PubMed Health⌕ Search

Biomedical subjects

S K Allen

Publications and source records attributed to S K Allen.

At least 19 recordsLinked to original sources

Rapid prenatal diagnosis of common trisomies: discordant results between QF-PCR analysis and karyotype analysis on long-term culture for a case of trisomy 18 detected in CVS.

OBJECTIVES: QF-PCR analysis can be used as a rapid test to diagnose primary trisomy in prenatal samples. Mosaicism in CVS detected by QF-PCR has previously been reported; however, no case has so far been reported in which the QF-PCR result was completely discrepant to that of the karyotype analysis from a long-term culture. METHODS: A CVS, referred because of a high serum screening risk of 1:10 for Down Syndrome and 1:110 for Edwards Syndrome, was tested by QF-PCR analysis and chromosome analysis of cultured cells. Subsequent analyses were carried out on a follow-up amniotic fluid sample and foetal tissue samples. RESULTS: Conflicting results were obtained between QF-PCR analysis on two independent fronds from the chorionic villi and chromosome analysis on cultured CVS. Cytogenetic and molecular analysis on a subsequent amniotic fluid sample indicated trisomy 18 with no evidence of mosaicism. Analysis of follow-up tissue confirmed trisomy in a foetal skin sample and mosaicism for trisomy 18 in four placental sites tested. CONCLUSION: We report here an apparently normal CVS QF-PCR result that was completely discrepant with the trisomy 18 positive karyotype result on long-term culture. This has important implications regarding our current testing protocol.

Adult↗

2-Nitrobenzaldehyde: a convenient UV-A and UV-B chemical actinometer for drug photostability testing.

We report the development of a new 'photochemical titration' actinometric method for measurement of UV-B (290-320 nm) and UV-A (320-400 nm) light dose during drug photostability testing. It is based upon photolysis of aqueous 2-nitrobenzaldehyde solution, a well-characterized reaction that has been previously demonstrated to be useful as an accurate and reliable actinometric method. Our new method can be performed by a chemical technician using only common reagents. It has been developed for use with xenon arc lamp illumination chambers which are commonly employed for drug photostability testing, but can be readily modified for use with the other illumination sources.

Benzaldehydes↗

Spatial partitioning of host habitat by chewing lice of the genera Geomydoecus and Thomomydoecus (Phthiraptera: Trichodectidae).

Chewing lice, Geomydoecus and Thomomydoecus, coexist on pocket gophers, Thomomys spp. We investigated the spatial distribution of the 2 genera on their hosts and explored possible mechanisms of resource partitioning by chewing lice. Chewing lice appear to partition available host resources spatially, with Geomydoecus occurring primarily on the lateral and dorsal regions of the host, and Thomomydoecus occurring primarily on the lateral and ventral regions. Although spatial partitioning of the host habitat is evident, it does not appear to be explained by hair diameter. Spatial partitioning of the host's body could be the result of some other factor, possibly temperature or humidity gradients of the host's body.

Animals↗

Photochemical formation of singlet molecular oxygen ((1)O2) in illuminated 6-methylcoumarin solutions.

Use of the fragrance 6-methylcoumarin (6-MC) in cosmetic products has declined significantly due to numerous reports of photoallergic contact dermatitis associated with its use. We have determined that 6-MC undergoes direct photolysis with an estimated half-life of 83 minutes when illuminated with mid-latitude U.S., noon-centered, equinox sunlight and a quantum yield for photolysis at 313 nm of phi = 3 x 10(-3). The work presented here also provides evidence that singlet molecular oxygen ((1)O2) is formed in illuminated solutions containing 6-MC. An estimated value of phi = 0.01 is reported for the (1)O2 quantum yield at 313 nm. Formation of (1)O2 is significant because it is known to react with a variety of biomolecules and it is possible that (1)O2 formation is at least partially responsible for reports of 6-MC photoallergenicity and phototoxicity.

Coumarins↗

Sex and meiosis in autotetraploid Pacific oyster, Crassostrea gigas (Thunberg).

Sex and meiosis were studied in induced autotetraploids of the Pacific oyster (Crassostrea gigas Thunberg) and were compared with sex and meiosis in autotriploids and normal diploids. Tetraploid oysters reached sexual maturity at 1 year of age in an approximately 1:1 sex ration. In contrast with the abnormally high frequency of hermaphrodites among triploids, tetraploids had about the same level of hermaphrodites as normal diploids. Fecundity of tetraploids was comparable to that of normal diploids, differing from the greatly reduced fecundity of triploids. Homologous chromosomes synapsed predominantly as trivalents in eggs from triploids and as quadrivalents in eggs from tetraploids. After fertilization, eggs from tetraploids and triploids went through two meiotic divisions, as normal eggs did. The average gamete chromosome number was 10.0 for diploids and 19.9 for tetraploids. The distribution of gamete chromosome numbers from triploids suggested that the extra chromosome in the trivalent segregated randomly during anaphase I. In tetraploids, however, the two extra chromosomes in the quadrivalents did not segregate independently and, instead, they preferentially cosegregated to opposite poles producing balanced gametes. These results suggest that mechanisms may exist to weight, balance, and equally distribute quadrivalents, possibly through mitotic force and tension. Errors in chromosome balancing in normal meiosis may result in nondisjunction, which is the primary cause of human aneuploidy.

Animals↗

Production of transgenic dwarf surfclams, Mulinia lateralis, with pantropic retroviral vectors.

