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Topographic variations in anatomical structures of the anterior neck of children: an ultrasonographic study.

OBJECTIVE: Tracheostomies in children are frequently used for temporary airway support during surgical procedures. In pediatric patients with congenital craniofacial malformations, preoperative assessment of the delicate anatomy of the airway is necessary. The purpose of this study was to assess the ultrasonographic anatomy of the anterior neck with regard to the performance of tracheostomy. STUDY DESIGN: Ultrasonographic investigation was done in 50 pediatric patients (age range, 6 to 15 years) to analyze the relationships among the anatomical structures that are of practical interest with respect to tracheostomy. RESULTS: The data reveal that information concerning variations in anatomical structures lying in the immediate vicinity of the tracheostomy site was readily obtainable with the techniques used. CONCLUSIONS: In pediatric patients requiring tracheostomy for surgical treatment of severe congenital craniofacial malformations, preoperative ultrasonography may be used to diagnose individual anatomical variations at the tracheostomy site.

Adolescent↗

Effects of strain variation, serotype, and structural modification on kinetics for activation and binding of C3 to Cryptococcus neoformans.

Incubation of encapsulated cells of Cryptococcus neoformans in normal human serum leads to activation of the alternative complement pathway and deposition of opsonic fragments of C3 into the capsule. We determined whether the variation in capsular structure that occurs among the four major cryptococcal serotypes was reflected in the kinetics for activation and binding of C3. We also examined the effects on activation kinetics of de-O-acetylation or periodate oxidation of the capsule. Binding kinetics were characterized in terms of the time required to deposit 5% of the maximal amount of C3 on the yeast (t5%), the first-order rate constant for amplification of C3 deposition (k'), and the maximum amount of C3 that could be deposited in the capsule (C3max). Our results showed that variations in the capsular structure that characterized each serotype had no significant influence on C3max but that the rate of C3 deposition depended significantly on the serotype. C3 accumulated at a higher rate on cells of serotypes A and D than on cells of serotypes B and C. There was a significant correlation between capsular volume and C3max, although the relationship was not linear. Periodate treatment of encapsulated cryptococci of all four serotypes led to decapsulation. Periodate-oxidized encapsulated cells displayed kinetics for activation and binding of C3 that were identical to kinetics observed with nonencapsulated cryptococci. Finally, de-O-acetylation led to a significant but relatively minor increase in C3max.

Acetylation↗

Geographic variation and acoustic structure of the underwater vocalization of harbor seal (Phoca vitulina) in Norway, Sweden and Scotland.

The male harbor seal (Phoca vitulina) produces broadband nonharmonic vocalizations underwater during the breeding season. In total, 120 vocalizations from six colonies were analyzed to provide a description of the acoustic structure and for the presence of geographic variation. The complex harbor seal vocalizations may be described by how the frequency bandwidth varies over time. An algorithm that identifies the boundaries between noise and signal from digital spectrograms was developed in order to extract a frequency bandwidth contour. The contours were used as inputs for multivariate analysis. The vocalizations' sound types (e.g., pulsed sound, whistle, and broadband nonharmonic sound) were determined by comparing the vocalizations' spectrographic representations with sound waves produced by known sound sources. Comparison between colonies revealed differences in the frequency contours, as well as some geographical variation in use of sound types. The vocal differences may reflect a limited exchange of individuals between the six colonies due to long distances and strong site fidelity. Geographically different vocal repertoires have potential for identifying discrete breeding colonies of harbor seals, but more information is needed on the nature and extent of early movements of young, the degree of learning, and the stability of the vocal repertoire. A characteristic feature of many vocalizations in this study was the presence of tonal-like introductory phrases that fit into the categories pulsed sound and whistles. The functions of these phrases are unknown but may be important in distance perception and localization of the sound source. The potential behavioral consequences of the observed variability may be indicative of adaptations to different environmental properties influencing determination of distance and direction and plausible different male mating tactics.

Acoustics↗

Individual variation in enamel structure of human mandibular first premolars.

