Sensory discrimination and its role in the evolution of Batesian mimicry.
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Animals↗
Biomedical subjects
C J Duncan
Publications and source records attributed to C J Duncan.
Excitatory mechanisms in chemo- and mechanoreceptors.
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Cell Membrane Permeability↗
The prenatal detection of the fragile X chromosome: review of recent experience.
The fragile X chromosome has been identified in specimens from 17 male and 10 female fetuses in 11 laboratories throughout the world, obtained from at least 79 fetuses at increased risk for the fra(X) syndrome. Of these, 19 were confirmed, 6 were pending, 1 was negative and 1 could not be confirmed. Twenty-five of the 79 cases were studied in our laboratory (Institute for Basic Research [IBR]) and resulted in fra(X) demonstration in specimens from 3 male and 5 female fetuses. All 3 males and 2 of the 5 females have been confirmed. When amniocytes from the two confirmed female fetuses were exposed to FUdR after culturing in Chang medium, fra(X) frequencies were virtually negative indicating that Chang medium should not be used in fragile X studies at least when FUdR is used to induce fragility. Finally, amniocytes from a fra(X) male fetus studied in 3 different laboratories exhibited strikingly different frequencies. To date, we have experienced no false-positives or negatives, but the latter case was controversial. It is recommended that laboratories undertaking fra(X) prenatal detection use a combination of at least two different proven induction systems as well as complementary DNA marker studies to prevent false negative diagnosis.
Amniocentesis↗
Frequency of tri- or multiradial configurations in fragile X identification.
Using the FUdR system for fragile X induction, we have observed no triradial or bisatellited configurations at fra (X) (q27.3) in over 5,000 fra(X) chromosomes examined from over 150 fra(X) individuals. Based on our observations, and those of Turner and Jacobs (1983) and Daniel et al (1984), we hypothesize that triradial configurations may not occur at Xq27 with FUdR induction. To test this hypothesis we cultured whole blood simultaneously in parallel folate-deficient and FUdR fra(X) induction systems, and systematically examined fra(X) chromosomes for triradials. Neither autosomes nor X chromosomes exhibited any apparent triradial figures in the FUdR system, while 1.4% of the fra(X) chromosomes in TC 199 exhibited a triradial. Also we observed one autosomal triradial at 4q35. We conclude that triradial configurations occur in low frequencies in the folate deficient system and seldom if ever in the FUdR system.
Chromosome Fragility↗
Recent experience in prenatal fra(X) detection.
At least 35 cases of prenatal fra(X) diagnosis have been confirmed and reported. Amniotic fluid, fetal blood and chorion -ic villus samples have exhibited fra(X) (q27.3) in cultures from 26 males and 9 females. Here we have detected fra(X) in female and male amniotic fluid specimens, AF1/fra(X),X and AF2/fra(X),Y, respectively, and a male CVS/fra(X),Y using both FUdR and excess thymidine (THY) to demonstrate the marker chromosome. Both FUdR and THY detected fra(X) and usually FUdR was superior to THY with the exception of placental cultures. It was important to examine more than one culture per protocol since no fra(X) was observed in one AF2 FUdR culture while another exhibited 19.2% expression. Similarly, confirmation studies in lung fibroblast cultures for AF2 exhibited 4.3% fra(X) in one lab while another found negative results. A similar observation in whole blood cultures was also made recently by us. In addition, we have recently experienced our first false negative fra(X),X prenatal diagnosis. We have observed another case where only one cell in 300 exhibited fra(X) where the male fetus was 50% at-risk and was referred to us after the 20th week of gestation by sonography. On the basis of our experience we recommend the following: 1) the excess THY fra(X) induction system is effective but not superior to FUdR; 2) at least two duplicate cultures per induction system should be analyzed for the marker chromosome to avoid the possibility of false-negative diagnosis; 3) where fra(X) is not demonstrated or is present in very low frequencies in CVS and/or amniotic fluid cultures, complementary DNA marker studies and/or fetal blood cultures must be made available; 4) gestational age dating by ultrasonography is recommended as early as possible.
Amniocentesis↗
Constitutive fragile sites in fra(X) individuals.
Recently, it was proposed that the constitutive fragile site at 3p14 be used as an "internal control" to indicate the effectiveness of the FUdR fragile site induction system. We have tested this hypothesis by determining the frequency of constitutive fragile sites at 1p31, 3p14, and 16q23 in cultures from 42 known fra(X) individuals. At least 50 cells were analyzed from each case. Seventy-four percent (31/42), 95% (40/42) and 90% (38/42) of the fra(X) individuals exhibited frequencies of less than 4% at constitutive fragile sites 3p14, 1p31 and 16q23, respectively. Of the 42 individuals tested, 12 or 28.6% showed no fragility at any of the 3 sites studied. On the other hand, at least one constitutive fragile site was observed in 50 cells studied from over 70% of the 42 people studied. It is suggested that "positive controls" continue to be used, while at the same time recording all fragile sites to identify a combination of constitutive fragile sites that may serve as an internal control indicator, and that DNA marker studies be used to complement cytogenetic testing.
