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Biomedical subjects

R Berger

Publications and source records attributed to R Berger.

At least 361 records · Page 20Linked to original sources
PubMed1994

Detection of monosomy 7 and trisomies 8 and 11 in myelodysplastic disorders by interphase fluorescent in situ hybridization. Comparison with acute non-lymphocytic leukemias.

Cells from 50 patients with myelodysplastic syndrome (MDS) and 20 patients with acute non-lymphoblastic leukemia (ANLL) were studied by fluorescent in situ hybridization (FISH) using alphoid biotinylated probes to detect numerical chromosome 7, 8 and 11 aberrations in interphase nuclei. FISH data were compared with cytogenetic results. Both methods were in agreement in 25/50 MDS and 20/20 ANLL cases. Trisomy 11 was found neither by cytogenetic study nor by FISH. In 11 MDS patients the percentage of abnormal cells was higher by FISH than by classical cytogenetic analysis. FISH revealed monosomy 7 which was undetectable by karyotypic study in 5-22% cells from 15 MDS patients. It also allowed the identification of two small markers and a ring chromosome in two MDS cases. FISH hence appears to be useful for the detection of minor abnormal clones and is a convenient complement to conventional cytogenetic analysis in the study of MDS.

Aged↗
PubMed1993

t(8;21) prior to acute leukemia.

A t(8;21)(q22;q22) without blood and bone marrow invasion by immature myeloid precursor cells occurred in a patient previously treated for polycythemia vera. The presence of a molecular rearrangement confirmed that the chromosomal abnormality was identical to that observed in acute leukemia with t(8;21). This case shows that the translocation, t(8;21), may occur in myelodysplasia and suggests that it can precede the appearance of overt leukemia.

Chromosomes, Human, Pair 21↗
PubMed1993

5q- anomaly preceding acute myeloblastic leukemia with 53 chromosomes without chromosome 5 abnormality.

Partial deletion of the long arm of chromosome 5 (5q-) was found in a patient with a myeloid disorder. After treatment, hematologic parameters became normal, but acute myeloblastic leukemia occurred after 58 months. At that time, cytogenetic studies showed the presence of an abnormal clone with 53 chromosomes and without 5q-. This exceptional case suggests that the 5q- abnormality may precede the occurrence of an acute leukemia in favoring the appearance of unrelated malignant clones.

Anemia↗
PubMed1993

Molecular analysis of a variant 18;22 translocation in a case of lymphocytic lymphoma.

We previously reported a 5' rearrangement of the BCL2 locus in a t(18;22) variant translocation found in a lymphocytic lymphoma. Primary structure analysis of both rearranged chromosomes confirmed the localization of the breakpoint in the so-called vcr region (for variant cluster region) that encompasses Z-DNA stretches 5' of the BCL2 locus, and in between J lambda 1 and C lambda 1 segments on the IGL locus. A 1,027 nucleotide segment from chromosome 22 was repeated on both derivative chromosomes 18q+ and 22q-. This segment contained an octanucleotide that was also present in the normal chromosome 18 close to the breakpoint. As a consequence of the translocation, a normal-sized BCL2 transcript was overexpressed in tumor cells.

Base Sequence↗
PubMed1993

Chromosome painting in acute monocytic leukemia.

An Alu polymerase chain reaction (PCR) probe specific for chromosome 11 prepared from the somatic cell hybrid J1 was used to analyze karyotypes of eight patients with acute monocytic leukemia (AML-M5). Chromosome painting confirmed the t(9;11) in one patient and a der(1)t(1;6)t(6;11) in another and allowed the identification of a complex rearrangement involving chromosomes 9, 11, and 17, previously classified as del(11)(q23), in a third patient. An analysis of five patients with AML-M5 and a normal karyotype did not detect abnormalities of chromosome 11. The usefulness of chromosome painting combined with in situ hybridization with probes previously located on particular chromosomes is emphasized.

Adult↗
PubMed1993

Rearrangements of the RARA and PML genes in a cytogenetic variant of acute promyelocytic leukemia.

Acute promyelocytic leukemia (APL) is usually associated with the translocation t(15;17)(q22;q12-21), which disrupts the retinoic acid receptor alpha (RARA) gene on chromosome 17 and the PML gene on chromosome 15. We report a patient with typical APL without the common t(15;17). Cytogenetic studies demonstrated a normal appearance of chromosomes 15, while a small marker seemed to be an i(17q-). Molecular analysis showed RARA and PML rearrangements, suggesting that the chromosome abnormality corresponded to a variant translocation.

Adult↗
PubMed1993

Breakpoint clusters of the PML gene in acute promyelocytic leukemia: primary structure of the reciprocal products of the PML-RARA gene in a patient with t(15;17).

DNA studies of the translocation t(15;17) in acute promyelocytic leukemia (APL) have shown that the retinoic acid receptor alpha (RARA) gene on chromosome 17 is juxtaposed to the promyelocytic leukemia (PML) gene on chromosome 15. The PML breakpoints have been mapped to 3 clusters: bcr1, bcr2, and bcr3. We have examined the PML breakpoint distribution in a series of 33 Chinese patients with APL. Twenty-two patients fell within bcr1, 2 within bcr2, and 9 within bcr3. The primary structure of the reciprocal chromosome translocation joints of one patient and that of their normal counterparts have been determined and compared to those of 2 previously reported cases. These studies revealed possible topoisomerase II cleavage sites close to the breakpoints and suggested implications of DNA attachment sites to nuclear matrix. We propose that these features are relevant to the process of illegitimate recombination generating the translocation.

