Inter-sex and intra-sex differences in quantitative digital dermatoglyphics of Sardinian-speaking groups

In this study, we analysed inter-sex differences within two linguistic groups from the Sardinian linguistic area and intra-sex differences between the two groups by means of 41 quantitative digital dermatoglyphic variables: 20 digital dermatoglyphic traits (radial and ulnar ridge counts on each of the 10 fingers), 15 digital dermatoglyphic directional asymmetry variables, total finger ridge count, bilateral summed radial and ulnar finger ridge counts, an index of asymmetry between homologous fingers, and two indices of intra-individual diversity of finger ridge counts. The comparisons between males and females within the same linguistic groups and between the males of the two groups and the females of the two groups were carried out with the Mann-Whitney test at a prefixed level of alpha = 0.05, using the Bonferroni correction for multiple comparisons. The results indicate a strong similarity of the two linguistic groups in the inter-sex differences, whereas there are no significant differences between them for either males or females. The similar pattern of sexual dimorphism and the homogeneity of the males and females of the two groups suggest a common genetic matrix of these Sardinian-speaking groups.     

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.     

Quantitative digital dermatoglyphics in males and females of four Sardinian linguistic groups

Radial and ulnar ridge counts on each of the 10 fingers, total finger ridge count, bilateral summed radial and ulnar finger ridge counts, an index of asymmetry between homologous fingers and two indices of intraindividual diversity of finger ridge counts were used to identify biological relationships among Sardinian linguistic groups. Stepwise discriminant analysis of 26 digital traits of 1258 Sardinians, 647 females and 611 males, was carried out. The results indicate high intergroup heterogeneity; moreover, with p≤0.01 as F-to-enter and p≤0.05 as F-to-remove, only 5 of the 26 digital variables are in the model (URC R5, RRC L5, RRC R5, URC R4, URC L5). The pattern of interpopulation biological relationships shows a clearly distinct position of the Gallurian group (both males and females), which speaks an Italian dialect. It originated mainly from Corsican immigration to the Gallura region starting from the XVII century. While the properly Sardinian linguistic groups (Campidanian and Logudorian) and the Sassarian group, which speaks an Italian dialect that developed as a “lingua franca” during the Middle Ages (XII–XIV centuries) due to linguistic contact between Sardinians and Italians, are positioned close to one another. This pattern agrees more with the ethno-historical back-ground than with the linguistic one.     

A family study of dermatoglyphic traits in India: resolution of genetic and uterine environmental effects for palmar pattern ridge counts

The inheritance of palmar pattern ridge counts for individual palmar areas, combined distal areas, and all ten areas combined was investigated in families belonging to two strictly endogamous Brahmin castes of peninsular India. Ridge count phenotypes were obtained by the method proposed by Malhotra et al. (1981a), however, zero observations (indicating patterns not circumscribed by triradii) were excluded from analysis. Path analytic methods were applied in order to determine the relative influences of polygenes, intrauterine environment, and residual environment. The proportion of genetic variation was, in general, consistently greater in one population than the other, and significant intrauterine environmental effects were detected for the population with lower heritabilities. The results of this investigation suggest that a simple polygenic model may not be sufficient to explain the inheritance of ridge counts in the interdigital IV configurational area. Distal pattern ridge counts do not appear to be influenced by more or less uterine environmental effects than all areas considered together. The proportion of genetic variation for the total palmar pattern ridge count was 52% in both populations.     

Genetic parameters of dermal patterns of ridge counts.

Dermatoglyphic traits including ridge counts and pattern type counts on fingers were studied in 711 families representing six racial groups in Hawaii. Heritability tesimates were derived from regressions of offspring on father, mother and mid-parent values as well as from full-sib correlations. These estimates varied from 0.23 for radial loops to 0.80 for total ridge count. The heritability estimates were lower for ridge counts of single hands or single digits.     

Digital dermatoglyphics of 107 Bengalis.

