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Biomedical subjects

D Weil

Publications and source records attributed to D Weil.

At least 127 records · Page 7Linked to original sources
PubMed1981

Biochemical evidence for the non-inactivation of the steroid sulfatase locus in human placenta and fibroblasts.

Steroid sulfatase activities are significantly higher in placentas obtained after the birth of girls than after the birth of boys, and also in female fibroblasts compared to male strains. This constitutes biochemical evidence for the non-inactivation of the X-linked sulfatase locus. No hydrolytic activity is found in the fibroblasts of ichthyotic boys. Heterozygosity is demonstrated in the fibroblasts of the four mothers studied, as they have steroid sulfatase activity of less or equivalent to the normal male value.

Cells, Cultured↗
PubMed1981

Muscle phosphofructokinase deficiency in man: expression of the defect in blood cells and cultured fibroblasts.

Using specific immunoprecipitation of M-type phosphofructokinase and assay of immunoprecipitate enzyme activity, it was possible to detect some M-type enzyme in normal blood cells and fibroblasts, although this isoenzyme represents a very small part of total phosphofructokinase. White blood cells and cultured fibroblasts from a patient with hereditary muscle phosphofructokinase deficiency showed normal phosphofructokinase activity and electrophoretic pattern; direct immunoneutralization results were also normal. Nevertheless, it was possible to prove the defect in these cells using the immunoprecipitation method: no active immunoprecipitates could be obtained with anti M-type antibody. The patient's red blood cells had a reduced phosphofructokinase activity which was only neutralized by anti L-type antiserum. The purification of partially deficient red cell phosphofructokinase confirmed that this enzyme only consisted of L-type subunits while, under normal conditions, both L- and M-type subunits are observed. The possibility of detecting specific enzyme defects in apparently non-affected cells could be of practical importance, especially in prenatal diagnosis.

Adult↗
PubMed1981

Regional localization of the genes for human HEXB. PGK, GALA. HPRT, G6PD by somatic cell hybridization.

Twenty independent man-mouse (Cl1D,LA/TK-, HPRT-) and man-hamster (CH,HPRT-) hybrids using female human cells with balanced reciprocal translocation XX,t(X;5)(q21;q11) were analyzed for human genes localized on chromosome 5 (HEXB), on chromosome X (PGK, GALA, HPRT, G6PD) and for the different chromosomes in relation with the balanced reciprocal translocation (chr.5, chr.5q-, chr.Xq+, chr.X). The different results obtained indicate that the genes for human markers HEXB, PGK are on Xq+, and that the genes for human markers GALA, G6PD are on 5q-. These data implicate finally the following localizations: HEXB on 5q11 leads to 5qter; PGK on Xq21 leads to Xpter; GALA, HPRT, G6PD on Xq21 leads to Xqter.

Animals↗
PubMed1981

[Genetic and epigenetic control of adenosine deaminase expression. Analysis of human and man-mouse hybrid cells (author's transl)].

Analysis of human-rodent hybrids showed the following: the assignment of the ADA1 structural gene to chromosome 20; the identification in hybrids of a new ADA, referred to as ADAx, with a migration more rapidly anodal than ADAd and less rapidly anodal than ADA1 (product of allele 1 or 2); ADAx and d are formed by ADA1 and ADCP (an adenosine deaminase complexing protein). ADCP synthesis is controlled, at least, by a gene (ADCP2) localized on chromosome 2, probably in the IDH1 region; the combined action of another gene (ADCP1), assigned by other authors to chromosome 6, could be neither proved nor disproved, if this gene exists, it must be on 6p or in the 6qter region; the presence of chromosomes 20, 2, and 6 does not constitute a sufficient condition for the formation of ADAx and d, in either the hybrids or the human strains or lines: other factors intervene in its formation, i.e., an interaction between the culture medium, the human parental strain or line, and the rodent parental line.

Adenosine Deaminase↗
PubMed1980

Erythrocyte glyoxalase I and esterase D polymorphisms in four French populations.

The genetic polymorphism of two new erythrocyte markers GLO I (EC 4.4.1.5) and esterase D (EC 3.1.1.1) has been investigated in four French populations: Basques and Toulouse groups (southwest area), Lille and Strasbourg (northern and eastern part of the territory). The distribution of GLO I and EsD alleles within these communities has shown some significant differences. Basques samples are characterized by the highest frequency of EsD1 gene (0.911) and the lower rate of GLO1 (0.364). The observed data are compared with other results previously reported in France and in Western European populations.

Electrophoresis, Starch Gel↗
PubMed1980

Investigations on the chromosomal localizations of the human and chimpanzee interferon genes: possible role of chromosomes 9 and 13.

