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Biomedical subjects

R S Sparkes

Publications and source records attributed to R S Sparkes.

At least 235 records · Page 13Linked to original sources
PubMed1981

Genetic linkage analysis of dermo-distortive urticaria.

We have described a new hereditary physical urticaria, dermo-distortive urticaria (DDU) [1]. In an attempt to man the locus of this autosomal-dominant disorder and to further characterize it, a linkage analysis with 18 genetic markers was done. Close linkage of DDU with TCII, GALT, Gc, Fy, Kell, and Se was excluded. The most significant positive lod score was for the MNSs blood antigen system, which has a maximum lod score of 1.09 at theta = 0.24 for all 28 family members who were typed. Although close linkage with DDU is not demonstrated at any marker, this study illustrates how linkage analysis may prove to be of value in the characterization of newly discovered heritable disorders.

Chromosome Aberrations↗
PubMed1981

Cytogenetic analysis in human bone marrow transplantation.

Chromosome and sex chromatin studies have contributed significantly to the evaluation of human bone marrow transplants. In addition to their use in documenting bone marrow engraftment following transplantation, they have been used to (1) evaluate whether recurrent leukemia occurs in donor or recipient cells and whether recovery in aplastic anemia results from growth of host or donor cells, (2) demonstrate the bone marrow origin of pulmonary macrophages and hepatic Kupffer cells, (3) show that bone marrow fibroblasts have an origin different from that of the hematopoietic bone marrow cells, (4) evaluate twin zygosity in preparation for transplantation, and (5) show that the defect in Fanconi's anemia is intracellular.

Adolescent↗
PubMed1981

Regional assignment of genes for human alpha-globin and phosphoglycollate phosphatase to the short arm of chromosome 16.

The human alpha-globin and phosphoglycollate phosphatase (EC 3.1.3.18) genes have been regionally localized to the short arm of human chromosome 16 (HC16). This was accomplished by fusing mouse fibroblasts (A9) to human fibroblasts that contain a reciprocal translocation between the long arms of chromosomes 16 and 11. The murine A9 cells are deficient in adenine phosphoribosyltransferase (APRT), an enzyme present on the long arm of HC16 (HC16q). Hybrid cells were grown in selection culture medium that required the cells to retain human APRT. Therefore, the hybrids exhibited stable retention of the entire HC16 or the rearranged chromosome containing HC16q. We isolated five independent primary and secondary hybrid cell lines which retained either HC16 or HC16q at a high frequency. The presence of human alpha-globin genes in the various clones was established directly by DNA extraction and hybridization to a cDNA probe for human alpha-globin genes. Autoradiographs showed that hybrid cells containing the long arm, but not the short arm, of HC16 showed only the background mouse bands. Hybrid cells that retained the entire HC16 demonstrated the band(s) containing the human alpha-globin genes. Hybrid cells that contained HC16 with its alpha-globin genes were then placed in culture medium that contained diaminopurine, which is lethal for cells containing APRT. These counter-selected hybrid cells had lost HC16 and also lost the human alpha-globin genes as determined by blot hybridization. The presence of alpha-globin gene sequences in the hybrid clones was concordant with HC16 only and not with any other human chromosome. These results confirm the assignment of alpha-globin genes to HC16 and localize the genes to the short arm. We also assign the locus for phosphoglycollate to the short arm of HC16.

Animals↗
PubMed1981

Chronic myelocytic leukaemia: a pluripotent haemopoietic cell is involved in the malignant clone.

Haemopoietic cells with pluripotent capabilities, were grown in soft-gel cultures from the peripheral blood of a glucose-6-phosphate dehydrogenase (G6PD) electrophoretic A,B heterozygous female with chronic myelocytic and granulocytic progeny. Only type B isoenzyme of G6PD was found in mixed colonies, in mature neutrophils, erythrocytes, and committed granulocyte and isoenzymes of G6PD. This study provides direct evidence that a pluripotent haemopoietic stem cell is involved in the malignant clone in CML.

Adult↗
PubMed1981

An XXXY boy with X/XY half-sister.

The clinical findings in a 13-year-old 48,XXXY boy are described. His half-sister (same mother) has a 45,X/XY karyotype. The Xga blood studies are compatible with his extra X's originating from the mother. These Xga studies and the IgM levels in the 48,XXXY boy raise the possibility of a gene-dosage effect for X-linked genes affecting these traits. The proband also has chronic pulmonary problems, an interesting association that has been noted with the Klinefelter syndrome, usually in adults.

Adolescent↗
PubMed1981

Late replication studies in a human X/13 translocation: correlation with autosomal gene expression.

Chromosome replication pattern was reevaluated in an unbalanced X/13 translocation carrier, 46,X,der (X),t(X;13)(q27;q12), using the BudR-acridine orange technique. The translocated chromosome, Xpter leads to q27::13q12 leads to 13qter, was late replicating in all analyzed cells. The autosomal segment showed a replication pattern comparable to the two normal, and presumably genetically active, chromosome 13's, with the exception of band 13q22, which was consistently late replicating. Measurements of red-cell levels of esterase D (ESD) (a marker assigned to 13q14) showed a 50% increase in ESD activity, compared to that in normal controls and parents of the patient. This suggests noninactivation of the ESD locus on the der(X) chromosome, a finding consistent with the late-replication data.