I analyzed the finger prints of 59 male and 48 female unrelated Bengalis in a rehabilitation camp of Dacca, Bangladesh. The most common pattern type in the Bengalis was the ulnar loop (53%), then whorls (40%); arches (5%) and radial loops (2%) were the least common. Radial loops occurred most frequently on the index fingers. I have shown the arch/whorl, whorl/loop, and pattern intensity indices, and I have presented ridge counts by individual digits and by total digital ridge count. Digital dermatoglyphics in the male Bangladeshis were similar to previous findings in male Brahmins of Bengal. However, there were more whorls and arches, fewer loops, and a higher mean total digital ridge count in the female Bangladeshis than in female Brahmins.     

A family study of dermatoglyphic traits in India: a search for major gene effects on palmar pattern ridge counts

Palmar pattern ridge counts were subjected to segregation analysis in an attempt to identify possible major gene effects on these dermatoglyphic traits. The phenotypes considered were total palmar pattern ridge count, and ridge counts for the right interdigital III and IV and left interdigital IV individual palmar areas (sample sizes were too small for the other palmar areas). Evidence of familial resemblance was found for all of the phenotypes studied, and initial evidence for a major effect was found for all but the right palm interdigital III ridge count. However, this initial evidence could be attributed to nongenetic effects in each case, including skewness in the trait distribution. Tests for agreement with Mendelian transmission frequencies were found to be very useful in discriminating between a non-Mendelian major effect and a major gene. We concluded against a major gene effect for any of these traits, and multifactorial inheritance remains a plausible alternative explanation for the familial resemblance.     

产前超声诊断及漏诊胎儿肢体畸形分析

目的:探讨胎儿肢体畸形超声特征及诊断价值。方法:采用连续顺序追踪法对66342例妊娠12-40周孕妇行胎儿四肢畸形筛查。将产前超声诊断结果与引产或产后结果进行对比分析。结果:发生肢体畸形271例,发生率为0.41%(271/66342),包括四肢短小5例,桡骨发育不全1例,缺肢畸形5例,足内翻17例,手掌畸形3例,指趾畸形222例及骨骼多发畸形18例。其中产前诊断胎儿肢体畸形49例;漏诊222例,包括:足内翻3例、指趾畸形218例、多发骨骼畸形1例。胎儿肢体畸形的出现率和产前检出率分别为:四肢短小1.84%(5/271)、100%(5/5);桡骨发育不全0.36%(1/271)、100%(1/1);缺肢畸形1.84%(5/271)、100%(5/5);足内翻6.27%(17/271)、82.35%(14/17);手掌畸形1.10%(3/271)、100%(3/3);指趾畸形81.91%(222/217)、1.8%(4/222);多发骨骼畸形6.64%(18/271)、94.44%(17/18)。结论:超声对胎儿手掌、脚掌部位以上畸形的检出率较高。指趾畸形出现率最高,但检出率最低。     

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.     

Dermatoglyphic findings in periodontal diseases

The finger-tip palm and sole prints of 13 male and 23 female, a total of 36 patients with juvenile periodontitis (JP) 24 male and 21 female, a total of 45 patients with rapidly progressive periodontitis (RPP) and 19 male and 19 female, a total of 38 patients with adult periodontitis (AP) were compared with those of 17 male and 22 female, a total of 39 periodontally healthy (PH) individuals for the aim of finding a pattern type that would identify those patients. Besides, the finger-tip and palmar patterns of the patients were compared with those of 446 male and 447 female, a total of 833 school children (SC), and the sole patterns of the patients were compared with those of 250 male and 250 female, a total of 500 SC. When, the finger-tip patterns of the patients were compared with those of PH individuals, the decreased frequencies of twinned and transversal ulnar loops on all fingers of the patients with JP, a decreased frequency of double loops on all fingers and an increased frequency of radial loops on the right second digits of the patients with RPP, and the increased frequencies of concentric whorls and transversal ulnar loops on all fingers of the patients with AP, an increased frequency of t″ triradii on the palms of the patients with JP, the increased frequencies of IV and H loops and tb triradii on the palms of the patients with RPP and an increased frequency of e triradii on the soles of the patients with JP were found. In summary, in the light of these findings dermatoglyphics could be used together with the other diagnostic methods such as clinical and radiologic investigations and in the identifying of the patients from distinct groups of PD’s.     