Nine human mandibular first premolars were examined to assess variation in external morphology and enamel structural organization within a tooth type. The relationship of enamel ultrastructure to gross dental morphology was also studied. The teeth were cut in the mesiodistal direction just lingual to the buccal cusp, and etched. Montages were constructed of the cut enamel surface photographed in the scanning electron microscope at 100 X magnification. Parameters were measured and correlation coefficients were calculated for the comparison of various odontometric features. The mesiodistal and buccolingual dimensions were highly correlated and the occlusal thickness of enamel was significantly correlated to crown height but not crown width. Hunter-Schreger bands were less pronounced in fossa areas than at lateral aspects, cusps, or ridges; these bands were directly related to the geometry of the tooth. It was concluded that within this tooth type, there is a large amount of individual variation not only in gross morphology but also in enamel ultrastructure. This result underscores the fact that interspecific comparisons must be made with care.

Bicuspid↗

Variation in renal structure and urine concentrating capacity among ground squirrels of the Spermophilus townsendii complex (Rodentia: Sciuridae).

Renal structure and urine concentrating capacity varied significantly among nine populations of desert ground squirrels representing four closely related taxa. Variation in renal structure was weakly associated with taxonomic grouping. Urine concentrating capacity was not correlated with standard measures of habitat were aridity, but it was correlated with soil salinity. Maximum urine osmolalities for one population from the most saline habitat were among the highest documented for sciurid rodents. Results do not support the hypothesis that hibernating sciurids have poor renal efficiency.

Animals↗

Cell cycle variations in chromatin structure detected by DNase I.

We have recently developed a reproducible method for the use of DNase I as a sensitive probe of chromatin structure (Prentice, D A & Gurley, L R, Biochim biophys acta 740 (1983) 134) [12] and have used this probe to investigate chromatin structure during the interphase of the cell cycle. Chinese hamster cells (line CHO) were synchronized by: (1) mitotic detachment, to obtain M-phase cells; (2) isoleucine deprivation, to obtain G1-phase cells; and (3) sequential use of isoleucine deprivation followed by release into the presence of hydroxyurea, to obtain cells blocked at the start of S phase. The cells were released from the various blocking schemes and nuclei were isolated and digested with DNase I at various times. The digestion kinetics were monitored to detect possible changes in chromatin condensation through the cell cycle. The chromatin was much more accessible to DNase I in G1 phase than in S or G2 phase, with only small variations in structure detected in late G1 and very early S phase. From early S phase up to mitosis, the chromatin became increasingly condensed and inaccessible to DNase I action. These results support the concept of a chromatin condensation cycle during interphase as well as during mitosis.

Animals↗

Patterns of genetic variation in the hypertension candidate gene GRK4: ethnic variation and haplotype structure.

Association studies using single nucleotide polymorphisms (SNPs) have the potential to help unravel the genetic basis of hypertension. Nevertheless, to date, association studies of hypertension have yielded ambiguous results. It is becoming clear that such association studies must be interpreted within the context of the genetic structure of the populations being studied, and patterns of variation within specific genomic regions. With this in mind we analyzed genetic variation in the G protein-coupled receptor kinase 4 (GRK4) gene, a gene whose product has recently been shown to inhibit the dopamine receptor D1 (DRD1) from increasing sodium excretion. We genotyped three previously identified GRK4 SNPs, as well as ten additional SNPs, over 71.6 kb of the GRK4 locus in four populations: African Americans, Asians, Hispanics and Caucasians. Haplotype structure varied among populations, with Hispanics and Caucasians having the most linkage disequilibrium (LD) among SNPs. African Americans had three shorter haplotype blocks, while patterns of markers in the Asian populations demonstrated less LD among markers, a pattern inconsistent with block structure. We observed limited haplotype diversity in each of the four populations, with differing haplotype frequencies among the ethnic groups. We also found substantial evidence for population differentiation, with the largest differences between the African-American and Asian samples with F(ST) values in the upper 90(th) percentile when compared to a genome-wide distribution. However, for all population comparisons, F(ST) values decreased sharply in the 3' region of the gene. This pattern of differentiation among populations is consistent with selection in this part of the gene maintaining similar patterns of variation among otherwise divergent populations. Our results document not only different allele frequencies between populations, but differences in haplotype structure that may be important in evaluating association studies between hypertension and GRK4.

Black or African American↗

Structure related phylogenetic variations in brain gangliosides of vertebrates.

The concentration and composition of brain gangliosides from five brain structures of vertebrate species belonging to the classes of Chondrichthyes, Osteichthyes, Reptilia, Aves and Mammalia were investigated. The complexity of brain ganglioside composition is strikingly reduced over phyletic lines. In lower vertebrates there is only little variation in the ganglioside pattern between the different brain structures, whereas in higher vertebrates differences distinctly occurred. A similarity over phyletic lines of ganglioside pattern was only noted in phylogenetically old brain structures as for instance in the medulla oblongata and the brain stem.