Carboxylesterase↗
PubMed1981

Insights into the expression of ABH and Lewis antigens through human bone marrow transplantation.

Twelve information bone marrow transplants, with at least one difference in ABO and/or Lewis types between donor and recipient, were retrospectively studied. ABH and Lewis antigens were determined in plasma, erythrocytes, and lymphocytes. Donor lymphocytes acquired the ABH and Lewis antigens from the recipient's plasma in the same way that donor erythrocytes acquired the Lewis antigens from it. Lymphocytotoxicity detected type 1 ABH and Lewis antigens only, providing evidence for the existence of combined ABH and Lewis antigens on lymphocytes. This was in contrast with the ABH antigens on type 2 chains of red cells, which are devoid of Lewis specificities. The differences in genetic control, probable chemical structure, and cellular origin of these two types of ABH antigens are presented in a theoretical model that accounts for most of the known data.

ABO Blood-Group System↗
PubMed1981

Somatic cell hybrid analyses of hematopoietic differentiation.

A differentiated cell expresses an entire set of specialized features. Somatic cell hybridization provides a method to examine control of gene regulation. We studied the expression of tissue-specific features in hybrids between human promyelocytes (HL-60) and human Burkitt's lymphoma cells (P3HR-1). Two hybrid lines, HP-1 and HP-2, and 18 hybrid clones were established and confirmed by karyotype, isozyme, and surface antigen analyses. The hybrids extinguished the 10 myeloid (HL-60) features that we examined including myeloid morphology, histochemistry, and functions that included response to colony-stimulating factor and ability to differentiate to granulocytes or macrophages. In contrast, the hybrids synthesized immunoglobulin and expressed Epstein-Barr nuclear, early, and viral capsid antigens similar to the P3HR-1 lymphoid parental line. Results are contrasted to the findings when P3HR-1 lymphocytes are fused to human erythroid-myeloid cells (K562). Taken together, our results suggest that phenotypic differences between human myeloid and lymphoid cells in the hematopoietic lineage involve mutually exclusive programs and may possibly be mediated by the activity of diffusible, transacting molecules.

Antigens, Viral↗
PubMed1981

Balanced reciprocal (X;9) translocation in a girl with primary amenorrhea.

An 18-year-old girl with an X-autosome translocation t(X;9)(q22;q12) had primary amenorrhea without other manifestations of the Turner syndrome. X-replication and GALT activity studies showed that both of the two translocated X fragments and adjacent autosomal segments are active. An explanation is offered to account for the relationship between the abnormal karyotype and the phenotype. It is suggested that a position effect and/or an effect exerted between reactivation of the X chromosome and oocyte meiosis may be important in the pathogenesis of the amenorrhea.

Adolescent↗
PubMed1980

Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14.

The expression of human esterase D was evaluated quantitatively and qualitatively in five persons with partial deletions or duplications of chromosome 13. The results showed that the locus of this enzyme is at band 13q14. Deletion of this same band in other subjects has been found previously to indicate a predisposition to the development of retinoblastoma, which was present in the four individuals in this study who had partial deletions of chromosome 13. Because of this close synteny, esterase D evaluation should aid in the diagnosis and genetic counseling of retinoblastoma.

Chromosome Deletion↗
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

Assignment of the human gene for phosphoglycolate phosphatase to chromosome 16.

Seventeen independently derived primary mouse-human hybrid clones were scored for the expression of human phosphoglycolate phosphatase (PGP) by electrophoresis and for the presence of human chromosomes with the aid of Q banding. The correlation of biochemical and cytogenetic analyses shows that the segregation of human PGP in these hybrids is concordant only with human chromosome 16, thus enabling the assignment of the genetic locus for PGP to human chromosome 16.

Animals↗
PubMed1980

Abnormal cerebral cortical convolutions in an XYY fetus.

Because of maternal disease a pregnancy was electively terminated at 21 weeks of fetal gestation. At autopsy the fetus showed an abnormal pattern of cerebral cortical convolutions involving the frontal lobes. Karyotpic analysis revealed an XYY sec chromosome constitution. This observation, if confirmed in other XYY cases, raises the possibility that a developmental abnormality of the cerebral cortex may be involved in the higher-than-normal risk for behavioral disability exhibited by men with this genotype.

Cerebral Cortex↗
PubMed1980

Further observations on a 13qXp translocation associated with retinoblastoma.

In a patient with a 13qXp translocation and retinoblastoma the band associated with retinoblastoma (13q14) was clearly translocated intact to the X chromosome rather than being the breakpoint of the translocation. Genetic inactivation of the derivative X chromosome shown by late labeling and cell hybridization techniques in the predominance of cells indicated a functional monosomy for this segment as the most likely predisposing factor in producing retinoblastoma.

Chromosomes, Human, 13-15↗