Fixed and random effects in the variation of the finger ridge count: a study of fragile-X families.

A maximum-likelihood scoring technique for analysis of pedigree data allows for the concurrent estimation of random and of fixed effects in a quantitative trait. We included both types of effects in genetic models, to study the sources of variation in finger ridge count in 54 large families affected with the fragile-X disorder. The fixed effects were represented by fragile X and sex, and the random effects by environmental and genetic variance. We found a significant effect of fragile X in the mean of the finger ridge count on the thumb (finger 1) and index finger (finger 2), which had the lowest heritability and a negligible nonadditive component of genetic variance. This was in contrast with ridge counts on fingers 3 and 4, which showed little fragile-X effect, but high heritability and a significant nonadditive component. A contrast in genetic properties for ridge counts on fingers 1 and 2, compared with these counts on the remaining three fingers, may be relevant to increased selection pressures on functions of the thumb and of the index finger in evolution of modern man. We have also demonstrated an important effect of fragile X in increasing the additive variance in covariance, especially between male pairs. These findings suggest that the effect of the fragile-X genotype in finger ridge count is additive and superimposed on the normal hereditary variations in this trait.     

猴与人掌(跖)纹的比较研究

本研究对猴和人的手（脚）掌纹进行了观察,并应用χ2检验进行比较分析,结果显示：(1)指（趾）间区、小鱼际区、脚弓区纹型出现频率,猴远远高于人。猴指（趾）间区纹型出现频率达95.5%以上,而人的指间区最高的Ⅰ4为72.1%,最低的Ⅰ1仅为1.0%,趾间区fⅠ3为34.6%,fⅠ1是3.7%;猴的手掌小鱼际区纹型频率为131.8%,脚掌小鱼际区为59.1%,而人分别为14.4%和18.5%;脚弓区也类似。(2)上述区的纹型类型,猴与人也有明显差异。最明显的特点是猴的斗形纹频率明显高。如指间区、趾间区、手掌小鱼际区和脚掌小鱼际区的斗形纹频率分别是77.3%、40.9%、59.1%和22.7%,而人分别为0.1%、0.3%、0和0。本研究结果对研究灵长目皮纹的遗传与进化有重要意义。 Abstract：Dermal ridges of palms (soles) in monkeys and men were observed.Using the method of χ2 examination to make a comparative study and analysis.The results showed the ridge pattern frequencies of the monkeys i n their interdigital areas were much higher than men.The ridge pattern frequenc y of the monkeys in each interdigital area and sole interdigital area was over 9 5.5%,but men’s Ⅰ4 was 72.1% at the highest, and Ⅰ1 was only 1.0% at the l owest, fⅠ3 was 34.6% and fⅠ1 was 3.7%.The ridge pattern frequency of the m onkeys in their hypothenars of palms was 131,8%,soles was 59.1%,but that of men were 14.4% and 18.5%.These similar phenomenon also existed in the arch areas of the feet.There were obvious differences between monkeys and men in their types o f ridge patterns.The obvious character was that the whorl frequency of the monke ys was obviously higher. For example ,the whorl frequency of the monkeys in thei r interdigital areas and sole interdigital areas ,hypothenar of the palms and so le were 77.3% and 40.9%,59.1%and 22.7% respectively.But those of the men were 0. 1% and 0.3%,zero and zero.The results are very significant for researching the i nheritance and evolvement of the primates'dermal ridges.     

