH129. A cosmid within this region was shown to span the breakpoint. To test whether the recently identified FHIT gene, which maps to 3p14.2, was disrupted by the 3p rearrangement, we also isolated an FHIT YAC and mapped this YAC by FISH distal to the most proximal 3p breakpoint. In addition, RT-PCR analysis revealed only a normal-sized FHIT transcript, suggesting that FHIT is not affected by the 3;8-rearrangement.

ISSN:1424-8581    

DOI:10.1159/000134505

出版商:S. Karger AG    

年代:1997

数据来源: Karger

摘要:

To facilitate the identification of microsatellite genetic markers from a single swine chromosome, chromosome microisolation and microcloning have been used to generate a swine chromosome 6-specific DNA library. Ten copies of swine chromosome 6 were scraped from metaphase spreads, ligated to custom-prepared adaptors, and amplified by PCR. The purity of the amplified product was verified by fluorescent in situ hybridization. The utility of the chromosome painting probe for heterologous painting was demonstrated and confirmed that swine chromosome 6 is syntenic to human chromosomes p and 19q. A small insert genomic library of 1.39 × 106 clones was generated from the PCR-amplified chromosome 6 genomic DNA and screened for (GT)n microsatellite genetic markers. Nine (GT)n microsatellite markers were developed and genotyped on a Yorkshire × Meishan swine reference family. All nine markers genetically mapped to chromosome 6, confirming the purity of the microisolation method. The method used here should be adaptable to the microdissection of sub-chromosomal regions of not only the swine genome but also other livestock genome

ISSN:1424-8581    

DOI:10.1159/000134506

出版商:S. Karger AG    

年代:1997

数据来源: Karger

ISSN:1424-8581    

DOI:10.1159/000134507

出版商:S. Karger AG    

年代:1997

数据来源: Karger

摘要:

The structure of the Y chromosome was investigated by FISH and G banding in 3 cases of bovine XY females shown by PCR to lack the SRY gene. Although 2 different repeat-DNA sequences (BC1.2 and btDYZ-1) hybridized to the short arm of the Y chromosome in a normal bull, they hybridized to both arms of the Y chromosome in the XY females. In the Y chromosome from XY females, only the centromeric region was darkly stained by G banding, in comparison with dark staining on the long arm of a normal Y chromosome. From the results obtained, it seemed that the Y chromosome from the XY females was structurally abnormal, namely an isochromosome with an identical short arm. Our results also confirm that SRY is located on the long arm of the Y chromosome in bovine.

ISSN:1424-8581    

DOI:10.1159/000134508

出版商:S. Karger AG    

年代:1997

数据来源: Karger

摘要:

Tetranectin is a plasminogen-binding protein that is induced during the mineralization phase of osteogenesis. By screening a human chromosome 3 somatic cell hybrid mapping panel, we have localized the human tetranectin gene (TNA) to 3p22→p21.3, which is distinct from the loci of two human connective tissue disorders that map to the short arm of chromosome 3, MFS2 and LRS

ISSN:1424-8581    

DOI:10.1159/000134509

出版商:S. Karger AG    

年代:1997

数据来源: Karger