A genetic study on the relationship between total finger ridge count and its variability

The relationship between mean total finger ridge count (TFRC) and its variability is examined using 43 male and 34 female samples from the State of Andhra Pradesh, India, using the approach of Jantz (1977) to verify the major gene effect. The mean TFRC is found to be inversely and significantly related to its variability barring standard deviation (SD). The F ratios are highly significant and the variation of TFRC due to coefficient of variation (CV) is around 39 per cent. The values of correlations, regressions, F ratios etc., of the present study fully support the hypothesis of major gene effect on TFRC.     

Relationship between finger length and ridge count in patients with Marfan syndrome]

Palmar dermatoglyphs were studied in 38 patients with lens dislocation. The patients were distributed into three groups: Marfan syndrome, mild Marfan syndrome, isolated lens dislocation. Marked arachnodacytyly was observed in the first group. In these patients increase in finger length was positively correlated with the ridge count. Moderate increase in finger length and ridge count was observed in the second group. The relative finger length was lower in patients with isolated lens dislocation than in unaffected persons, though the ridge count did not differ from the control. The relations noted between the finger length and ridge count in Marfan syndrome are in agreement with the suggestion that these two parameters are determined by common cause, namely, the morphogenetic gradient in digital primordia.     

Genetic Significance of the relationship between absolute total finger ridge count and its variability

In order to test the hypothesis of a major gene effect on absolute total finger ridge count (ATFRC), the nature of relationship between mean ATFRC and its variability was evaluated in a series of 47 population samples from India. Regression analysis showed that both the standard deviation and the coefficient of variation are significantly related to mean ATFRC, and about 35% of the variation in ATFRC is explained by the dependent variable coefficent of variation. These results support the hypothesis of a major gene effect on the trait ATFRC.     

Linkage analysis of a model quantitative trait in humans: finger ridge count shows significant multivariate linkage to 5q14.1

The finger ridge count (a measure of pattern size) is one of the most heritable complex traits studied in humans and has been considered a model human polygenic trait in quantitative genetic analysis. Here, we report the results of the first genome-wide linkage scan for finger ridge count in a sample of 2,114 offspring from 922 nuclear families. Both univariate linkage to the absolute ridge count (a sum of all the ridge counts on all ten fingers), and multivariate linkage analyses of the counts on individual fingers, were conducted. The multivariate analyses yielded significant linkage to 5q14.1 (Logarithm of odds [LOD] = 3.34, pointwise-empirical p-value = 0.00025) that was predominantly driven by linkage to the ring, index, and middle fingers. The strongest univariate linkage was to 1q42.2 (LOD = 2.04, point-wise p-value = 0.002, genome-wide p-value = 0.29). In summary, the combination of univariate and multivariate results was more informative than simple univariate analyses alone. Patterns of quantitative trait loci factor loadings consistent with developmental fields were observed, and the simple pleiotropic model underlying the absolute ridge count was not sufficient to characterize the interrelationships between the ridge counts of individual fingers.     

Dermatoglyphics of Easter Islanders analyzed by pattern type,admixture effect,and ridge count variation

The adult Easter Island population was fingerprinted in 1965 as part of an overall study of their human biology. Major findings of the dermatoglyphic analysis are as follows. Digit and bimanuar percentages of patterns (arches, loops, and whorls) were similar to those observed in Europeans. However, in terms of total pattern type distributions, the Islanders had many more whorls and a correspondingly much higher Pattern Intensity Index than those found in European groups. This difference was even present, although in lesser magnitude, in Easter Islanders known to be admixed with Europeans. Corresponding to a high occurrence of whorls, Mean Total Ridge Count (TRC) was also notably high. An association between TRC as a measure of pattern size and incidence of patterns was clearly evident in several groups available for comparison.     

Asymmetry of the a-b ridge count in low-back pain sufferers

Fluctuating asymmetry of paired morphological structures is regarded as a measure of developmental stability. To test whether poorly canalized individuals are highly sensitive to postnatal environmental influence, we accepted the exogenous disease low-back pain as an example of such sensitivity. Asymmetry of the palmar a-b ridge count was examined in 217 males suffering from low-back pain against 300 healthy controls. Low-back pain patients showed significantly higher values of asymmetry indices indicating lower developmental stability. The results suggest that dermatoglyphic asymmetry can mark phenotypes weakly adapted to postnatal stress.     

Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families.

We have characterized and genetically mapped new polymorphic DNA markers in the q27-q28 region of the X chromosome. New informative RFLPs have been found for DXS105, DXS115, and DXS152. In particular, heterozygosity at the DXS105 locus has been increased from 25% to 52%. We have shown that DXS105 and DXS152 are contained within a 40-kb region. A multipoint linkage analysis was performed in fragile-X families and in large normal families from the Centre d'Etudes du Polymorphisme Humain (CEPH). This has allowed us to establish the order centromere-DXS144-DXS51-DXS102-F9-DXS105-FRAX A-(F8, DXS15, DXS52, DXS115). DXS102 is close to the hemophilia-B locus (z[theta] = 13.6 at theta = .02) and might thus be used as an alternative probe for diagnosis in Hemophila-B families not informative for intragenic RFLPs. DXS105 is 8% recombination closer to the fragile-X locus than F9 (z[theta] = 14.6 at theta = .08 for the F9-DXS105 linkage) and should thus be a better marker for analysis of fragile-X families. However, the DXS105 locus appears to be still loosely linked to the fragile-X locus in some families. The multipoint estimation for recombination between DXS105 and FRAXA is .16 in our set of data. Our data indicate that the region responsible for the heterogeneity in recombination between F9 and the fragile-X locus is within the DXS105-FRAXA interval.     