Interkorrelationen im Hautleistensystem des Menschen und ihre faktorenanalytische Auswertung

Zusammenfassung Bezüglich Leistenzahl und Musterklasse der Fingerbeeren sowie bezüglich Hauptlinienendigungen auf der Palma wird eine Interkorrelationsmatrix für 174 Knaben und eine solche für 219 Mädchen vorgelegt. Die wichtigsten Befunde aus diesen und in der Literatur anzutreffenden Matrizen zu Hautleistenmerkmalen werden in einer Übersicht zusammengestellt. Von jenen Ergebnissen, die sich dabei als neu erweisen, sind vor allem hervorzuheben: 1. Alle Interkorrelationen bezüglich Leistenzahl und Musterklasse der Fingerbeeren sowie alle Korrelationen zwischen den Hauptlinien der Palma sind positiv und signifikant, während zwischen den Merkmalen der Fingerbeeren einerseits und den Hauptlinien andererseits keine wesentlichen Korrelationen bestehen. 2. Die Korrelation zwischen Leistenzahl und Musterklasse desselben Fingers ist nur bezüglich Zeige- und Mittelfinger besonders eng. 3. Die B-, C- und D-Linie derselben Hand korrelieren enger untereinander als mit der A-Linie und als mit den korrespondierenden Linien der anderen Hand.Die beiden aufgestellten Matrizen sowie elf Matrizen aus der Literatur wurden einer Faktorenanalyse unterzogen. Dabei resultierten weitgehend übereinstimmende Ergebnisse (Abb. 6): ein Faktor, der Leistenzahl und Musterklasse beider Zeige- und Mittelfinger stark beeinflußt; ein Faktor, der vor allem auf die Leistenzahl der Kleinfinger, und ein weiterer, der vor allem auf die Musterklasse der Kleinfinger wirkt; ein gemeinsamer Faktor für Daumen und Großzehen; ein Faktor, der besonders die Leistenzahl der drei mittleren Zehen bestimmt; ein Faktor, der auf die Leistenzahl der Kleinzehen einwirkt; ein Faktor, der die Verlaufsrichtung der A-Linie beider Hände beeinflußt; ein Faktor, der die Verlaufsrichtung der B-, C- und D-Linie der rechten Hand, und ein davon getrennter Faktor, der die Verlaufsrichtung der B-, (C-) und D-Linie der linken Hand bestimmt. Dieses heuristische Faktorensystem, das den vorliegenden Korrelationsmatrizen entsprechend noch Lücken hat und provisorisch ist, liefert möglicherweise einen Hinweis in der Frage nach der Art der genetischen Fundierung der Hautleistenvariabilität.

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An intercorrelation matrix for 174 boys and a similar one for 219 girls is presented containing ridge count and pattern types of fingerballs as wall as for main line terminations of palm. The important findings concerning dermatoglyphics of our material and of the available matrices in literature are summarized. Of the new results the following can be emphasized: 1. All intercorrelations of ridge count and pattern types of fingers as well as correlations between main lines of palm are positive and significant. But no important correlations exist between the characteristics of fingers on the one side and of mainlines on the other. 2. The correlation is particularly high between ridge count and pattern type of the same finger, yet only in case of fore and middle finger. 3. The B, C and D lines are correlated more closely with each other than with the A line and the corresponding lines of the other hand.Factor analyses have been carried out for both the prepared matrices as well as eleven matrices taken from literature. The results of these analyses substantially agree with one another (Fig. 6): one factor influences strongly the ridge count and pattern types of fore and middle finger of both hands; one factor effects especially the ridge count of the little fingers and another, which effects especially the pattern types of the little fingers; one general factor for the thumbs and the big toes; one factor which effects particularly the ridge count of the three middle toes; one factor effects the ridge count of the little toes; one factor influences the ridge course of the A line of both hands; one factor is for the ridge course of the B, C and D lines of the right hand and another, which separately influences the ridge course of the B, (C) and D lines of the left hand. This heuristic factor system corresponding to present correlation matrices is still incomplete and of a provisional character. It possibly provides certain clues to the question of the kind of genetical basis of dermatoglyphic variability.

