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.     

Relationship between genetic anomalies of different levels and deviation in dermatoglyphic traits

The present study is carried out to evaluate the effect of chromosomal morbidity (82% are 47XXY and in the remaining cases there is the extra X and/or Y) in the males with Klinefelter’s syndrome, based on dermatoglyphic traits and indices of diversity and asymmetry. The main objectives of the present study is to find dermatoglyphic traits and fluctuating asymmetry indices which could be “marker traits” and could indicate the degree of developmental instability of the organism. The sample of males with Klinefelter’s syndrome (N=171) was collected in the Institute of Human Genetics of Sheba Medical Center, Ramat-Gan, Israel, by Professor Bat-Miriam Katznelson during 20 years, between 1968–1988. All patients were confirmed by chromosomal examination. The finger and palm prints were collected with the aid of pads manufactured by Lamedco Inc., Knoxville, Tennessee, U.S.A. Interpretation of the prints was according to Cummins and Midlo (1961) and Penrose (1968) and included identification of patterns, ridge counts and the measurements of distances sum of and angles in the palms. 79 dermatoglyphic variables for every patient: 28 continuous traits, 9 discrete traits, 11 indices of intra-individual diversity, 15 indices of directional asymmetry and 16 indices of fluctuating asymmetry were estimated. The problem of asymmetry, fluctuating and directional and of intraindividual diversity of quantitative dermatoglyphic traits is reviewed here as well as illustrated by data obtained on a sample of healthy control group of Jews from Israel. In this first part of our paper we will discuss the data on individual dermatoglyphic traits on digits and palms. The second part will be dedicated to multivariate analysis in order to compare between Klinefelter’s syndrome and control healthy individuals based on quantitative dermatoglyphic traits and indices of diversity and asymmetry.     

Inheritance of human finger and palm dermatoglyphic characteristics]

The degree of genetic determination of 25 quantitative dermatoglyphic characteristics has been studied on family: twin material: 45 pairs of MZ and 75 single-sex DZ twins; and 53 single-sex "parent-child" pairs. Approximating formulae were used to estimate main components of phenotypic variance due to additive interaction of genetic factors, to non-linear effects (intralocus dominance) and to the effect of total-familiar and random environmental factors. All the finger dermatoglyphic characteristics studied had a high degree of genetic determination (G greater than 0,80), and for most of them the contribution into the large variance of intralocus dominance effects was comparable with that of additive gene interaction, included in the determination of these characters. There are some palm dermatoglyphic characteristics ("ad" distance "cd" comb counting, "bad", "adt" and "cda" angles), which degree of genetic determination is low (G less than 0,35). At least ten quantitative finger and palm dermatogliphic characteristics with a high degree of genetic determination can be used for special studies in frames of multidimentional genetical analysis, including determination of twin zygosity type. Earlier described "indices" (using twin data) of relative role of genetic and environment factors in the determination of populational variability of quantitative characters are considered. None of them is shown to be a reliable estimate of the coefficient of genetic character determination. The use of these indices in practical studies can result in wrong conclusions on the degree and the character of genetic determination of quantitative characters.     

Genetic variability in macaques: Correlations between biochemical and dermatoglyphic systems

The palmar dermatoglyphics of four groups of macaque, Macaca nemestrina, M. fuscata yakui, M. f. fuscata and M. fascicularis, were compared, and the genetic affinities of the four groups were assessed using a dermatoglyphic mean square distance measure. According to this measure the two subspecies of M. fuscata were dermatoglyphically more distant from one another than was M. fuscata fuscata from M. nemestrina, suggesting that the two insular populations of M. fuscata had evolved in genetic isolation. The distributions of specific dermatoglyphic patterns were then compared with the frequency distributions of alleles at different protein structural loci in other macaque populations. The results of the comparison were consistent in that insular populations showed reduction in variability for both kinds of systems. The implications of this correlation are discussed in terms of population size and natural selection.     

Down's syndrome: a genetic disorder in biobehavioral perspective

Down's syndrome is a genetic disorder that can lead to mental retardation of varying degrees. How this chromosomal abnormality causes mental retardation remains an open question. This paper reviews what is currently known about the neural and cognitive features of Down's syndrome, noting the growing evidence of disproportionate impairment of specific systems such as the hippocampal formation, the prefrontal cortex and the cerebellum. The development of animal models of these defects offers a way of ultimately connecting the genetic disorder to its cognitive consequences.     