Happy families: a twin study of humour.

The objective of this study was to estimate how much of an individual's appreciation of humour is influenced by genetic factors, the shared environment or the individual's unique environment. A population-based classical twin study of 127 pairs of female twins (71 monozygous (MZ) and 56 dizygous (DZ) pairs) aged 20-75 from the St Thomas' UK Adult Twin Registry elicited responses to five 'Far Side' Larson cartoons on a scale of 0-10. Within both MZ and DZ twin pairs, the tetrachoric correlations of responses to all five cartoons were significantly greater than zero. Furthermore, the correlations for MZ and DZ twins were of similar magnitude and in some cases the DZ correlation was greater than that of the MZ twins. This pattern of correlations suggests that shared environment rather then genetic effects contributes to cartoon appreciation. Multivariate model-fitting confirmed that these data were best explained by a model that allowed for the contribution of the shared environment and random environmental factors, but not genetic effects. However, there did not appear to be a general humour factor underlying responses to all five cartoons and no effect of age was seen. The shared environment, rather than genetic factors, explains the familial aggregation of humour appreciation as assessed by the specific 'off the wall' cognitive type of cartoons used in this study.     

Fluctuation and directional asymmetry of the oppositely orientated finger ridge counts in Bulgarians

In a sample from Northeast Bulgaria (500 males, 500 females) fluctuating and directional asymmetries of the radial and ulnar finger ridge-counts were studied, each sex separately and finger-by-finger. Neither the ridge counts nor their fluctuating asymmetries show any considerable sex difference. In contrast, the curves of the ulnar and radial directional asymmetries, each of them being similarly distributed over the digits in both sexes, are contrasted in males and females. One interpretation is that the sex chromosomes exert a considerable effect upon the mediolateral developmental gradients and so cause a set of well expressed sex differences in the directional asymmetries of the ulnar and radial finger ridge-counts.     

Egg-float ridge number in Anopheles stephensi: ecological variation and genetic analysis

Eight Indian laboratory stocks of Anopheles stephensi Liston could be grouped into three categories with, respectively, 14-22, 12-17 and 9-15 ridges on the egg-floats. The mode number of ridges among the eggs laid by individual females in these stocks was 16-19, 13-16 and 10-14, respectively. The category with the highest egg-float ridge number corresponded with the type-form and the lowest with var. mysorensis Sweet and Rao; the new egg-float category with ridge number modes of thirteen to sixteen was designated as 'intermediate'. All three forms, i.e. type-form, intermediate and myosorensis were observed in semi-urban areas while only intermediate and mysorensis were seen in rural areas. Breeding experiments indicated no post-copulatory barriers between the populations. Likelihood analysis of the results of crosses and back crosses indicated that variation in ridge number is controlled by more than one genetic factor. The stocks with different ridge numbers are best considered as 'ecological variants'.     

Molecular genetics of the fragile-X syndrome: a novel type of unstable mutation.

Fragile-X syndrome, the most common inherited form of mental retardation, has a very unusual mode of inheritance. The disease is caused by a multistep expansion, in successive generations, of a polymorphic CGG repeat localized in a 5' exon of FMR-1, a gene of unknown function. Two main mutation types have been categorized. Premutations are moderate expansions of the repeat and do not cause mental retardation. Full mutations are found in affected individuals and involve larger expansions of the repeat, with abnormal methylation of the neighboring CpG island. The full mutations demonstrate striking somatic instability and extinguish expression of FMR-1. Premutations are changed to full mutation only when transmitted by a female with a frequency that increases up to 100% as a function of the initial size of the premutation. Direct detection of the mutations provides an accurate test for pre- and postnatal diagnosis of the disease, and for carrier detection. A similar unstable expansion of a trinucleotide repeat occurs in myotonic dystrophy.     

Resolution of genetic and uterine environmental effects in a family study of new dermatoglyphic measure: sole pattern ridge counts

The heritability of sole pattern ridge counts was examined in two family studies of endogamous castes from peninsular India. The phenotypes included ridge counts for each of the eight configurational areas separately, all areas combined, and only distal areas combined. Differences in heritability estimates were found between populations as well as among the individual configurational areas. Although some ridge counts do not show familial resemblance, others appear to be moderately heritable. Estimates of h2 range from 0.36 to 0.63 in one family series and from 0.22 to 0.51 in the other. In addition, significant uterine environmental effects were detected in one family series but not in the other.     

varDB: a pathogen-specific sequence database of protein families involved in antigenic variation

Infectious diseases are a major threat to global public health and prosperity. The causative agents consist of a suite of pathogens, ranging from bacteria to viruses, including fungi, helminthes and protozoa. Although these organisms are extremely varied in their biological structure and interactions with the host, they share similar methods of evading the host immune system. Antigenic variation and drift are mechanisms by which pathogens change their exposed epitopes while maintaining protein function. Accordingly, these traits enable pathogens to establish chronic infections in the host. The varDB database was developed to serve as a central repository of protein and nucleotide sequences as well as associated features (e.g. field isolate data, clinical parameters, etc.) involved in antigenic variation. The data currently contained in varDB were mined from GenBank as well as multiple specialized data repositories (e.g. PlasmoDB, GiardiaDB). Family members and ortholog groups were identified using a hierarchical search strategy, including literature/author-based searches and HMM profiles. Included in the current release are>29,00 sequences from 39 gene families from 25 different pathogens. This resource will enable researchers to compare antigenic variation within and across taxa with the goal of identifying common mechanisms of pathogenicity to assist in the fight against a range of devastating diseases. AVAILABILITY: varDB is freely accessible at http://www.vardb.org/