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Biomedical subjects

G Moore

Publications and source records attributed to G Moore.

At least 73 records · Page 4Linked to original sources

A cereal centromeric sequence.

We report the identification of a family of sequences located by in situ hybridisation to the centromeres of all the Triticeae chromosomes studied, including the supernumerary and midget chromosomes, the centromeres of all maize chromosomes and the heterochromatic regions of rice chromosomes. This family of sequences (CCS1), together with the cereal genome alignments, will allow the evolution of the cereal centromeres and their sites to be studied. The family of sequences also shows homology to the CENP-B box. The centromeres of the cereal species and the proteins that interact with them can now be characterised.

Autoantigens↗

Molecular genetic etiology of twin reversed arterial perfusion sequence.

OBJECTIVE: Our purpose was to determine whether the twin reversed arterial perfusion sequence (acardiac anomaly) results from fertilization of the first or second polar body. STUDY DESIGN: Placental or fetal tissue was obtained from nine twin sets discordant for twin reversed arterial perfusion. After deoxyribonucleic acid extraction, the polymerase chain reaction was used to amplify five polymorphic microsatellite repeats. The products were differentiated by polyacrylamide gel electrophoresis, and patterns were compared within twin sets. RESULTS: Deoxyribonucleic acid fingerprinting patterns were identical in all twin sets for all primer pairs. It is calculated that the chance that any of the acardiac twins resulted from fertilization of either the first or second polar body is <4% and the chance that they all resulted from polar body fertilization is <0.001%. CONCLUSION: Twins discordant for the twin reversed arterial perfusion sequence anomaly are monozygous. Our results exclude polar body fertilization as a likely cause of this condition.

Autoradiography↗

Evaluation of a new, integral, whole blood filter (RS2000) system for prestorage leucodepletion of SAG-M red cells.

Residual donor leucocytes are responsible for many adverse transfusion reactions. Prestorage leucodepletion may ameliorate these effects and enhance product quality. We studied a bottom and top (BAT) system incorporating an integral filter for whole blood leucodepletion. Our evaluation assessed leucodepletion efficiency as well as in vitro SAG-M red cell quality and storage characteristics. Sixty-six units of blood were collected; test units into the Optipac-pLuS system and controls into the standard triple pack configuration. Test units were held for 4-6 h at room temperature (rt) or 12-18 h at 4 degrees C. The mean leucocyte counts for the SAG-M red cells in the quality and storage trial were 0.6 x 10(6) (rt hold), 0.05 x 10(6) (4 degrees C hold) and 2500 x 10(6) (controls). We observed no significant differences between the groups for Na+, ATP, 2,3-DPG, glucose, lactate and pH during the 49 d storage. The control group, however, showed a greater increase in haemolysis and K+ with time. Autologous in vivo 24 h red cell recovery, after 42 d storage, was > 75%. Adjustment of processing parameters in subsequent studies gave leucodepleted SAG-M red cells with minimal cell loss (9.19%) plus acceptable haemoglobin content (46-76 g/U) and haematocrit (54-62%). This system achieved > 3.5 log leucodepletion with all but one unit containing < 1 x 10(6) leucocytes. The product quality is good and the system suitable for routine use in blood centres.

Blood Component Removal↗

Modular cosmology.

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Journal Article↗

Conservation of fine-scale DNA marker order in the genomes of rice and the Triticeae.

DNA markers distribute over large chromosomal regions exhibit conservation of order (collinearity) in different cereal species, but it is not known whether this is maintained on a finer scale, i.e. < or = 2 cM. To address this, sets of two or more genetically linked DNA markers were localised to yeast artificial chromosomes containing rice DNA inserts. Linkage analysis of these DNA markers in barley revealed complete correspondence with their genetic order in rice, the distance between linked sequences on rice chromosomes being < 1.6 cM or < or = 1 + 10(6) bp (1 Mb). Thus, DNA markers separated in this range are collinear in rice, barley and, by inference, other members of the Triticeae. These results are discussed with respect to the use of rice as a key system for the isolation of cereal genes.

Base Sequence↗

Molecular analysis of the expression of transthyretin in intestine and liver from trisomy 18 fetuses.

Human trisomy 18 (Edwards syndrome) provides a model for the role that genes on chromosome 18 play in fetal development. Trisomy 18 occurs in approximately 1 in 3000 live births. Despite its compatibility with life in 5% of cases, prolonged survival is rare. Anomalies involve the urogenital, cardiac, craniofacial and central nervous systems. The abnormalities could be caused by the abnormal expression of developmentally important genes on chromosome 18. We have investigated the quantity and localisation of the expression of a candidate gene, transthyretin (TTR), on chromosome 18 at the RNA level in intestine and liver tissues from trisomic fetuses and have compared the expression with normal age-matched fetal tissues. The mRNA level of TTR in 10 to 14-week intestine was the same in trisomy 18 and control tissues. However, overexpression was seen for both trisomy 18 liver and intestine at 20-23 weeks. TTR transports both thyroxine and retinol and is therefore important for normal fetal development.

Adult↗

Refinement of the X-linked cleft palate and ankyloglossia (CPX) localisation by genetic mapping in an Icelandic kindred.

