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I Klisak

Publications and source records attributed to I Klisak.

At least 73 records · Page 4Linked to original sources
PubMed1987

Multiple molecular abnormalities in Ph1 chromosome positive acute lymphoblastic leukaemia.

The Ph1 chromosome is present in 95% of patients with chronic myelogenous leukaemia (CML). The Ph1 chromosome also occurs in 5-25% of children and adults with acute lymphoblastic leukaemia (ALL). This observation raises questions as to whether these diseases are similar or identical. In patients with CML the c-abl and bcr genes are translocated and abnormally expressed. We studied molecular events related to bcr and c-abl in five patients with ALL to determine its relationship to CML. Four had the Ph1 chromosome; the fifth a probable Ph1 chromosome. c-abl and bcr abnormalities identical to CML were detected in four suggesting a common molecular basis. One patient with the Ph1 chromosome and c-abl translocation lacked these molecular changes but had abnormal c-abl gene transcription apparently unrelated to bcr. These data suggest that Ph1 chromosome positive ALL is heterogeneous; in some patients the molecular abnormality is identical to CML; in others c-abl is likewise involved but via a different mechanism.

Adolescent↗
PubMed1987

Nucleotide sequence for the cDNA of the bovine beta B2 crystallin and assignment of the orthologous human locus to chromosome 22.

We have identified and characterized two over-lapping bovine cDNA clones corresponding to the bovine crystallin beta Bp. The longer of the two clones, which contains the entire coding and 3' untranslated region as well as 54 nucleotides of the 5' untranslated sequence was used to identify and map an orthologous human gene, Hu beta B2, to chromosome 22, q11.2-q12.2. As one other human beta-crystallin, Hu beta A3/A1, has been mapped to chromosome 17, our results indicate that, unlike the tightly linked gamma-crystallins, the human beta-crystallins are not syntenic within the genome.

Amino Acid Sequence↗
PubMed1987

Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp11.2.

Gyrate atrophy is a hereditary chorioretinal degeneration associated with a deficiency of ornithine aminotransferase (OAT). By means of a complementary DNA clone encoding human OAT, the OAT gene sequences were mapped by somatic cell hybrids and in situ hybridization to human chromosome regions 10q26 and Xp11.2. A review of 80 biochemically confirmed cases of gyrate atrophy confirmed the autosomal recessive inheritance of this disease and supported the presence of a functional OAT gene on chromosome 10. Interestingly, the X chromosome OAT gene sequences (Xp11.2) map to the same region as L1.28 (Xp11.0-p11.3), a marker closely linked to X-linked recessive retinitis pigmentosa.

Chromosome Mapping↗
PubMed1986

Assignment of the human and mouse prion protein genes to homologous chromosomes.

Purified preparations of scrapie prions contain one major macromolecule, designated prion protein (PrP). Genes encoding PrP are found in normal animals and humans but not within the infectious particles. The PrP gene was assigned to human chromosome 20 and the corresponding mouse chromosome 2 using somatic cell hybrids. In situ hybridization studies mapped the human PrP gene to band 20p12----pter. Our results should lead to studies of genetic loci syntenic with the PrP gene, which may play a role in the pathogenesis of prion diseases or other degenerative neurologic disorders.

Animals↗
PubMed1984

Thermal marrow expansion: effect of temperature on bone marrow distribution.

The distribution of bone marrow in adult mammals is limited mainly to those bones deeply embedded in the body and subject to the higher core body temperature. Active marrow is much less prevalent in the limbs. In the past this was attributed to the lower temperature of the peripheral bone marrow. We have studied the possibility of stimulating hematopoiesis in the limbs (and tails) by increasing the limb temperature. This has been done by elevating the ambient temperature of mice and by tail implantation techniques. Mice incubated at ambient temperature of 22 degrees C can be "expanded" to have markedly enhanced marrow activity in the limbs by either incubation for seven days or more at 34 degrees C, or by implantation of the bone into core temperature areas (peritoneal implantation). The increase in marrow activity is shown both histologically and by 59Fe uptake techniques. Anemia does not enhance this effect, indicating a local phenomenon. A variety of experiments suggest that temperature per se and not temperature-induced increase in blood flow is involved. The increase in marrow activity is accompanied by a modest local increase in clonogenic marrow stem cells but it cannot be shown for certainty whether the phenomenon of Thermal Marrow Expansion (TME) is due to the local effect of elevated temperature on stem or stromal cells. The erythrocytes produced by TME appear normal by in vivo fragility testing. TME may have clinical usefulness in man if the phenomenon occurs in the same fashion as rodents.