     

Effect of prenatal exposure to anticonvulsant drugs on dermal ridge patterns of fingers

BACKGROUND: An altered frequency of specific dermal ridge patterns on fingertips, such as an increased number of arches, has been observed in children exposed in utero to anticonvulsants and other teratogens. Asymmetry of the distribution of dermal ridge patterns has been attributed to environmental exposures and genetic factors. METHODS: We evaluated all of the dermal ridge patterns of 66 children who had been exposed to either the anticonvulsant phenytoin alone or phenytoin and phenobarbital. We determined the frequency of each pattern, concordance between the fingers on the left and right hands, sex differences and total ridge counts in the drug-exposed children and compared them to the findings in 716 unexposed comparison children. The frequency of each pattern was established in comparison to the most common type of pattern (ulnar loop), which showed that there were alterations in the frequency of arches, radial loops and whorls on specific fingers. RESULTS: Eight (12.1%) of 66 children had three or more arch patterns, with all but one having been exposed to phenytoin and phenobarbital. Only one of these eight children was considered by the masked examiner to have fingernail hypoplasia. There was no evidence of asymmetry in the anticonvulsant-exposed children. There were minor differences in the distribution of total ridge count. CONCLUSIONS: Subtle differences in several dermal ridge patterns, not just arch patterns, were present in anticonvulsant-exposed children, primarily in those exposed to polytherapy: phenytoin and phenobarbital.     

Quantitative dermatoglyphic markers in fra-X-syndrome

Quantitative dermatoglyphic characters of fingers and palms of 61 male patients with fra-X-syndrome and 20 female heterozygote carriers were analysed and compared with the data from 84 male and 90 female normal individuals. Univariate and multivariate analysis of the data led to the following conclusions: 1. The fra-X-syndrome patients show higher ridge count and higher MLI value (increased transversality of the main lines), and lower a-b ridge counts than the controls. In addition to this, differences are observed also for the diversity and asymmetry measures. 2. Discriminant analysis as applied to the sexes separately, showed that 75% of males can be correctly classified in their group. However, the percent of correctly classified females is lower than the males; it is 70% (fra-X female) ad 64.4% (control female). 3. D2-matrix and the comparison of TFR C values support the hypothesis of X-chromosomal doses effect on the dermatoglyphics.     

产前超声诊断及漏诊胎儿肢体畸形分析

目的：探讨胎儿肢体畸形超声特征及诊断价值。方法：采用连续顺序追踪法对66342 例妊娠12-40 周孕妇行胎儿四肢畸形筛查。将产前超声诊断结果与引产或产后结果进行对比分析。结果：发生肢体畸形271 例,发生率为0.41 %（271/66342）,包括四肢短小5 例,桡骨发育不全1 例,缺肢畸形5 例,足内翻17 例,手掌畸形3 例,指趾畸形222 例及骨骼多发畸形18 例。其中产前诊断胎儿肢体畸形49 例;漏诊222 例,包括：足内翻3 例、指趾畸形218 例、多发骨骼畸形1 例。胎儿肢体畸形的出现率和产前检出率分别为：四肢短小1.84 %（5/271）、100 %（5/5）;桡骨发育不全0.36 %（1/271）、100 %（1/1）;缺肢畸形1.84 %（5/271）、100 %（5/5）;足内翻6.27 %（17/271）、82.35 %（14/17）;手掌畸形1.10 %（3/271）、100 %（3/3）;指趾畸形81.91 %（222/217）、1. 8%（4/222）;多发骨骼畸形6.64 %（18/271）、94.44 %（17/18）。结论：超声对胎儿手掌、脚掌部位以上畸形的检出率较高。指趾畸形出现率最高,但检出率最低。     