Animals↗

Antigenic variation and the structure of influenza virus glycoproteins.

Influenza is impossible to control by vaccination because of variation in the two surface antigens of the virus, the haemagglutinin (HA) and neuraminidase (NA). This variation is caused by sequence changes in the genes coding these antigens and this review summarizes recent information on the structure of the HA and NA, the way in which these glycoproteins vary and the effects of the changes on the antigenic properties of the virus.

Amino Acid Sequence↗

Molecular approach to the epidemiology of swine vesicular disease: correlation of variation in the virus structural polypeptides with serological properties.

Variation has been observed in the structural polypeptides of swine vesicular disease viruses isolated from the United Kingdom and Hong Kong. Despite the limited number of isolates examined, several distinct polypeptide patterns were obtained when the virus structural proteins were examined by polyacrylamide gel electrophoresis. Isolates from outbreaks in the United Kingdom which were known to be connected gave the same polypeptide pattern, whereas viruses with different polypeptide patterns could not be traced to a common source. The different polypeptide patterns were obtained consistently and were not altered by passage of the virus in tissue culture. In general, isolates with identical polypeptide patterns could not be distinguished by neutralization or antibody blocking tests or by competition radioimmunoassays. However, isolates with different polypeptide patterns could be differentiated by antibody blocking tests or radioimmunoassay. The correlation between the serological tests and the polyacrylamide gel electrophoresis analyses illustrates the value of analyzing structural polypeptides in the epidemiological study of swine vesicular disease.

Animals↗

Fourteen novel genetic variations and haplotype structures of the TYMS gene encoding human thymidylate synthase (TS).

Forty genetic variations including 14 novel ones were found in the human TYMS gene, which encodes thymidylate synthase, in 263 Japanese cancer patients who received 5-fluorouracil (FU)-based chemotherapy. Three novel variations were located within the 28-bp tandem repeat sequence in the 5'-untranslated region (UTR) and were designated 5Rc, 3Rc-ins and 4Rc. Allele frequencies were 0.021 for 5Rc, 0.006 for 3Rc-ins and 0.002 for 4Rc. Other novel variations included -133G>C and -125G>C in the 5'-UTR; IVS1-278G>A, IVS2-68C>T, IVS2-23T>C, IVS4+122_+123insATTG, IVS4-141G>A, IVS5-100A>T and IVS6-111G>A in the introns; and 1244(*302)A>G and 1264(*322)G>A in the 3'-UTR. The allele frequencies were 0.34 for IVS4+122_+123insATTG, 0.042 for -133G>C, 0.011 for IVS4-141G>A, 0.006 for -125G>C, 0.004 for IVS1-278G>A, IVS2-68C>T, 1244(*302)A>G and 1264(*322)G>A, and 0.002 for IVS2-23T>C, IVS5-100A>T and IVS6-111G>A. Using the detected polymorphisms, linkage disequilibrium (LD) analysis was performed, which divided the TYMS gene into three LD blocks. The 28-bp tandem repeat sequence in the 5'-UTR was assigned as Block 2 with a total of 7 alleles. In Blocks 1 and 3, 7 and 19 haplotypes were determined/inferred, respectively. Our findings provide fundamental and useful information for genotyping TYMS in the Japanese and probably other Asian populations.

3' Untranslated Regions↗

Spatiotemporal structure of genetic variation of a spreading plant metapopulation on dynamic riverbanks along the Meuse River.

Long-distance seed dispersal is a crucial determinant of within-population genetic variability and among-population genetic differentiation in plant metapopulations undergoing recurrent local extinctions and (re-)colonization. We investigated the spatial and temporal structure of genetic variation in a metapopulation of Sisymbrium austriacum located along a dynamic river system using dominant AFLP markers. Data on riverbank dynamics and colonization history allowed separating populations based on their age (< or =5 vs >5 years old). Bayesian analysis of population genetic structure indicated that populations were significantly differentiated from each other, but Mantel tests revealed that there was no relationship between pairwise geographic and genetic distances, suggesting that long-distance seed dispersal partly determines spatial genetic structure. Recent populations were less differentiated from each other than old populations. Analysis of molecular variance (AMOVA) indicated that both spatial factors and population age significantly determined genetic diversity, the effects of age being more important than spatial location. Clustering analysis revealed five large clusters, which were related primarily to population age and to a minor extent to geographical location. Our results indicate that the recurrent formation and destruction of riverbank habitats following peak flow events have a large impact on genetic diversity of riparian plant species.