The gene responsible for X-linked cleft palate and ankyloglossia (CPX) has previously been localized to the proximal region of the q arm of the X chromosome in both Icelandic and North American Indian kindreds. In this study, further linkage analysis has been performed on the Icelandic family and has resulted in a significant reduction in the size of the interval containing the mutated gene. A new polymorphism at DXS95, together with DXS1002 and DXS349, defines the proximal boundary of the CPX interval, whereas DXYS1X defines the distal boundary. Multipoint analysis supports this localisation with a peak lod score of 12.7, more than 2 lod score units higher than the next most likely position. In order to assess the physical size of the CPX interval prior to initiating yeast artificial chromosome cloning, metaphase fluorescence in situ hybridisation analysis was performed with the closest flanking markers. The size of the interval between DXS95 and DXYS1X was estimated to be approximately 2-3 Mb.

Chromosome Mapping↗

Organization of retro-element and stem-loop repeat families in the genomes and nuclei of cereals.

Sequences homologous to the retro-element BIS-1 and the stem-loop repeat Hi-10 are present in the genomes of a number of cereal species. A detailed characterization of these elements indicated that they are non-randomly organized in the genomes of at least two of these species, namely barley and rye. In contrast to the BIS-1 retro-elements, the stem-loop repeats are also non-randomly organized into discrete domains in interphase nuclei from barley and rye. Features of the organization of these repeats along chromosomes and within interphase nuclei of rye, barley and rice are discussed.

Base Sequence↗

Cereal genome evolution: pastoral pursuits with 'Lego' genomes.

The rapid progress in comparative analysis of cereal genomes reveals that they are composed of similar genomic building blocks. It seems that by simply rearranging these blocks and amplifying some of the repetitive sequences contained within them, it is possible to reconstitute the 56 different chromosomes found in wheat, rice, maize, sorghum, millet and sugarcane. Comparison of the orders of blocks in these reconstituted chromosomes reveals that the cleavage of a single chromosome formed from the blocks could give rise to all the combinations found in the chromosomes of the above species. A framework is now in place for collating all the information which has been generated from studying the individual cereals.

Biological Evolution↗

JNK2 contains a specificity-determining region responsible for efficient c-Jun binding and phosphorylation.

The transcriptional activity of c-Jun is augmented through phosphorylation at two sites by a c-Jun amino-terminal kinase (JNK). All cells express two distinct JNK activities, 46 and 55 kD in size. It is not clear which of them is the more important c-Jun kinase and how they specifically recognize c-Jun. The 46-kD form of JNK was identified as a new member of the MAP kinase group of signal-transducing enzymes, JNK1. Here, we report the molecular cloning of the 55-kD form of JNK, JNK2, which exhibits 83% identity and similar regulation to JNK1. Despite this close similarity, the two JNKs differ greatly in their ability to interact with c-Jun. JNK2 binds c-Jun approximately 25 times more efficiently than JNK1, and as a result has a lower Km toward c-Jun than JNK1. The structural basis for this difference was investigated and traced to a small beta-strand-like region near the catalytic pocket of the enzyme. Modeling suggests that this region is solvent exposed and therefore is likely to serve as a docking site that increases the effective concentration of c-Jun near JNK2. These results explain how two closely related MAP kinases can differ in their ability to recognize specific substrates and thereby elicit different biological responses.

Amino Acid Sequence↗

A family of related sequences associated with (TTTAGGG)n repeats are located in the interstitial regions of wheat chromosomes.

A family of related sequences associated with (TTTAGGG)n repeats has been cloned from the wheat cultivar Chinese Spring. These sequences reveal a high level of polymorphism between wheat varieties when used as restriction fragment length polymorphism (RFLP) probes. Although this family of sequences contains motifs homologous to the repeats in the telomeres of wheat, they are located at interstitial sites on wheat chromosomes.

Blotting, Southern↗

The case for case-mix adjustment in practice profiling. When good apples look bad.

OBJECTIVE: To assess the influence of patient characteristics on practice profiling. Using the example of specialty referrals by primary care physicians, we evaluated the impact of adjusting for patient characteristics (age/sex vs case mix) on the estimation of practice variation, the identification of outlier practices, and the evaluation of potential predictors of variation. DESIGN AND SETTING: We applied several measurement strategies to a retrospective cohort of patients (N = 37,830) within 52 physician practices in a large staff-model health maintenance organization during a 1-year period. OUTCOME MEASURES: We calculated unadjusted referral rates and adjusted standardized referral ratios for each physician. Using these, we determined coefficients of variation and statistical "outlier status." RESULTS: Adjustment for patient characteristics decreased the observed variation in referral profiles, with a decrease of more than 50% in the coefficient of variation. Three quarters of the physicians identified as statistical outliers with use of an age/sex-adjusted measure were no longer identified as such with use of an case-mix-adjusted measure. Several key predictors of unadjusted referral rate (including physician age, practice tenure, site of practice, and extent of laboratory test ordering) dropped out of regression models when the outcome variable was adjusted for patient characteristics. CONCLUSION: Failure to adjust for case mix in physician practice profiles may lead to overestimates of variation and misidentification of outliers. To the extent that unadjusted practice profiles are used for decisions about education, sanctions, or employment, physicians may be subject to inequitable decisions and actions. Misinformation about the causes and extent of practice variation may also lead to misdirection of scarce resources for quality improvement efforts.

Age Factors↗