ISSN:1424-8581    

DOI:10.1159/000134087

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Recently, a 500-kDa protein, with homology to the rat Gp330 glycoprotein, was found to be expressed on the surface of human parathyroid, placental cytotrophoblast, and renal proximal tubule cells. The protein has been implicated to function as a sensor of extracellular calcium on parathyroid and placental cytotrophoblast cells. We report here in situ hybridization mapping of the corresponding gene, designated as low-density lipoprotein receptor related protein-2 and symbolized as LRP2, to human chromosome region 2q31→q32.1 and porcine chromosome region 15q22→q24. The results are discussed in a comparative mapping cont

ISSN:1424-8581    

DOI:10.1159/000134088

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

The enzyme 11β-hydroxysteroid dehydrogenase type 2(11βHSD2) is an NAD-dependent, high-affinity isoform that potently inactivates glucocorticoids. In the present study we have used fluorescence in situ hybridization and an 11βHSD2 cDNA isolated from human kidney as probe to localize the gene encoding 11βHSD2. The gene, which has been given the symbol HSDl 1B2, maps to human chromosome band 16

ISSN:1424-8581    

DOI:10.1159/000134089

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Meiotic segregation of the X and Y chromosomes and chromosome 1 was analyzed by three-color fluorescence in situ hybridization (FISH) in 94,575 human interphase spermatozoa from four control subjects. More than 99% of the sperm cells were labeled. The proportions of X- and Y-bearing sperm were estimated to be 49.83% and 48.30%, respectively. The disomy rates were 0.04%, 0.009%, and 0.20% for the X and Y chromosomes and chromosome 1, respectively. Hyperhaploidy with an extra gonosome was found in 0.34% of spermatozoa, due to nondisjunction during meiosis I. The frequency of diploidy was 0.11 % at meiosis I and 0.036% at meiosis II. Cohybridization of one autosomal and two gonosomal probes, in three-color FISH in interphase spermatozoa, seems to accurately discriminate diploidies from disomies, as well as the meiotic origin of gonosomal aneuploidies in sperm cells.

ISSN:1424-8581    

DOI:10.1159/000134090

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Recent molecular and cytogenetic studies on uterine leiomyoma cell lines with aberrations in 12q14→q15 have shown that the chromosome 12 breakpoints seem to cluster in a 260-kb region designated as ULCR 12 (uterine leiomyoma cluster region of chromosome 12 breakpoints). Here we report the results of fluorescent in situ hybridization (FISH) studies using a molecular probe composed of five different cosmids that cover a 700-kb region encompassing ULCR 12. The FISH studies were performed on primary tumor specimens of uterine leiomyomas. With the exception of one case, our results demonstrated that the cosmid pool bridges the breakpoint region 12q14→q15 in primary tumors as well. In the remaining case, signal was localized distal to the breakpoint, indicating a breakpoint outside the region covered by the cosmid pool or a deletion in the region surrounding the chromosome 12 breakpoint. Individual cosmid probes from the pool were then used to narrow the localization of the breakpoint region in both the primary leiomyomas and established cell lines. The results showed that the breakpoints involving 12q14→q15 in the primary uterine leiomyomas and derived cell lines are clustered in a single 170-kb breakpoint region within ULCR 12. For three of the cell lines studied, the breakpoints map within a 40-kb segment covered by one c

ISSN:1424-8581    

DOI:10.1159/000134091

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Ten single-copy DNA probes derived from a human chromosome 3-specific genomic library were mapped by in situ hybridization to subregions of this chromosome. Seven sequences were assigned to subregions of 3q and two sequences were assigned to subregions of 3p. One single-copy DNA probe was assigned to the centromeric region of chromosome 3 by Southern blot analysis of DNA isolated from a somatic cell hybrid containing centromeric sequences of this chromosome. These DNA clones mapped by in situ hybridization can provide useful landmarks for mapping various disease loci on chromosome 3. They may also be useful for the generation of physical and genetic maps.

ISSN:1424-8581    

DOI:10.1159/000134092

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Loss of one copy of chromosome 22 is the most prevalent chromosomal change in meningioma, indicative of a tumor suppressor on chromosome 22. Meningioma retaining both copies of chromosome 22 could possibly be explained by isodisomy for a meningioma suppressor gene. To investigate whether the chromosomal situation in meningioma is consistent with this hypothesis, we studied 53 cases, using polymorphic probes localized on chromosome 22. Loss of one copy of chromosome 22 was found in 14 cases when polymorphic DNA markers were used. Thirty-nine meningiomas studied by karyotyping and molecular probes retained both copies of chromosome 22. The majority of cases (30/39, or 77%) displayed heterozygous banding patterns, indicating the presence of heterologous copies of chromosome 22. Hence, our data provide no evidence for duplication of one parental homolog as a general mechanism in diploid meningioma.

ISSN:1424-8581    

DOI:10.1159/000134093

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

We present the sequences of a set of oligonucleotides that, when used as primers for PRimed IN Situ (PRINS) labeling, are diagnostic for repetitive sequences in specific human chromosomes. Combined, they enable identification of all human chromosomes except 6, 19, and 20. However, as is also the case with cloned centromeric hybridization probes, chromosomes 14 and 22 are stained together. Along with the sequences of these oligonucleotides we offer a simple, universal procedure for their use. We also present an oligonucleotide that binds to both strands of α-satellite DNA, making it possible to specifically amplify α-satellite DNA by PCR with this one oligonucleotide alone as primer. The origin of the α-satellite DNA in the starting material (whether somatic cell hybrids, flow-sorted chromosomes, or microdissected material) can then be determined on test metaphase spreads by in situ hybridization or PRINS with the PCR produ

ISSN:1424-8581    

DOI:10.1159/000134094

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Using biotinylated genomic and cDNA probes with FISH analysis, the gene for the reduced folate transporter in Chinese hamster ovary cells (SLC19A1) has been localized to chromosome 1 and Z1 at the position q2→q

ISSN:1424-8581    

DOI:10.1159/000134095

出版商:S. Karger AG    

年代:1995

数据来源: Karger

摘要:

Twenty-two X-linked cosmid clones have been localised by fluorescence in situ hybridisation (FISH). Twelve map to the long arm of the X chromosome and 10 to the short arm. Seven of the latter cosmids and an additional one were mapped by two colour FISH relative to reference markers DXS7 and DXS426 in proximal Xp. Finer localisation of one of the cosmids, namely HX43 was achieved by isolation of a microsatellite followed by genetic mapping with respect to reference markers in the region.

ISSN:1424-8581    

DOI:10.1159/000134096

出版商:S. Karger AG    

年代:1995

数据来源: Karger