Belgium↗

Haplotype block structures show significant variation among populations.

Recent studies suggest that haplotypes tend to have block-like structures throughout the human genome. Several methods were proposed for haplotype block partitioning and for tagging single-nucleotide polymorphism (SNP) identification. In population genetics studies, several research groups compared block structures across human populations. However, the measures used to quantify population similarity are either less than satisfactory or nonexistent. In this article, we propose several similarity measures to facilitate the comparisons of haplotype structures, namely block boundaries and tagging SNPs, across populations. With these measures, we can more objectively compare haplotype block structures and tagging SNP sets between different populations. In addition, these measures allow us to compare the results of different methods for block partition and tagging SNP identification. When we applied these measures to a real data set on chromosome 10 in 16 worldwide populations, we found that in this genome region: 1) haplotype block boundaries vary among populations, with European and some African populations showing similar boundaries but other populations showing other patterns; 2) tagging SNP sets are generally similar for populations with similar haplotype block structures but differ if the block structures differ; and 3) all but one of the block finding methods we tested yield consistent results, although variations exist regarding consistency. Our tentative results show that at least in the genome region studied, it is unlikely that a common haplotype pattern exists for all human populations: many populations, even in the same geographical region, may have different haplotype patterns.

Chromosome Mapping↗

COREX/BEST server: a web browser-based program that calculates regional stability variations within protein structures.

SUMMARY: Utilizing the user-supplied coordinates of a protein structure, the COREX/BEST Server generates a structural thermodynamic ensemble. This conformational ensemble can then be used to calculate the regional variations in stability of a protein structure, and the stabilities are presented in units of energy (kcal/mol). The regional stabilities, which are calculated at the resolution of individual residues, can be mapped onto the protein structure for visual representation and downloaded from the site in the form of tab delimited text. The site provides an easy to follow summary of the theoretical and algorithmic approaches and provides links to references for more detailed descriptions. AVAILABILITY: The COREX/BEST Server may be accessed through a typical web browser by visiting http://best.utmb.edu/BEST/.

Algorithms↗

Randomly amplified polymorphic DNA analysis of clonal population structure and geographic variation in a freshwater bryozoan.

The randomly amplified polymorphic DNA (RAPD) assay was used to identify genetic polymorphisms in three clonal populations of the freshwater bryozoan, Cristatella mucedo, a species with few useful biochemical genetic markers. Of the 19 decamer oligonucleotide primers screened, 13 gave clear, reproducible RAPD profiles. Clonal population structure was evident, and one clone was dominant at each site. Cluster analysis grouped populations from more distant localities separately (Thames Valley and Norfolk), whereas populations from the Thames Valley clustered together. However, even at the regional scale a high degree of relatedness pertained. This work is one of the first RAPD studies of natural populations, and demonstrates the suitability of the technique for examining population structure and geographic variation in clonal taxa.

Animals↗

Genetic variation and haplotype structure of the ABC transporter gene ABCG2 in a Japanese population.

The ATP-binding cassette transporter, ABCG2, which is expressed at high levels in the intestine and liver, functions as an efflux transporter for many drugs, including clinically used anticancer agents such as topotecan and the active metabolite of irinotecan (SN-38). In this study, to elucidate the linkage disequilibrium (LD) profiles and haplotype structures of ABCG2, we have comprehensively searched for genetic variations in the putative promoter region, all the exons, and their flanking introns of ABCG2 from 177 Japanese cancer patients treated with irinotecan. Forty-three genetic variations, including 11 novel ones, were found: 5 in the 5'-flanking region, 13 in the coding exons, and 25 in the introns. In addition to 9 previously reported nonsynonymous single nucleotide polymorphisms (SNPs), 2 novel nonsynonymous SNPs, 38C>T (Ser13Leu) and 1060G>A (Gly354Arg), were found with minor allele frequencies of 0.3%. Based on the LD profiles between the SNPs and the estimated past recombination events, the region analyzed was divided into three blocks (Block -1, 1, and 2), each of which spans at least 0.2 kb, 46 kb, and 13 kb and contains 2, 24, and 17 variations, respectively. The two, eight, and five common haplotypes detected in 10 or more patients accounted for most (>90%) of the haplotypes inferred in Block -1, Block 1, and Block 2, respectively. The SNP and haplotype distributions in Japanese were different from those reported previously in Caucasians. This study provides fundamental information for the pharmacogenetic studies investigating the relationship between the genetic variations in ABCG2 and pharmacokinetic/pharmacodynamic parameters.

