PubMed Health⌕ Search

Biomedical subjects

M Anvret

Publications and source records attributed to M Anvret.

138 records · Page 8Linked to original sources
PubMed1987

Linkage of G8 (D4S10) in two Swedish families with Huntington's disease.

Two Swedish families with Huntington's disease (HD) have been investigated for linkage with G8 (D4S10). In one family from northern Sweden (Family 1) 48 family members were examined, and in another family from the southwestern part of Sweden (Family 2) 14 family members were examined. The lod scores were 1.531 for Family 1 and 2.057 for Family 2, and the combined lod score was 3.59. The HD gene was segregating with the haplotype C in Family 1 and with haplotype A in Family 2. The predictive value of the test was obvious. Before the testing with the G8 probe, 84.2% of the family members in Family 1 had a theoretical risk of 25% or 50% of having the HD gene. After the testing with the G8 probe, only 23.7% of the family members remained at the same risk, and it could also be certified that 63.2% had no or little risk of having the HD gene. Only one asymptomatic person was predicted to have HD.

Female↗
PubMed1986

Chromosome findings in the Rett syndrome and a test of a two-step mutation theory.

Chromosome findings are described in 22 girls with the Rett syndrome. One of the girls had a duplication of chromosome 6, another showed a deletion X(p22----pter) in 10% of the cells from fibroblast cultures. Fragile X(p22) was seen in 9 of the 22 girls with Rett syndrome. A relationship between the disorder and fragile X(p22) could not be proven. Family data contradict our theory of a two-step mutation as the cause of the Rett syndrome.

Adult↗
PubMed1985

Linkage analysis of the Rett syndrome using human chromosomal specific probes.

Restriction fragment length polymorphic (RFLP) human DNA probes have been used for linkage analysis in families with the Rett syndrome. A cytogenetic marker could be detected in 6 out of 14 cases of the Rett syndrome in the region of Xp22, and a deletion was seen in one severe case. Informative results were obtained with two of the chromosomal specific DNA probes, 99.6 and D2, in two different families.

Child↗
PubMed1984

Evidence for integrated EBV genomes in Raji cellular DNA.

Human lymphoid cell lines cannot be grown in long-term tissue culture, as a rule, unless the cells have been transformed by Epstein-Barr virus (EBV). The latent EBV DNA in established cell lines, is mainly present as free covalently closed circles but viral DNA sequences with properties of integrated DNA also seem to be present. We have extended the studies on the physical state of the EB viral DNA sequences in the cell line Raji which appear at a lower density than that for free EB viral DNA during fractionation on CsCl density gradients. In such material a novel EcoRI EBV DNA fragment is present, which hybridizes to viral sequences homologous to EcoRI A. This fragment is not present in free covalently closed circular EBV DNA. When this EcoRI fragment is further analysed with HindIII a smaller fragment than expected, which contains BamHI W sequences, is detected. The demonstration of this HindIII fragment and its characteristics as a joint, viral-host chromosome fragment will be discussed.

Burkitt Lymphoma↗
PubMed1983

Epstein-Barr virus markers in a series of Burkitt's lymphomas from the West Nile District, Uganda.

In an epidemiological survey in the West Nile District of Uganda, 70 pathologically confirmed BL cases were detected over a 5-yr period; this corresponded to an annual incidence rate of 1.6 per 100,000 general population or about 5 per 100,000 children in the age group 5-14 yr. Of the confirmed cases which were examined by EBV/DNA molecular hybridization, 96% were found to contain an average of 38 EBV genome equivalents per tumour cell, whereas none of the examined unconfirmed cases did. Duplicate hybridization assays in two laboratories were in close agreement. Serological testing showed that 91% of the confirmed BL cases had elevated EBV/VCA titres (greater than or equal to 160) and 64% were EA(D)-positive (greater than or equal to 10). Most of the cases with high EBV/genome content had high VCA titres, but there was a poor correlation between the two parameters among all cases. This study confirms that in high BL incidence areas the association between EBV and this lymphoma is almost constant, whereas it is exceptional in low-incidence areas. This further supports the aetiological implication of EBV in the endemicity of this tumor in equatorial Africa.

Adolescent↗
PubMed1982

Epstein-Barr virus in nasopharyngeal and salivary gland carcinomas of Greenland Eskimoes.

Biopsy specimens from nasopharyngeal carcinomas (NPC) or salivary-gland carcinomas (SGC) in Greenland Eskimoes were examined for the presence of Epstein-Barr virus (EBV) DNA and sera from the patients were tested for EBV-specific antibody titres. Six out of 7 NPCs and one from an undifferentiated SGG were positive for EBV DNA. The EBV-specific antibody spectra and titres of the patients with NPC or undifferentiated SGG conformed to the results of earlier studies in other high-incidence areas.

Adult↗
PubMed1981

Epstein-Barr-virus-carrying lymphoma in a patient with ataxia-telangiectasia.

An undifferentiated lymphocytic lymphoma of mesenteric lymph nodes occurred in a young boy with ataxia-telangiectasia. Two independent tests, Epstein-Barr virus (EBV)-cRNA/DNA hybridisation and EBV DNA/DNA reassociation kinetic analysis, showed 53 and 68 EBV genome equivalents per cell respectively, which was compatible with an EBV-genome-carrying tumour. Whether this was a polyclonal lymphoproliferation or a monoclonal tumour could not be determined owing to lack of suitable material. The presence of EBV genomes should be sought in lymphomas arising in ataxia-telangiectasia and other immunodeficiencies.

Abdominal Neoplasms↗
PubMed1981

Documentation of Epstein-Barr virus infection in immunodeficient patients with life-threatening lymphoproliferative diseases by clinical, virological, and immunopathological studies.

Multiple methods, pedigree analysis, clinical evaluation, and Epstein-Barr virus (EBV)-specific serology, EBV DNA hybridization of tissues to probe for viral genome, staining of touch imprints for EBV nuclear-associated antigen, establishment of spontaneous infected B-cell lines from peripheral blood or tissues, examination of peripheral blood smears, and hematopathology studies, were used to study seven patients with the X-linked lymphoproliferative syndrome and seven additional patients with life-threatening EBV-associated diseases. These studies demonstrated EBV in the tissues of all 14 patients and immunodeficient antibody responses to EBV were documented. This virus can produce various life-threatening lymphoproliferative diseases in a variety of immunodeficient patients.

Adolescent↗
PubMed1981

Documentation of Epstein-Barr virus infection in immunodeficient patients with life-threatening lymphoproliferative diseases by Epstein-Barr virus complementary RNA/DNA and viral DNA/DNA hybridization.

Tissues from patients thought to have Epstein-Barr virus (EBV)-induced lymphoproliferative diseases were probed for EBV genomes using 2 independent hybridization techniques. Tissues from six patients with the X-linked lymphoproliferative syndrome, all five renal allograft recipients with immunoblastic sarcoma, and eight patients with diverse types of immunodeficiency and lymphoproliferative diseases such as fatal infectious mononucleosis or malignant lymphoma associated with antecedent immunodeficiency contained significant numbers of EBV genome equivalents per cell. The use of 2 hybridization probes is recommended to confirm the presence of EBV genomes. The finding of significant numbers of EBV genomes in tissues from patients with immunodeficiency suggests that EBV is the etiological agent of the associated lymphoproliferative diseases.

Adolescent↗