Anemia↗
PubMed1984

Chromosome deletion mapping of interspersed low-copy repetitive DNA.

A cloned 2.2 Eco RI segment of interspersed repetitive DNA was hybridized to genomic DNA from a mentally retarded patient with an interstitial deletion in the long arm of one chromosome 12 (12q-). Under hybridization conditions of high stringency, one prominent 2.2-kilobase (kb) Eco RI fragment demonstrated reduced autoradiographic intensity in the 12q- sample compared with several normal controls. These findings indicate that the genomic location for one of the highly or perfectly homologous 2.2-kb Eco RI fragments is in chromosome region 12q21q22, and suggest that a low-copy repetitive DNA probe as used here may have practical utility, as in detecting small deletions or other chromosome alterations.

Animals↗
PubMed1982

Pharmacologic requirements for obtaining sensitization of human tumor cells in vitro to combined 5-Fluorouracil or ftorafur and X rays.

The combined effects of X ray and 5-Fluorouracil (5-FU) in tissue culture have been studied using two human adenocarcinoma lines (HeLa and HT-29 cells). Both showed similar sensitivities to 5-FU, HeLa cells appearing somewhat more resistant to higher concentrations. Combined treatment of both cell types with 5-FU and X rays led to a time-dependent enhancement of cell killing ("radiosensitization"). Only post-radiation incubation had any effect, prior exposure to 5-FU being strictly additive. Enhanced cell killing by combined 5-FU and X rays could not be explained by either the infliction of additional acute damage in the immediate post-radiation period or an inhibitory effect of 5-FU on the repair of sub-lethal X ray injury. Rather, the enhanced cytotoxicity proved to be dependent on a damage expressed in time periods exceeding the duration of a cell doubling time in vitro. Overall, the data equally suggest that X rays may sensitize the cells to 5-FU. The enhanced cell killing is maximized if the cells are continuously exposed to 5-FU for 48 hours following the X ray exposure. These results indicate that clinical treatment regimens might be useful in evaluating 5-FU infusional scheduling in accordance with these unique requirements, which are not met by conventional bolus 5-FU and X ray therapy fractionation regimens. Ftorafur, a drug proposed to act as a slow release form of 5-FU, was found to show limited cytotoxic potential in vitro and did not significantly enhance cell killing after X ray exposure.

Cell Survival↗
PubMed1982

Familial Y-autosome translocation in two unrelated girls.

Two unrelated girls presenting with developmental delay were found to have familial Y-autosome translocations. The first had a Y;15 and the second a Y;22 translocation, involving only the Y heterochromatin on the basis of Q, C, SS, distamycin A and DAPI techniques. The first patient died of a medulloblastoma and at autopsy was found to have an adrenal neuroganglioma. The Y-autosome translocations in the affected patients were identical to those in their respective normal fathers (who had normal Y chromosomes as well). The absence of detectable translocated euchromatin from the subcentromeric region of the Y chromosome is consistent with normal female external genitalia and the absence of germ cell tumors in both patients. Whether the nongonadal neoplasias and hypoplastic uterus and ovaries in the first patient were related to the Y;15 translocation remains uncertain.

Child, Preschool↗
PubMed1981

Pentasomy X: report of patient and studies of X-inactivation.

A five-year-old girl presented with mental retardation (MR), microcephaly, short stature, ptosis, malocclusion, abnormal elbows, fifth finger clinodactyly, joint hyperextensibility in hands and feet, renal hypoplasia, nonobstructive ureteral stasis, pyelonephritis, and renal failure. Five X chromosomes (49,XXXXX) were found in all peripheral blood lymphocytes and skin fibroblasts examined. Xa RBC typing, utilizing serial dilutions of antiserum, gave agglutination at a higher titer than in either Xg(a+) positive parent; the patient's serum IgM was also elevated. These immunological findings imply a lack of dosage compensation and incomplete inactivation of some X-linked loci.