ATP Binding Cassette Transporter, Subfamily G, Mem↗

Effects of English admixture and geographic distance on anthropometric variation and genetic structure in 19th-century Ireland.

The analysis of anthropometric data often allows investigation of patterns of genetic structure in historical populations. This paper focuses on interpopulational anthropometric variation in seven populations in Ireland using data collected in the 1890s. The seven populations were located within a 120-km range along the west coast of Ireland and include islands and mainland isolates. Two of the populations (the Aran Islands and Inishbofin) have a known history of English admixture in earlier centuries. Ten anthropometric measures (head length, breadth, and height; nose length and breadth; bizygomatic and bigonial breadth; stature; hand length; and forearm length) on 259 adult Irish males were analyzed following age adjustment. Discriminant and canonical variates analysis were used to determine the degree and pattern of among-group variation. Mahalanobis' distance measure, D2, was computed between each pair of populations and compared to distance measures based on geographic distance and English admixture (a binary measure indicating whether either of a pair of populations had historical indications of admixture). In addition, surname frequencies were used to construct distance measures based on random isonymy. Correlations were computed between distance measures, and their probabilities were derived using the Mantel matrix permutation method. English admixture has the greatest effect on anthropometric variation among these populations, followed by geographic distance. The correlation between anthropometric distance and geographic distance is not significant (r = -0.081, P = .590), but the correlation of admixture and anthropometric distance is significant (r = 0.829, P = .047). When the two admixed populations are removed from the analysis the correlation between geographic and anthropometric distance becomes significant (r = 0.718, P = .025). Isonymy distance shows a significant correlation with geographic distance (r = 0.425, P = .046) but not with admixture distance (r = -0.052, P = .524). The fact that anthropometrics show past patterns of gene flow and surnames do not reflects the greater impact of stochastic processes on surnames, along with the continued extinction of surnames. This study shows that 1) anthropometrics can be extremely useful in assessing population structure and history, 2) differential gene flow into populations can have a major impact on local genetic structure, and 3) microevolutionary processes can have different effects on biological characters and surnames.

Adult↗

Genetic variation in structure-function relationships for the inbred mouse lumbar vertebral body.

UNLABELLED: Structure-function relationships were determined for L(5) vertebral bodies from three inbred mouse strains. Genetic variability in whole bone mechanical properties could be explained by a combination of the traits specifying the amount, distribution, and quality of the cortical and trabecular bone tissue. INTRODUCTION: Although phenotypically correlated with fracture, BMD may be disadvantageous to use in genetic and biomechanical analyses because BMD does not distinguish the contributions of the underlying morphological and compositional bone traits. Developing functional relationships between the underlying bone traits and whole bone mechanical properties should further our understanding of the genetics of bone fragility. MATERIALS AND METHODS: Microarchitecture and composition of L(5) vertebral bodies (n = 10/strain) from A/J, C57BL/6J, and C3H/HeJ inbred mouse strains were determined using muCT with an isotropic voxel size of 16 mum(3). Failure load, stiffness, and total deformation as a measure of ductility were measured in compression using a noncontact strain extensometer imaging system. A correlation analysis related morphological and compositional bone traits to whole bone mechanical properties. A multivariate analysis identified structure-function relationships for each genotype. RESULTS: No single bone trait accurately explained the genetic variation in mechanical properties. However, a combination of traits describing the amount, distribution, and quality of cortical and trabecular bone tissue explained >70% of the variation in vertebral mechanical properties. Importantly, structure-function relationships were unique among genotypes. CONCLUSIONS: Different genetic backgrounds use different combinations of underlying bone traits to create mechanically functional structures. Using a single complex trait such as BMD or BV/TV as the sole phenotypic marker in genetic analyses may prove to be disadvantageous because of the complex relationship between mechanical properties and the underlying bone traits. Therefore, considering multiple bone traits and the interaction among these bone traits is necessary to understand the relationship between genetic background and complex whole bone mechanical properties.

Analysis of Variance↗