A pantropic pseudotyped retroviral vector containing the envelope protein of vesicular stomatitis virus was used as a gene transfer vector in the dwarf surfclam, Mulinia lateralis. These pantropic retroviral vectors have an extremely broad host cell range and can infect many nonmammalian species. Newly fertilized dwarf surfclam eggs were electroporated at 700 V in the presence of 1 x 10(4) colony-forming units of pantropic pseudotyped retroviral particles. Infection was well tolerated and did not affect the survival rate of the embryos. Gametes collected from P1 presumptive transgenic animals were analyzed for the presence of provirus by PCR, and in different experiments 13-33% of the gamete pools were positive for the transgene. Dot blot hybridization of DNA samples from the F1 offspring of two different crosses between infected P1 and wild-type individuals revealed that 28% and 31% of F1 offspring were transgenic, respectively. Southern blot analysis of DNA isolated from PCR-positive F1 animals confirmed integration of a single copy of the provirus into the host genome. Thus, the germ lines of these two P1 transgenic animals were mosaic for the transgene. Expression of beta-galactosidase encoded by the provirus was detected in transgenic but not control surfclam embryos. Pantropic pseudotyped retroviral vectors provide a useful method for the stable introduction of foreign genetic information into surfclams and may facilitate the introduction of desirable genetic traits into commercially important shellfish and crustaceans.

Animals↗

Complete interference and nonrandom distribution of meiotic crossover in a mollusc, Mulinia lateralis (Say).

In gene mapping, the genetic distance between two genes is measured by the frequency of meiotic crossovers occurring between them. It is generally assumed that there is more than one crossover per chromosome, and the distribution of crossovers along chromosomes is random and follows a Poisson distribution (no interference), or that interference is inversely correlated with distance. Although those assumptions may be correct for some organisms, we report here a novel exception in the marine mollusc Mulinia lateralis Say. Using segregation analysis of gynogenetic diploids, we found surprisingly high gene-centromere recombinant frequencies for most of the 13 allozyme loci studied. For at least six loci, there was always one and only one crossover occurring between the gene and its centromere, suggesting complete interference where the occurrence of one crossover completely suppressed the occurrence of another. The complete interference was confirmed by the cytogenetic observation that there was only one chiasma for all bivalents. Further, sites of the single crossover seem not to be randomly distributed along chromosomes, but preferentially located in a recombination hot-region proximal to the centromere. The restricted distribution of a single crossover per chromosome provides one explanation for the unique phenomenon of heterozygote deficiency in M. lateralis and other molluscs.

Animals↗

Rapid reaction of singlet molecular oxygen (1O2) with p-aminobenzoic acid (PABA) in aqueous solution.

The reaction of singlet molecular oxygen (1O2) with p-aminobenzoic acid (PABA) is quite rapid. The rate constant for reaction of 1O2 with PABA was measured in buffered aqueous solution by the method of competition kinetics and found to be 8.9 x 10(8) M-1 sec-1. The results of a Stern-Volmer analysis indicate that additional loss of 1O2 does not occur through physical quenching by PABA. Although illuminated PABA solutions are known to form 1O2, it appears that PABA is also a very efficient sink for 1O2.

4-Aminobenzoic Acid↗

Sex determination and polyploid gigantism in the dwarf surfclam (Mulinia lateralis Say).

Mulinia lateralis, the dwarf surfclam, is a suitable model for bivalve genetics because it is hardy and has a short generation time. In this study, gynogenetic and triploid M. lateralis were successfully induced. For gynogenesis, eggs were fertilized with sperm irradiated with ultraviolet light and subsequently treated with cytochalasin B to block the release of the second polar body (PB2). Triploidy was induced by blocking PB2 in normally fertilized eggs. The survival of gynogenetic diploids was very low, only 0.7% to 8 days post-fertilization (PF), compared with 15.2% in the triploid groups and 27.5% in the normal diploid control. Larvae in all groups metamorphosed at 8-10 days PF, and there was no significant post-larval mortality. At sexual maturation (2-3 months PF), all gynogenetic diploids were female, and there was no significant difference (P > 0.05) in sex ratio between diploids and triploids. These results suggested that the dwarf surfclam may have an XX-female, XY-male sex determination with Y-domination. Compared with diploids, triploids had a relative fecundity of 59% for females and 80% for males. Eggs produced by triploid females were 53% larger (P < 0.001) in volume than those from diploid females. In both length and weight measurements at three months PF, the gynogenetic diploids were not significantly (P > 0.33) different from normal diploid females, suggesting that inbreeding depression was minimal in meiosis II gynogens. Triploid clams were significantly larger (P < 0.001) than normal diploids. We hypothesize that the increased body-size in triploids was caused by a polyploid gigantism due to the increased cell volume and a lack of cell-number compensation.

Animals↗

Horizontal sound localization skills of unilaterally hearing-impaired children.

The present study assessed the horizontal sound localization skills of three groups of subjects; normal-hearing adults, normal-hearing children, and unilaterally hearing-impaired children. The ability of these subjects to localize pure tones to 500 and 3000 Hz in quiet and in a background of cafeteria noise was evaluated using an array of thirteen loudspeakers mounted in a large anechoic chamber. Results indicated a significant effect of signal frequency in all three groups of listeners. In addition, the hearing-impaired children performed significantly poorer than their normal-hearing counterparts in all conditions. Individual differences in sound localization ability among the hearing-impaired listeners could be explained largely through effects of age and degree of hearing impairment.

Adolescent↗