Chromosome Fragile Sites↗
Improved prenatal detection of fra(X)(q27.3): methods for prevention of false negatives in chorionic villus and amniotic fluid cell cultures.
The reliable detection of fra(X)(q27.3) in prenatal samples is important for providing genetic counseling. We have identified 5 new cases of prenatal fragile X [fra(X)] detection in 3 chorionic villus sample (CVS) and 2 amniotic fluid (AF) cell cultures. In 4 of the 5 cases, either excess thymidine (THY) or a combination of THY and 5-fluorodeoxyuridine (FUdR) was clearly superior to FUdR alone as fra(X) inducers. Amniocytes from one case were cultured only in RPMI-1640 and later exposed to FUdR or THY separately. They showed only 2% fra(X) while parallel cultures initiated in Chang medium and incubated in RPMI for at least 7 days (recovery) before fra(X) induction exhibited strikingly increased fra(X) frequencies. Chang medium alone will not allow fra(X) induction in AF (Jenkins EC, Brown WT [1986]: "Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment." New York: Plenum Press, pp 185-204). Now, using CVS cells, we report that only 1% and 0% fra(X) were detected using FUdR or THY in cells cultured in RPMI for 4 days after removal from Chang medium. Cells with 7 days "recovery" in RPMI exhibited increases from 2 to 6%. Therefore, we have found that Chang medium is very helpful when the appropriate recovery time in another medium is allowed before fra(X) induction. Some false negative reports can be attributed to: induction in Chang medium alone; lack of sufficient recovery time after initiating cells in Chang before induction; and unavailability of the excess THY fra(X) induction system.(ABSTRACT TRUNCATED AT 250 WORDS)
Amniocentesis↗
Distribution of autosomal fragile sites in specimens cultured for prenatal fragile X diagnosis.
We reviewed the distribution of autosomal fragile sites (FS) and spontaneous chromosome breaks or gaps (CB) at chromosome locations other than those recognized as FS from 100 amniotic fluid samples (AF), 19 chorionic villus samples (CVS), and 5 percutaneous umbilical blood samples (PUBS) referred for fragile X [fra(X)] analysis. We present data on the degree of expression of autosomal fragility in AF, CVS, and PUBS samples, and the relationship between degree of expression and induction system. The most common observed FS were: 3p14, 9p32, and 6q26 in AF; 9q32, 3q27, and 8q22 in CVS; and 3p14, Xq22, and 16q23 in PUBS cases. Distribution of FS and CB, when compared by induction system, was not found to be identical. Our data also indicate that the presence of any particular FS cannot be used as an indicator for the effectiveness of the fra(X) induction system in prenatal samples.
Amniotic Fluid↗
SV40-transformed fragile (X) amniocytes.
We report SV-40 transformation of female and male fragile X [fra(X)] amniocytes. In the transformants, fra(X) (q27.3) was detected in the 7th passage (9 cell generations) in fra(X) female amniocytes. It was conserved until at least the 20th passage (42 cell generations) although the frequency was reduced or became difficult to detect due to karyotypic evolution in the later generations. Similarly, for the male fra(X) amniocyte line, fra(X) was demonstrated at the 2nd passage (3 cell generations) and persisted until at least the 13th passage (29 cell generations). The prolonged period of reproductive potential of these transformed lines ranging from at least 29-42 generations suggests that the cryopreservation of significant quantities of early passage fra(X) transformed amniocytes will assure a reliable and continuous supply of positive control cells. These lines may be used for fra(X) prenatal diagnostic studies thereby improving the ability to quality control the particular fra(X) induction system being used.
Amniotic Fluid↗
Fra(X)(q27.2), the common fragile site, observed in only one of 760 cases studied for the fragile X syndrome.
Cell cultures from 760 whole blood, amniotic fluid, chorionic villus sample, and peripheral umbilical blood sample specimens were exposed to multiple fra(X)(q27.3) induction systems (none had aphidicolin). Fifty-three exhibited the rare fragile site, fra(X)(q27.3) or FRAXA, none of which demonstrated the common fragile site or FRAXD at band Xq27.2. Only one cell in one of the negative whole blood FUdR-treated cultures from a mentally retarded male showed FRAXD. Therefore, it appears that FRAXD occurs very rarely in cultures treated to induce FRAXA since only one positive cell was observed in over 88,000 analyzed. It appears that very low frequencies of fra(X)(q27) can be accounted for only in part by the presence of the common fragile site since only one of 9 cases, each with one fra(X)(q27) positive cell, exhibited FRAXD and the others were FRAXA. After confirmation of FRAXA with direct DNA testing in a large number of low frequency cases, it should be possible to rely on the detection of very low frequencies of fra(X)(q27.3), e.g., 1% with at least 2 positive cells.
