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Biomedical subjects

R Slim

Publications and source records attributed to R Slim.

At least 55 records · Page 3Linked to original sources
PubMed1994

Prenatal identification of an isochromosome for the short arm of the Y i(Yp), by cytogenetic and molecular analyses.

A case of 45,X/46,X,+mar mosaicism was detected in a male fetus (27 weeks' gestation) referred for karyotype analysis following the observation of a short femur at the ultrasound scan. Analysis of 12 Y-chromosome loci by fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR) demonstrated that the marker chromosome is of Y origin and corresponds to an authentic isochromosome for the short arm of the Y chromosome, i(Yp). The breakpoint on this marker is in YQ11.1 close to the centromere. The present report illustrates the importance of FISH and PCR techniques as a complement to cytogenetic methods for accurate identification and characterization of chromosome rearrangements in prenatal diagnosis.

Adult↗
PubMed1994

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.

The analysis of a de novo 8q12.2-q21.2 deletion led to the identification of a proposed previously undescribed contiguous gene syndrome consisting of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, hydrocephalus and trapeze aplasia. This is the first reported localization of the genes responsible for Duane syndrome and this dominant form of hydrocephalus. In contrast, we report a new localization for the gene responsible for BOR syndrome which is more telomeric to an initial placement. Linkage analysis of affected families consistently mapped the gene responsible for BOR and Branchio-Oto (BO) syndromes to within the deletion. Using new algorithms, a YAC contig was constructed and used to localize the breakpoint of another chromosomal rearrangement associated with BO syndrome to a 500 kb interval within the deletion. The 8q12.2-q21.2 deletion suggests that reduced dosage of the relevant genes is sufficient to cause Duane syndrome, BOR syndrome and this dominant form of hydrocephalus.

Base Sequence↗
PubMed1994

Assignments of 37 YAC clones to R-banded chromosomes by fluorescent in situ hybridization.

Fluorescent in situ hybridization was used to assign 37 yeast artificial chromosomes (YACs) from the CEPH (Centre d'Etude du Polymorphisme Humain) libraries to R-banded metaphases stained with propidium iodide. The use of the whole yeast DNA as probe, allows rapid mapping and characterization of YAC clones. Of 37 YAC clones, 11 were found cytogenetically chimeric (30%). The YAC clones reported in this study can be used to isolate and characterize targeted regions involved in genetic diseases and cancer breakpoints.

Cells, Cultured↗
PubMed1993

A cytokine receptor gene cluster in the X-Y pseudoautosomal region?

The receptors for interleukin-3 (IL-3), IL-5, and granulocyte-macrophage colony-stimulating factor (GM-CSF) are heterodimers comprised of ligand specific alpha chains and a common beta chain. The genes encoding the IL-5 receptor alpha chain and the common beta chain reside on chromosome 3 and 22 respectively, while the GM-CSF receptor alpha chain gene (CSF2RA) has been mapped to the pseudoautosomal region (PAR) of the sex chromosomes, which is a 2.6-Mb stretch of homologous sequence at the tips of the short arms within which a single obligatory recombination occurs during male meiosis. We have mapped the gene encoding the IL-3 receptor alpha chain (IL3RA) to the sex chromosomes by polymerase chain reaction (PCR) analysis of human-mouse or human-chinese hamster cell hybrids, and to Yp13.3 and Xp22.3 using fluorescence in situ hybridization. To explore the possibility that IL3RA is located within the pseudoautosomal region we screened the Centre d'Etude du Polymorphisme Humain (CEPH) pedigrees for an informative-restriction fragment-length polymorphism (RFLP) that showed male meiotic recombination. Two informative CEPH pedigrees were identified that displayed this phenomenon, confirming the psuedoautosomal location of IL3RA. Using long-range restriction mapping we have found that IL3RA maps to the same 190-kb restriction fragment as CSF2RA, suggesting that a cytokine receptor gene cluster may reside in the PAR.