Bivariate and multivariate analysis of the skin ridge pattern intensities

Bivariate correlations and multivariate (factor) analysis of pattern intensities on individual fingers and all specified areas of palms and soles were performed in a large sample of 834 individuals from two rural districts of Poland, and in a sample of 383 school children from the city of Warsaw, with males and females considered separately. Eleven factors were extracted in all samples, including two for finger pattern intensities, and the remaining nine for palmar or sole individual areas, or some of their combinations. Patterns of intercorrelation between variables and the factor structure matrices were essentially similar in all subsamples, but several factors differed in the amount of variance they contributed to individual variables, or the factors occupied somewhat different positions when ranked in respect of the contribution to the total variance. Orthogonal and oblique rotation were applied to the data, but only the results of the latter were tabulated and fully discussed. In contrast with finger patterns, separate and independent factors have mainly been extracted for individual pattern intensities on palms or soles. Nevertheless the obtained factor solution on the whole is not incompatible with the concept of developmental induction fields. It is postulated that the factor structure may be susceptible to natural selection acting through functional preferences in man, and that epistatic interaction may account for some common factors.     

Fingerprint pattern factors

Factor analysis was employed using the ulnar ridge count, radial ridge count, ridge count (the larger of the radial or ulnar count as generally used for calculating total ridge count), and pattern type for each finger in 720 twins. Pattern type and ulnar count displayed parallel factor loadings while loadings for radial and ridge count also paralleled each other. This relationship did not hold for the index finger, indicating the importance of pattern direction and greater pattern diversity for this digit. Total ridge count was most closely associated with a factor of ring and little finger radial and ridge count and only secondarily with an index finger factor. When radial and ulnar counts were deleted to make comparisons with earlier studies, the result was factors having groupings of variables identical with previous reports. It appears that factor analysis results in consistent extraction of identical or very similar factors from different populations, and the use of radial and ulnar counts adds more information than when only the larger of the two counts is considered.     

The dermatoglyphics of a Toronto sample of children with XXY,XXYY, and XXX aneuploidies

Dermatoglyphic analyses were carried out on a sample of children with known sex chromosomal aneuploidies (25 XXY, 10 XXX, 1 XXYY). Digital ridge counts and pattern types were determined for each individual. Palm prints and sole patterns were also examined. The results of our study were compared with data from previous studies of sex chromosomal aneuploidies. Our results for the XXY males agree with the findings from other studies with respect to total ridge counts and plantar dermatoglyphics, but not for digital pattern frequencies. Our one example of an XXYY male showed hypothenar patterns similar to those found for this syndrome by other researchers, but neither the digital pattern types nor the unexpectedly high total ridge count conforms to the findings from other studies. Our sample of XXX females falls within the normal XX female range of variation with respect to hypothenar patterns and total ridge count; plantar features show a higher incidence of patterns than previously reported.     

The effect of a pattern in palmar interdigital II on a-b ridge count in black and white Down syndrome cases and controls

An unconfirmed study by Fang (Ph.D. thesis, Univ. of London, 1950) in Britain showed that individuals with Down syndrome had lower total a-b ridge counts in palmar Interdigital area II (ID II) than a group of controls. This study compares 603 white Down syndrome cases and 93 black Down syndrome cases with 668 white and 402 black controls. Our results confirm those of Fang in that the Down syndrome cases in both racial groups had lower total a-b ridge counts than their respective controls. In addition, the black controls and Down syndrome cases had lower a-b ridge counts than their white counterparts. The mean a-b ridge count was significantly lower in individuals with a pattern in ID II compared to individuals without a pattern in ID II in both the Down syndrome and control groups. Some of the lower a-b ridge counts in the Down syndrome samples can be accounted for by the fact that there is an increased frequency of a pattern in ID II in Down syndrome cases. Both Down syndrome and normal individuals who had a pattern unilaterally had a lower than expected a-b ridge count on the contralateral hand that did not have a pattern. There was a tendency also for increased asymmetry in Down syndrome cases with a pattern in ID II.