Amniotic Fluid↗
Fra(X) prenatal diagnosis: are endoreduplicated and polyploid cells useful diagnostic criteria?
Cytogenetic and molecular protocols for prenatal ascertainment of the fragile X syndrome and the associated fragile site at Xq27.3 are relatively reliable. Any new diagnostic method which becomes available still elicits much interest. Kimchi-Sarfaty et al. [1991] reported an increase in frequency of endoreduplication and polyploidy in fra(X) lymphoblasts and amniocytes when cultured with methotrexate (MTX) or fluorodeoxyuridine. Recently we analyzed the endoreduplication/polyploidy system using amniotic fluid, chorionic villus, and fibroblasts from fra(X) positive abortus cell cultures and from control samples. We observed no increased expression of endoreduplicated or polyploid cells in fra(X) positive amniocytes after exposure to MTX. The data presented here clearly dispute the value of endoreduplication/polyploid scoring as a diagnostic aid in prenatal fra(X) analysis.
Chromosome Aberrations↗
Dialyzed fetal bovine serum increases cytogenetic fragile X expression.
UNLABELLED: Short-term whole blood cultures from 9 unrelated male individuals with the fragile X [fra(X)] syndrome were exposed to 5-fluorodeoxyuridine (FUdR). The fra(X) frequency was higher in 8 of 9 cases where the complete medium contained dialyzed fetal bovine serum (DFBS). In 3 of the cases, the fra(X) frequency nearly tripled (e.g., 12/100 to 33/100) while in 2 others, it nearly doubled (e.g., 15/100 to 29/100). When DFBS cultures from 2 other fra(X) individuals were exposed to increasing folic acid concentrations ranging from 2 to 4,000 x 10(-6) M, there was virtually no change in fra(X) expression. In 6 of 9 DFBS cultures, the mitotic index decreased, and it increased in 3. Therefore, although the fra(X) frequency increased, in most DFBS cultures the mitotic index decreased. Whether the reduction in mitotic index indicates an inverse correlation between reduced mitotic index and increased fra(X) expression, at least in cultures from some individuals, will be determined by additional studies. IN CONCLUSION: (1) medium supplementation with dialyzed fetal bovine serum should be considered when using FUdR for fra(X) identification in order to avoid potentially false negative results; (2) there appears to be no direct correlation between increased mitotic index and increased fra(X) expression in whole blood cultures; (3) increased folic acid concentrations do not affect fra(X) expression when FUdR fra(X) induction is employed; therefore requesting people to refrain from taking vitamins, including folic acid, before fra(X) testing (a practice that still persists in some places) appears unnecessary.
Animals↗
Human population dynamics.
Time-series analysis of parish register series can be used to study human population dynamics at three different levels: (i) The metapopulation of preindustrial rural England. A short wavelength, exogenous oscillation in the burials series of 404 parishes can be detected which, it is suggested, was driven by a cycle of malnutrition associated with wheat prices. (ii) Individual populations, where long-term endogenous oscillations in baptisms and burials of wavelength 30-32 years or 43-44 years can be detected. Their characteristics and causes are explored and elucidated by matrix modelling. (iii) The separate neonatal, post-neonatal, child and adult mortalities in an individual population each show an exogenous short wavelength oscillation and a model is presented to show how these cycles were driven by an oscillation in grain prices and how they interacted. Together, they formed the feedback in a saturated, density-dependent population which was fundamental in controlling the characteristics of the longer wavelength endogenous oscillations in the population dynamics described above.
England↗
The plague in Penrith, Cumbria, 1597/8: its causes, biology and consequences.
Using a family reconstitution study the biology of the plague in Penrith, Cumbria in 1597/8 is described in detail; it was an explosive epidemic that spread rapidly within families and 606 individuals died of the plague, some 40% of the population. The age-specific mortality corresponded with the calculated age structure of the population and infection appeared to be random. The sex ratio of victims was 1.37 females to 1 male. The plague spread from the northeast via Richmond and then exploded in the Eden valley, appearing almost simultaneously in Penrith, Kendal and Carlisle. The details of the epidemics and the location and the climate of these widely separated small market towns show that bubonic plague was not the causative agent, and the possibility that anthrax was responsible for the drastic mortality is briefly considered. The population rapidly built up after the plague, largely by immigration and not by increased fertility, and steady-state conditions were re-established within 5 years and continued for 150 years. This severe mortality crisis of the plague had a profound effect on the population at Penrith, triggering long wavelength oscillations in both baptisms and burials in this population living under marginal conditions and maintained in steady-state by density-dependent factors.
Age Factors↗