Abnormalities, Multiple↗
PubMed1980

C-band polymorphism: comparison between trisomy 21 cases and mentally retarded controls.

C-banding was done prospectively on 50 Down syndrome (trisomy 21) cases and 50 mentally retarded controls. Heterochromatin was quantitated by measuring the lengths of heterochromatin blocks and comparing these segments to the length of the short arm of chromosome 16 for 1, 9 and 16 heterochromatin, and to the total length of the Y chromosome for the Y heterochromatin in the distal long arm. For the first 30 individuals in each group, there was no difference in the mean lengths of C-band blocks of the 1, 9, 16 and Y chromosomes. For the total sample, there also was no difference between the trisomy 21 cases and controls in the number or size of pericentric inversions involving the heterochromatin blocks of chromosomes 1 and 9. Assuming random segregation of the parental C-band polymorphisms, this study gives no evidence for an association between such polymorphisms of the 1, 9, 16 and Y chromosomes and nondisjunction of chromosome 21.

Chromosome Banding↗
PubMed1980

Probable linkage between the human galactose-1-P uridyl transferase locus and 9qh.

Evaluation of a family in which electrophoretic variants of the eznyme galactose-1-phosphate uridyl transferase (GALT) and 9qh variants occur demonstrates close linkage between these two traits: lod score of 3.67 at theta = 0. Taken with information indicating GALT is on the short arm of chromosome 9, these linkage data suggest that this locus is close to the centromere on the short arm of chromosome 9.

Blood Protein Electrophoresis↗
PubMed1979

Prominent acrocentric chromosome satellites in child patients with mental retardation or psychiatric disorders; no IQ-satellite size correlation.

Child patients with mental retardation or psychiatric disorders were selected for the presence of prominent acrocentric chromosome satellites and highest or lowest IQ scores. No correlation was found between IQ scores, of which eleven were below IQ 54 and 16 above IQ 68, and the length of acrocentric short arm, satellite, stalk, or short arm material below the stalk. Conventional staining, quinacrine fluorescence, C banding and ammoniacal silver staining revealed the apparent same acrocentric short arm variation between patient and one parent in eight families studied. These findings suggest that the satellite variants were truly normal variants and not etiologically related to the developmental disorders seen in the patients.

Child↗
PubMed1979

Phenotypic variation in two patients with a ring chromosome 22.

Two severely mentally retarded patients with a ring chromosome 22 presented with disparate phenotypes: one patient manifested only minimal dysmorphic features, whereas the other had a distinctive pattern of anomalies consisting of an abnormal skull configuration with mild maxillary hypoplasia, a large nose, thick full lips, a protruding tongue, lymphedema, hypotonia and an unsteady gait. The findings in these and previously reported patients indicate that a ring chromosome 22 is usually associated with moderate to severe mental retardation, with a range of dysplastic features from mild and nonspecific to more marked and distinctive.

Abnormalities, Multiple↗
PubMed1979

The 9p-syndrome.

A 13-year-old boy with 9p- (p22 leads to pter) is reported. He had many features in common with previous 9p- cases, as well as several distinctive features including polydactyly and precocious puberty. Cytogenetic studies revealed a de novo deletion distal to ban 9p22, which was the reported site of chromosome break in 9 of the 10 previous 9p- cases. Evaluation of the human GALT enzyme suggests that its locus is not on the deleted segment.

Abnormalities, Multiple↗
PubMed1978

Report of a trisomy 8p infant with carrier father.

This report describes an infant with fatal congenital heart disease, cleft palate, brain malformations, and trisomy 8p resultant from the paternal balanced reciprocal translocation, rcp(8;15) (p11;p11). Review of six previously reported trisomy 8p patients (resultant from parental balanced translocation in each instance) revealed severe mental retardation in five, short stature in all, and a variety of brain, skeletal, and cardiac defects. The features of the seven trisomy 8p patients reviewed here are not sufficiently similar to suggest a distinct dysmorphic syndrome. In addition the features differ from those in the trisomy 8 mosaicism syndrome, in which the mental retardation and malformations are generally less severe.

Abnormalities, Multiple↗