Analysis of a great number of independent hamster-human and mouse-chimpanzee somatic cell hybrid clones confirms the role of chromosome 9 as carrying one or more primate beta interferon genes. The presence of chromosome 13 in producing hybrids and its absence in all non producing clones must be kept in mind for future studies. The strong negative regulation of interferon production in the parental hamster cells also affects the human gene product. The UV irradiation target for these regulatory genes is significantly greater than the structural genes responsible for interferon production.

Animals↗
PubMed1980

[Assignment of the creatine kinase BB gene to chromosome 14 by man-rodent cell hybridization (author's transl)].

The value of man-rodent hybrids for detecting creatine kinase BB (CKBB) was greatly increased by the use of an agar technique, in extended incubation (20 hours) with a concentrated solution of creatine as substrate (8 mg/ml instead of 1 mg/ml as usual). The selection of a man-rodent hybrid without discordant between chr. 14 and nucleoside phosphorylase (NP) (a marker of this chromosome) contributed efficiently to the detection of the positive correlation between CKBB and chr. 14/NP. Among 22 independent hybrids, the following were observed : 8 NP + CKBB+, 3 NP + CKBB(+), 11 NP-CKBB- and 6 chr. 14 + CKBB+, 2 chr. 14 + CKBB(+), 11 chr. 14 CKBB-, 2 chr. 14/CKBB+ and 1 chr. 14/CKBB(+). The presence of the chromosome was noted + or - according to its presence in more or less than 30% of the cells. These results show that the gene for CKBB is located on chr. 14 and that the presence of this single chr. 14 is sufficient for the expression of human CKBB in man-rodent hybrids. Discordant results reported by others (Povey et al., 1979) may be due to the weakness of the human CKBB detection in man-rodent hybrids or to the bad conservation of this enzyme.

Animals↗
PubMed1979

[Localization of the gene for phosphoglycolate phosphatase (PGP) on the chromosome 16 by interspecific hybridization (author's transl)].

Eight primary man-mouse (C11D/TK-) hybrids, twenty three primary and seven secondary man-hamster (CH/HGPRT-) were analyzed for human phosphoglycolate phosphatase (PGP) and for human chromosomes. The following results were obtained: 1. A positive correlation is observed between the chromosome 16 and PGP. 15 hybrids are chr.16+PGP+, 14 hybrids are chr.16-PGP- and 4 hybrids are chr.16-PGP+. 2. The percentage of dissociation between PGP and the chr.16 is low (12%) in comparison with the high percentage of dissociation between PGP and the other autosomes (between 37% and 65%). 3. Excepted the chromosome 16, the other autosomes are observed in hybrids PGP-. These different results indicate the localization of the gene for human PGP on the chromosome 16. The dissociation results chr.16-PGP+ are explained by the breakage of the chr.16 in the hybrids.

Animals↗
PubMed1979

[Monitoring of intracranial pressure in 2 severe cases of Reye's syndrome].

The intracranial pressure (PIC) of two children with Reye's sundrome aged 9 years 7 months and 4 years 7 months was monitored for 9 and 5 days respectively with a subdural device. This provided a useful guide to the treatment that was necessary to reduce the very high intracranial pressure. One of the patients died of uncontrollable raised intracranial pressure (HIC). This monitoring technique should be used in all cases of HIC.

Child↗
PubMed1978

Assignment of NADH-cytochrome b5 reductase (DIA1 locus) to human chromosome 22.

NADH-cytochrome b5 reductase (DIA1, EC. 1.6.2.2) from human fibroblasts and from Chinese hamster cells, both identified by immunologic studies, were clearly distinguished after polyacrylamide gel isoelectro-focusing followed by staining for NADH diaphorase activity. In thirteen independent man-hamster hybrids, the human enzyme DIA1 presented a positive correlation with the human chromosome G22. Eight hybrids were DIA1(+) G22(+) and five hybrids were DIA1(-) G22(-). These data agree with the recent assignment of DIA1 to chromosome G22 by Fisher et al. (1977a). We assume that this newly assigned locus codes for both soluble and microsomal forms of NADH-cytochrome b5 reductase.

Animals↗
PubMed1978

[Assignment of alpha-Fuc to1p in man and the chimpanzee and to chromosome 4 in the African green monkey].

Analysis of cellular hybrids confirms the assignment of alpha-L-fucosidase (alpha-FUC) to 1p in man. Discordant results are in favour of the following gene order: 1pter (ENO-1, alpha-FUC,AK2) PGM1 centromere Pep-C but give no information on the relative positions of ENO-1,alpha-FUC, and AK2. The assignments of alpha-FUC to chromosome 1 in the chimpanzee and to chromosome 4 in the African green monkey are demonstrated (chromosome nomenclature by Finaz et al, 1976). These results confirm the homology of chromosome 4 of the African green monkey and 1p of man and the chimpanzee.

Animals↗