Base Sequence↗
PubMed1993

A human pseudoautosomal gene encodes the ANT3 ADP/ATP translocase and escapes X-inactivation.

We report that the human ANT3 ADP/ATP translocase gene is a pseudoautosomal gene located proximal to the GM-CSF receptor alpha chain gene (CSF2RA). An ANT3-homologous locus, likely corresponding to a pseudogene, maps to chromosome 9. The ANT3 gene is transcribed from the centromere to the telomere and contains in its first intron a CpG island mapped 1300 kb from the telomere. This gene is transcribed from the Y chromosome and from the active and inactive X chromosomes. This gene thus escapes X-inactivation as predicted for genes belonging to the pseudoautosomal region.

Aneuploidy↗
PubMed1993

Construction of a yeast artificial chromosome contig spanning the pseudoautosomal region and isolation of 25 new sequence-tagged sites.

Thirty-one yeast artificial chromosomes (YACs) from the human pseudoautosomal region were identified by a combination of sequence-tagged site (STS) screenings and colony hybridizations, using a subtelomeric interspersed repetitive element mapping predominantly to the pseudoautosomal region. Twenty-five new pseudoautosomal STSs were generated, of which 4 detected restriction fragment length polymorphisms. A total of 33 STSs were used to assemble the 31 YACs into a single contiguous set of overlapping DNA fragments spanning at least 2.3 megabases of the pseudoautosomal region. In addition, four pseudoautosomal genes including hydroxyindole O-methyltransferase have been positioned on this set of fragments.

Acetylserotonin O-Methyltransferase↗
PubMed1993

Rearrangements between irradiated chromosomes in three-species radiation hybrid cell lines revealed by two-color in situ hybridization.

A human-hamster hybrid cell line containing only the human X chromosome (GM06318B) was exposed to 6,000-7,000 rad of X-rays and fused with a mouse cell line (CL1D,TK-). Three radiation hybrids, LXKC40, LXKC50, and LXKC56, were selected among 39 independent clones containing human material. Two-color in situ hybridization with total genomic DNA probes (cot1 human DNA and hamster total genomic DNA) was used to analyse the irradiated chromosome rearrangements. With this three-species model system (human-hamster-mouse) and the chromosome painting process it was possible to determine the origin of each chromosomal fragment in metaphase and interphase. The results obtained indicate preferential rearrangement between irradiated human and hamster chromosomes. Whole, apparently intact hamster chromosomes were observed in all the mitoses. We suggest that these chromosomes could be neoformated from random fragments after irradiation. Hamster and human "minichromosomes" were also detected. While the integration of human material into the mouse genome was exceptional, the integration of hamster material into mouse chromosomes was more frequent. During interphase the irradiated chromosome domains were often at the periphery of the nucleus. Irradiated material protruded at the periphery of the nuclei. Micronuclei containing hamster material were detected in the vicinity of these protrusions.

Animals↗
PubMed1993

[Evaluation of neonatal prognosis using Doppler velocimeter in cases of a high risk fetus].

The authors describe the main characteristics of the Doppler method in the early diagnosis of chronic fetal distress, and report their personal results in the study of 51 high risk pregnancies. In their study the fetal doppler ultrasound findings were correlated with birth weight related to gestational age, and neonatal morbidity. The parameters established from the doppler ultrasound assessment were the placenta resistance (calculated from the formula of Pourcelot: R = S-D/S applied to the umbilical artery) and the cerebro-placental index, Rp/Rc, Rc being the index of cerebral arterial resistance. The diagnosis performance of the method appeared very good: the Rp index was found to be highly specific for hypotrophy (85,7%) and for neonatal morbidity (90%), the RCP index adding its own good sensitivity (85% for hypotrophy and 83,3% for neonatal morbidity). The authors conclude upon the interest to study simultaneously the fetal umbilical and cerebral arterial circulations. The pathological significance of the two indexes appears different so that they are to be complementary in the evaluation of fetal distress.