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 genetic variability in Rhizophagus irregularis and tolerance to saline conditions

Reclamation of saline soils produced by extraction of bitumen from oil sands is challenging. The main objective of this study was to select a salt-tolerant arbuscular mycorrhizal (AM) fungal isolate that could, in the future, be used to pre-inoculate plants used in reclamation of saline substrates produced by oil sand industry. To achieve this, the effects of NaCl, Na₂SO₄, and saline release water from composite tailings (CT) on hyphal growth of two AM fungal isolates from non-saline (Rhizophagus irregularis DAOM 181602, Rhizophagus sp. DAOM 227023) and three isolates of R. irregularis isolated from saline or sodic soils (DAOM 234181, DAOM241558, and DAOM241559) were tested in vitro. Pre-symbiotic hyphal growth of the five isolates, in absence of a host plant, decreased with increasing salt stress and no spores germinated in CT. The symbiotic extraradical phase of the four isolates of R. irregularis developed well in saline media compared to the Rhizophagus sp. Nevertheless, fungal development of the four R. irregularis isolates differed in saline media indicating phenotypic variations between isolates.     

Relationship between genetic anomalies of different levels and deviations in dermatoglyphic traits. Part 4: Dermatoglyphic peculiarities of males and females with Down syndrome. Family study

The present study was carried out in order to evaluate the effect of chromosomal morbidity (trisomy 21) in males and females with Down's Syndrome (DS) based on dermatoglyphic traits (DT) and their indices of diversity and asymmetry. The results were compared between parents and control groups of women and men whose data are detailed in our publication (Kobyliansky et al. 1999). The general aim of the study was to explore the possibility of using DT of the parents of DS patients to predict the likelihood of the disease appearing in the offspring. The samples were of DS patients (198 males and 140 females) and their parents (84 fathers and 153 mothers), all Israeli Jews. The prints were collected in the Genetic Institute of the Sheba Hospital, Ramat-Gan, Israel, and were validated by chromosomal examination. Interpretation of the prints was done according to Cummins & Midlo (1961) and Penrose (1968) and included identification of patterns, ridge counts and the measurements of distances and angles in the palm of the hands; 79 DT for every individual: 28 continuous traits, 9 discrete traits, 11 indices of intraindividual diversity (Div), 15 indices of directional asymmetry (DA) and 16 indices of fluctuating asymmetry (FA) were estimated. This study supports the hypothesis that the magnitude of FA in groups with low developmental stability (groups with chromosomal aberrations) or other birth defects, is elevated, compared with FA in healthy controls. The present study found proof of the existence of an additive genetic component in the FA of DT, while an increased FA was observed in parents of DS patients in comparison to control groups. The DT which are typical to DS patients were confirmed also in parents. The decrease in sexual dimorphism of the DT was found in DS patients and their parents in comparison with the control.     

Digital dermatoglyphic patterns of Eskimo and Amerindian populations: relationships between geographic, dermatoglyphic, genetic, and linguistic distances.

Dermatoglyphic traits have been used to assess population affinities and structure. Here, we describe the digital patterns of four Eskimo populations from Alaska: two Yupik-speaking villages from St. Lawrence Island and two Inupik groups presently residing on mainland Alaska. For a broader evolutionary perspective, these four Eskimo populations are compared to other Inuit groups, to North American Indian populations, and to Siberian aggregates. The genetic structures of 18 New and Old World populations were explored using R-matrix plots and Wright's FST values. The relationships between dermatoglyphic, blood genetic, geographic, and linguistic distances were assessed by comparing matrices through Mantel correlations and through partial and multiple correlations. Statistically significant relationships between dermatoglyphics and genetics, genetics and geography, and geography and language were revealed. In addition, significant correlations between dermatoglyphics and geography, with linguistic variation constant, were noted for females but not for males. These results attest to the usefulness of dermatoglyphics in resolving various evolutionary questions concerning normal human variation.     

Minutiae of skin ridges in Down's syndrome]

Minutiae of the epidermal ridges were examined in 16 children with Down's syndrome and 50 children without genetic and familial abnormalities. Minutiae in standard areas on the hand palms (according to Grzeszyk's concept) were examined. Comparative analysis confirmed by the statistical analysis showed significant differences in the incidence of particular minutiae types on the hand palms of children with Down's syndrome and control group.     

Relationship between genetic anomalies of different levels and deviations in dermatoglyphic traits. Part 7: Dermatoglyphic peculiarities of females with cervical and endometrial carcinoma

