ISSN:1424-8581    

DOI:10.1159/000133508

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

Repetitive DNA sequences have been implicated in the origin of several disease phenotypes, including fragile X syndrome, myotonic dystrophy, and spinal bulbar atrophy. In addition, complex family of chromosome 16-specific low-abundance repetitive (CH16LAR) DNA sequences have been mapped by fluorescence in situ hybridization to regions of chromosome a 16 that undergo breakage/rearrangement in acute nonlymphocytic leukemia (ANLL) cells. It has been hypothesized that these repetitive sequences are causally related to the chromosome rearrangements found in ANLL. Here, we further refine the mapping of CHI 6LAR sequences with respect to the ANLL inversion breakpoints, using a panel of somatic cell hybrids containing 51 different chromosome 16 breakpoints. These studies indicate that CH16LAR sequences at 16p13 are in close proximity to the ANLL short-arm breakpoint region. However, the region containing the highest density of CH16LAR sequences on the long arm appears to be distal to the region where the ANLL long-arm breakpoint has been mapped. These studies further show that CHI 6LAR sequences map in close proximity to FRA16D and FRA16A.

ISSN:1424-8581    

DOI:10.1159/000133509

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

A cytogenetically detectable deletion, del(10) (q11.2→q21.2), was observed in a patient with total colonic aganglionosis with small bowel involvement (TCSA), a variant of Hirschsprung disease (HSCR). A similar deletion is present in another TCSA patient (S.M. Huson, personal communication). To reveal cytogenetically undetectable deletions of chromosome 10 in further patients, we developed a strategy for mapping chromosome 10 DNA markers with respect to the observed deletions. To this end, the two chromosome 10 homologs (deleted and normal) were segregated in two distinct somatic cell hybrids obtained after fusion of the patient’s fibroblasts with a Chinese hamster ovary cell line (YH21). Hybrid cells containing chromosome 10 were selected for the expression of the gene coding for the β subunit of the fibronectin receptor (FNRB), which maps to lOpl 1.2, using a monoclonal antibody against FNRB. Hybrid 185.0 contains the deleted chromosome, whereas hybrid 179.Q contains the nondeleted one. Southern blot and PCR analysis of DNA from these two hybrids mapped the markers RBP3H4, RET, D10S15, D10S5, D10S22, and D10S88 inside the deletion and D10S170, CDC2, EGR2, and D10S19 outside the deletion. MEN2A and MEN2B have recently been mapped within the centromeric region closely linked to RBP3 and D10S15 (which are located inside the deletion) and cosegregate with HSCR in at least two different pedigrees. Since HSCR, MEN2A, and MEN2B represent defects of neural crest cell development, we hypothesize that they originate from mutations in different genes clustered in the centromeric region of

ISSN:1424-8581    

DOI:10.1159/000133510

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

The Rowett nude gene (RONU) has been mapped on rat chromosome (Chr) 10 by linkage analysis using (ACI × F344/N-RONU/RONU)F1 × F344/N-RONU/RONU backcrossprogeny. The gene order on the chromosome was RR92 -(16.1 cM) – RR24 – (17.9 cM) – MYHSE (myosin heavy chain, embryonic) – (1.0 cM) – SYB2 (synaptobrevin 2) – (1.0 cM) -SHBG (sex hormone-binding globulin) – (4.0 cM) – RONU (Rowett nude) – (29.0 cM) – AEP (anion exchange protein), PPY (pancreatic polypeptide) – (3.0 cM) – ACE (angiotensin I converting enzyme), GH (growth hormone). The RONU locus was localized to 10q24→q32 by fluorescence in situ hybridization of the closely linked SYB2 and loosely linked GH loci on the opposite side. Conserved linkage of homologous loci mapped to rat Chr 10 and mouse Chr 11 supports the hypothesis that the RONU locus is a rat homolog o

ISSN:1424-8581    

DOI:10.1159/000133511

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

Southern blot analysis of genomic DNA and gene-cloning experiments have recently shown that the human ZP3 gene is not a single-copy gene. The human genome harbors sequences encoding a protein of 424 amino acids and, in addition, a polymorphic locus with the potential to give rise to a probably nonfunctional polypeptide of 372 residues. In this report it is shown, by screening of a panel of human × hamster hybrid cell lines, that both the ZP3 and ZP3P loci are located on human chromosome 7