Female↗
PubMed1993

Localization of 15 cosmids on human chromosome 22 by fluorescence in situ hybridization.

Fluorescence in situ hybridization has been used in a cytogenetic analysis to map 15 cosmids on human chromosome 22. Thirteen cosmids were localized on the long arm of chromosome 22 (22q) while two other probes displayed a hybridization signal on 22p and the short arm of the acrocentric chromosomes of groups D and G. The regional assignment of these new chromosome markers will improve the mapping of chromosome 22; they can be used to detect numerical and structural aberrations of this chromosome involved in numerous pathologies.

Chromosome Mapping↗
PubMed1992

The neurofibromatosis 1 gene transcripts expressed in peripheral nerve and neurofibromas bear the additional exon located in the GAP domain.

A second NF1 messenger differing in the GAP domain was recently described. This type II transcript contains an internal additional sequence consisting of an open reading frame, in phase with the preceding and the following sequences and predicts a 21 amino acid addition in the catalytic domain of NF1 protein. In this report we present analysis of the two forms of NF1 transcripts in several normal human tissues and in primary neurofibromatosis tumors. Our results indicate (i) that the type II NF1 messenger displaying the additional exon is very widely expressed in all the normal adult tissues tested, (ii) that it is the form of NF1 messenger expressed in peripheral nerve and neurofibromas, and (iii) that the additional sequence could encode for a peptide related to a nucleoside triphosphatase.

Amino Acid Sequence↗
PubMed1991

The human placental protein 14 (PP14) gene is localized on chromosome 9q34.

PP14 protein (placental protein 14) is abundantly secreted by the human endometrium under the influence of progesterone. Human PP14 is homologous to beta-lactoglobulin, the main component of equine, bovine, and ovine milk whey. A genomic PP14 probe (PP14G1) was used for the chromosome assignment of the PP14 gene. Somatic hybrid cells enabled PP14G1 to be assigned to chromosome 9. In situ hybridization further refined this assignment to 9q34. The localization of the PP14 gene in the region of the ABO locus is consistent with the linkage described in bovines between beta-lactoglobulin and the J blood group (homologous to the human ABO group).

Animals↗
PubMed1991

Relative order determination of four Yp cosmids on metaphase and interphase chromosomes by two-color competitive in situ hybridization.

Two-color competitive in situ hybridization was used to cytogenetically order four Yp cosmid probes, located in the pseudo-autosomal and TDF regions. The probes were hybridized by pairs to metaphase and interphase chromosomes. On metaphase chromosomes, determination of order between sequences separated by 3 Mb from each other was possible on a statistical basis, whereas the relative position of sequences 0.6 Mb apart could not be determined. On interphase chromosomes the complete order between sequences separated by 0.6-6 Mb was obtained rapidly by measuring the distances between two cosmid spots of every cosmid pair used in 28 to 60 nuclei. Results demonstrate the potential power of fluorescent in situ hybridization at interphase for high resolution cosmid mapping.

Binding, Competitive↗
PubMed1985

[Echographic aspects of fused kidneys. Apropos of 2 cases].

Coalescent kidney is a rare variety of fused kidneys, clinical manifestations observed with the greatest frequency being a more or less painful abdominal mass, digestive disturbances and a complicating infection, calculus, renal failure or hematuria. Straight abdominal films (SAF), ultrasound tomography, SAF after colon insufflation and IVU can usually establish the diagnosis. Results of ultrasound imaging of this rare variety of ectopic kidney have apparently not been published. Apart from any complicating factor, the coalescent kidney corresponds to a discoid shaped subumbilical prespinal mass of oblong section. It appears as two highly echogenic central zones encircled by a less dense zone. No separation exists between the right and left portion, and furthermore a kidney cannot be identified in either lumbar fossa. These findings are useful for identification of a retroperitoneal mass, ultrasound imaging being of importance when IVU supplies insufficient data.

Abnormalities, Multiple↗