Base Sequence↗
PubMed1993

In situ hybridization to interphase nuclei in acute leukemia.

Numerical chromosome abnormalities were studied in 17 acute lymphoblastic leukemias and one hyperdiploid acute myeloblastic leukemia by fluorescence in situ hybridization (FISH) using YAC clones specific to chromosomes 21 and 6. The results agreed well with cytogenetic findings. Hyperdiploid leukemias with more than 50 chromosomes usually had 4 copies of chromosome 21 and three of chromosome 6, while diploid and pseudodiploid cases were confirmed to have two copies of the two chromosomes. Interesting discrepancies were also observed. In one patient, trisomy 6 was detected by FISH but not by cytogenetics because of the probable inclusion of a chromosome 6 segment within a marker chromosome. The percentages of nuclei with 3 or 4 spots (chromosome 21) and three spots (chromosome 6) in hyperdiploid cells were significantly different in some patients, whereas they might be identical from cytogenetic data.

Adolescent↗
PubMed1993

Experimental design of 31P MRS assessment of human forearm muscle function: restrictions imposed by functional anatomy.

The restrictions imposed by the functional anatomy of the finger flexor muscles on the experimental design of 31P MRS assessment of human forearm muscle function employing surface coil localization and voluntary exercise were investigated. It was found that 31P MRS metabolic data of finger flexor muscle should be correlated with mechanical data of combined flexion of only the ring and little fingers, rather than all four fingers as has been commonly the case in previously reported studies.

Adenosine Triphosphate↗
PubMed1993

The human interleukin-1 receptor antagonist (IL1RN) gene is located in the chromosome 2q14 region.

The gene for human interleukin-1 receptor antagonist (IL1RN) has been assigned to chromosome 2 on the basis of Southern blot analysis of a series of human-Chinese hamster cell hybrids. Using a yeast artificial chromosome containing the IL1RN gene as a probe, the human IL1RN gene was localized to the long arm of chromosome 2 at band 2q14.2 by fluorescence in situ hybridization. This site is near the positions of genes for human IL-1 alpha, IL-1 beta, and types I and II IL-1 receptors, as reported by other laboratories.

Animals↗
PubMed1993

The chromosomal localization of the human follicle-stimulating hormone receptor gene (FSHR) on 2p21-p16 is similar to that of the luteinizing hormone receptor gene.

Two cDNA probes (5' and 3' region) corresponding to the human follicle-stimulating hormone receptor gene (FSHR) were used for chromosomal localization by in situ hybridization. The localization obtained on chromosome 2p21-p16 is similar to that of the luteinizing hormone/choriogonadotropin (LH/CG) receptor gene.

Chromosome Mapping↗
PubMed1993

D21S418E identifies a cAMP-regulated gene located on chromosome 21q22.3 that is expressed in placental syncytiotrophoblast and choriocarcinoma cells.

A partial cDNA (D21S418E) whose nucleotide sequence has no significant homologies with known mammalian DNA sequences was isolated from a human placental library. The cDNA hybridized with a 10-kb transcript present in term placenta. Messages of 10 and 7.5 kb were induced in BeWo and JEG-3 choriocarcinoma cells by treatment with 8-Br-cAMP. The mRNA was not detected in human brain, liver, lung, kidney, pancreas, heart, skeletal muscle, or myometrium. The D21S418E locus was assigned to a 3.5-Mb region of chromosome 21q22.3.

8-Bromo Cyclic Adenosine Monophosphate↗
PubMed1993

Chromosomal localization of 9 KOX zinc finger genes: physical linkages suggest clustering of KOX genes on chromosomes 12, 16, and 19.

Nine KOX zinc finger genes were localized on four human chromosomes by in situ hybridization of cDNA probes to metaphase chromosomes. KOX1 (ZNF10), KOX11 (ZNF18), and KOX12 (ZNF19) were mapped to chromosome bands 12q24.33, 17p13-p12, and 16q22-q23, respectively. Six other KOX genes were localized on chromosome 19: KOX6 (ZNF14) and KOX13 (ZNF20) to 19p13.3-p13.2, KOX5 (ZNF13) and KOX22 (ZNF27) to 19q13.2-qter, and KOX24 (ZNF28) and KOX28 (ZNF30) to 19q13.4. Pulsed field gel electrophoresis experiments showed that the pairs of KOX genes found on the chromosome bands 12q24.33, 16q22-q23, 19p13.3-p13.2, or 19q13.3-qter lie within 200-300 kb DNA fragments. This suggests the existence of KOX gene clusters on these chromosomal bands.

Chromosome Mapping↗
PubMed1993

Clinical features and diagnostic approach in type I tyrosinaemia in an infant with cytomegaly virus infection and bacterial sepsis.

A severely ill 2-month-old female infant was admitted with meningitis and septicaemia caused by Streptococcus pneumoniae. The patient, who also had an acute cytomegalovirus (CMV) infection, revealed the typical clinical and biochemical characteristics of type I tyrosinaemia (TIT). Clinical evidence of severe hepatocellular damage was shown, but urinary succinylacetone was not detected. The diagnosis of TIT was finally confirmed by decreased activity of fumarylacetoacetase (FAA) in skin fibroblasts from the patient and both parents. Following dietary treatment and after overcoming the bacterial and viral infection, the patient's liver function improved.

Acute Disease↗