ISSN:1424-8581    

DOI:10.1159/000133512

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

UDP glucuronosyltransferases (UGTs) comprise a multigene family of drug-metabolizing enzymes. The subfamily of UGTs that conjugate bilirubin and phenolic compounds with glucuronic acid has been termed UGT1A1. In man, UGTIAI isoforms are encoded by a single gene, UGT1A1. Protein isoforms encoded by UGT1A1 originate by alternative splicing. In the present study, we used the cDNA of UGT1A1*4, a bilirubin-conjugating isoform, to localize the UGT1A1 locus in the human genome. The UGT1A1 gene was assigned by in situ hybridization to chromosome region 2q37.

ISSN:1424-8581    

DOI:10.1159/000133513

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

Analysis of F2 intercross progeny of inbred F344/N × LEW/N rats led to the assignment of 10 polymorphic PCR-typable markers to rat chromosome 2. The markers form a single linkage group covering 47.9 cM with the following order: D2N1R – D2N28 – FGG (γ fibrinogen) – PKLR (liver and RBC pyruvate kinase) – ATP1A1 (the α-1 polypeptide of Na+/K+ transporting ATPase) – HSD3B (hydroxy-δ-5-steroid dehydrogenase) – D2N2R – D2N91 – CAMKI (calmodulin-dependent protein kinase II) – D2N35. All but two of the markers (D2N1R and D2N2R) were detected using specific PCR primers flanking dinucleotide repeats. Sequences with dinucleotide repeats associated with five genes (FGG, PKLR, ATP1A1, HSD3B, and CAMKI) were identified in GenBank, and primers were designed to flank these repeats. The PCR primer pairs for three anonymous markers (D2N28, D2N91, and D2N35) were identified by sequencing cloned LEW/N rat genomic DNA containing (CA)n • (GT)n repeats. D2N1R and D2N2R were identified by PCR amplification of genomic DNA with single, nonspecific 10-base oligonucleotide primers. All of the markers were codominant except for D2N1R, D2N2R, and CAMKI, which only amplified from F344/N homozygous and heterozygous rat DNA. The seven codominant markers were highly polymorphic in 10 other inbred rat strains (SHR/N, WKY/N, MNR/N, MR/N, LOU/MN, BN/SsN, BUF/N, WBBl/N, WBB2/N, and ACI/N), suggesting that they will be useful for general mapping studies among these strains. Comparative gene mapping analysis indicated that a portion of the mapped region of rat chromosome 2 exhibits synteny conservation with regions of human chromosome 1

ISSN:1424-8581    

DOI:10.1159/000133514

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

Recently, we have presented a new technique for immunophenotyping cells that have numerical chromosome aberrations. We referred to this method as “Fluorescence-Immunophenotyping and Interphase Cytogenetics as a Tool for Investigation of Neoplasms” (FICTION). We present here an advanced FICTION method with three-color staining and improved sensitiv

ISSN:1424-8581    

DOI:10.1159/000133515

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

A method is described for making in situ hybridization strand specific. Through the use of a synthetic DNA probe of a repetitive sequence in the centromeric region of chromosome 18, it is shown that the repeats exist in a head-to-tail tandem array. The method should be useful for studies of the molecular organization and mapping of chromosomes.

ISSN:1424-8581    

DOI:10.1159/000133516

出版商:S. Karger AG    

年代:1993

数据来源: Karger

摘要:

The ribosomal RNA genes (rDNA) have been mapped by fluorescent in situ hybridization (FISH) using four rDNA probes (rDNA/FISH) to Atlantic salmon chromosomes. Signals appeared over the whole heterochromatic chromosome arm displaying the secondary constriction and satellites. The size polymorphism of this short arm, revealed by C-banding, was confirmed by rDNA/FISH, supporting large interindividual differences in the number of rDNA copies. Conventional techniques for the detection of nucleolar organizer regions are discussed, and their results are compared with those of rDNA/FISH.

ISSN:1424-8581    

DOI:10.1159/000133517

出版商:S. Karger AG    

年代:1993

数据来源: Karger