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Biomedical subjects

F Gilbert

Publications and source records attributed to F Gilbert.

At least 145 records · Page 8Linked to original sources
PubMed1975

Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes.

The techniques of somatic cell genetics have been used to establish the linkage relationships of loci coding for two forms (A and B) of hexosaminidase (EC 3.2.1.30; 2-acetamido-2-deoxy-beta-D-glucoside acetamidodeoxyglucohydrolase) and to determine whether a structural relationship exists between these forms. In a series of human-mouse hybrid cell lines, hexosaminidase A and B segregated independently. Our results and those reported by other investigators are used to analyze the proposed structural models for hexosaminidase. We have also been able to establish a syntenic relationship between the gene locus responsible for the expression of hexosaminidase A and those responsible for mannosephosphate isomerase and pyruvate kinase-3 and to assign the gene for hexosaminidase B to chromosome 5 in man. There is thus a linkage between specific human autosomes and enzymes implicated in the production of lipid storage diseases.

Animals↗
PubMed1973

An informative solution to a seismological inverse problem.

Preliminary results are presented that infer that 2 sec should be added to the tabular values for P phases and 4 sec to the tabular values for S phases of seismic travel times. From seismic evidence, the radius of the inner core of the Earth is 1229-1250 km; the radius of the outer core is 3482-3485 km. Data are presented relating resolving power with error of measurement for the Earth's mantle.

Journal Article↗
PubMed1970

Regulation of acetylcholinesterase in neuroblastoma cells.

The specific activity of mouse neuroblastoma acetylcholinesterase (EC 3.1.1.7) increased 25-fold when the rate of cell division was restricted. The results show that acetylcholinesterase activity is regulated in neuroblastoma cells and that the regulatory mechanism is inversely related to the rate of cell division. Under the same conditions the specific activity of catechol-O-methyl transferase (EC 2.1.1.6) did not change significantly.

Acetylcholinesterase↗
PubMedDate not supplied

Maternal cell contamination of amniotic fluid cell cultures from two consecutive pregnancies complicated by fibroids.

The detection of maternal cells in amniocyte cultures is thought to be due to the outgrowth of cells from small fragments of maternal tissue removed by the amniocentesis needle. An unusual case is reported in which maternal cell contamination (MCC) was found in the cell cultures from a woman in two different amniocenteses from two consecutive pregnancies. Both pregnancies were complicated by the presence of fibroids and the fibroid tissue may have been the source of the maternal cells. A history of an amniocentesis in which there was MCC of cell cultures, or the detection of fibroids, may pose an additional risk for MCC attributable misdiagnosis in prenatal genetic studies.

Adult↗
PubMedDate not supplied

Amplified DNA with limited homology to myc cellular oncogene is shared by human neuroblastoma cell lines and a neuroblastoma tumour.

Amplified cellular genes in mammalian cells frequently manifest themselves as double minute chromosomes (DMs) and homogeneously staining regions of chromosomes (HSRs). With few exceptions both karyotypic abnormalities appear to be confined to tumour cells. All vertebrates possess a set of cellular genes homologous to the transforming genes of RNA tumour viruses, and there is circumstantial evidence that these cellular oncogenes are involved in tumorigenesis. We have recently shown that DMs and HSRs in cells of the mouse adrenocortical tumour Y1 and an HSR in the human colon carcinoma COLO320 contain amplified copies of the cellular oncogenes c-Ki-ras and c-myc, respectively. Both DMs and HSRs are found with remarkable frequency in cells of human neuroblastomas. We show here that a DNA domain detectable by partial homology to the myc oncogene is amplified up to 140-fold in cell lines derived from different human neuroblastomas and in a neuroblastoma tumour, but not in other tumour cells showing cytological evidence for gene amplification. By in situ hybridization we found that HSRs are the chromosomal sites of the amplified DNA. The frequency with which this amplification appears in cells from neuroblastomas and its apparent specificity raise the possibility that one or more of the genes contained within the amplified domain contribute to tumorigenesis.

Cell Line↗
PubMedDate not supplied

Age at first pregnancy in relation to age at menarche and year of birth in Caucasian, Japanese, Chinese and part-Hawaiian women living in Hawaii.

A multiple regression analysis was undertaken to examine the relationship between age at first pregnancy and recollected age at menarche and sociological variables in Caucasian, Japanese, Chinese and part-Hawaiian parous women living in Hawaii. The analysis was conducted using the medical history records of 1198 Caucasian, 1770 Japanese, 453 Chinese and 578 part-Hawaiian women. Age at first pregnancy varied significantly among ethnic groups. Initial results showed an apparent heterogeneity among ethnic groups in the effect of age at menarche on age at first pregnancy. Once appropriate controls for the linear and non-linear effects of year of birth were made, the effects of age at menarche on age at first pregnancy no longer varied significantly among ethnic groups. The observed secular trends in age at first pregnancy have varied widely among the four ethnic groups studied and appear unrelated to genetic background.

Adult↗