This study was carried out to evaluate the effects of neoplastic diseases like carcinoma of the cervix and endometrial carcinoma, and was based on dermatoglyphic traits and their indices of intraindividual diversity (Div), fluctuating asymmetry (FIA) and directional asymmetry (DA). The results were compared with control groups of women and men, whose data have been detailed in our previous publications (Kobyliansky et al., 1999 a-d), and with analogous data of additional cancer groups available in the literature, like acute leukemia, bronchial cancer and breast cancer. The general aims of the study were as follows: (a) to obtain a dermatoglyphic characterization of discrete and quantitative traits and their Div, DA, FIA values in cancer patients, compared to healthy control groups, both female and male; (b) to test the hypothesis that in cancer patients there is an increased level of FIA as a result of an impaired developmental homeostasis; (c) to explore the possibility of using DT (dermatoglyphic traits) data of CW (women with cancer) to predict the probability of the appearance of cervical and endometrial carcinoma in apparently healthy females at a young age. The sample consisted of 94 Israeli-Jewish women of various groups, of which 54 had endometrial carcinoma and 40 had cervical carcinoma. The prints were collected in the Tel-Hashomer Hospital. The control group was a sample of 874 healthy subjects, half of them male and the other female, all from Jewish communities of European extractions (50%) as well as from Africa (50%). All controls were adults (over 18 years of age). Interpretation of prints was performed according to Cummins & Midlo (1961) and Penrose (1968) and included identification of patterns, ridge counts and the measurement of distances and angles in the palms, 79 DT for every individual were assessed. Significant differences were found for some of the studied traits between cancer patients and their healthy control groups. We encountered merely a low sexual dimorphism between the CW and the control males as compared to that between control males and females (with significant differences in 18% of the quantitative traits vs 64% in the control). The indices of diversity and asymmetry proved more suitable for discrimination, yielding the highest discrimination level between CW and control females. This finding suggested other data in the present study which points to a similarity between CW and control males.     

Use of restriction fragment length polymorphic probes in the analysis of Down's syndrome trisomy

Summary Restriction fragment length polymorphic probes are being used more frequently in the molecular analysis of Down's syndrome and in the origin of nondisjunction in the syndrome. The type of information gained from RFLPs overlaps but differs from the information from cytogenetic heteromorphisms. From the allele frequencies of commonly available probes we have derived the expected frequencies of all matings in the population. Each mating has been defined and partitioned to show the genotypes and phenotypes expected, with numerical values based on studies with heteromorphisms. From this we show how the various phenotypes can be used to calculate the origin of nondisjunctions and their expected frequencies. Further, an alternative method is outlined for mapping the distance between a probe and its centromere based on the distortion, caused by crossing-over, of the expected 1st to 2nd division nondisjunction ratio. Finally, we discuss prospects for various uses of probes in the analysis of Down's syndrome.     

Effect of genetic background on the ratios between different types of dermatoglyphic patterns: recessive genodermatoses

The ratios between dermatoglyphic patterns of different types were studied in males and females with and without hereditary diseases of the skin. It was found that ridge patterns of fingers are determined by special polygenes. Patients with monogenic dermatoses (X-linked ichthyosis and autosomal recessive ichthyosiform erythroderma) exhibited a suppressed formation of the loop pattern compared to control subjects.     

Relationship between diaphragm length and abdominal dimensions

We examined the relationship between changes in abdominal cross-sectional area, measured by respiratory inductive plethysmography, and changes in length in the costal and crural parts of the diaphragm, measured by sonomicrometry, in nine supine, anesthetized dogs. During passive inflation, both parts of the diaphragm shortened and abdominal cross-sectional area increased. During passive deflation, both parts of the diaphragm lengthened and abdominal cross-sectional area decreased. We subsequently used the relationship between costal and crural diaphragmatic length, respectively, and abdominal cross-sectional area during passive inflation-deflation to predict the length changes in the costal and crural diaphragm during quiet breathing before and after bilateral phrenicotomy. In the intact animal the inspiratory shortening in the crural diaphragm was almost invariably greater than predicted from the relationship during passive inflation. During inspiration after phrenicotomy the crural diaphragm invariably lengthened, whereas the costal diaphragm often shortened. In general there was a good correlation between the measured and predicted length change for the crural diaphragm (r = 0.72 before and 0.79 after phrenicotomy) and a poor one for the costal diaphragm (r = 0.05 before and 0.19 after phrenicotomy).     

Structure of interphase chromatin in patients with Down's syndrome and their mothers]

A method of fluorescent microscopy with the aid of acridine orange was applied in these studies; some features of the changes in the structure of interphasic chromatin characteristic of their sick children were revealed on the short-term cultures of lymphoyctes obtained from the mothers with children suffering from Down's syndrome. Sibling girls also displayed deviations similar to the changes revealed in their mothers. The data obtained permit to suppose the existence of a definite population of women, peculiarities of whose genotype promoted the appearance on the structural chromatin organization was revealed only in the mothers and sibling girls it is suggested that the mentioned genotype peculiarities were hereditary and connected with genes (or certain chromatin areas) limited by sex.     

On the relation between genetic and environmental variability in animals

Summary If a phenotypic character is under stabilizing selection, the selective disadvantage of a nonoptimal genotype will decrease exponentially to zero as the proportion of phenotypic variation that is environmental in origin -V _e /V _p - increases. Under the modified mutation-drift hypothesis of genetic polymorphism, the proportion of mutations that are effectively neutral and average heterozygosity should increase with this ratio. Invertebrates, because of their small size, fast development, and low degree of homeostasis (relative to vertebrates), are expected to show a larger environmental component of phenotypic variation than vertebrates. This may help explain why invertebrates are in general more genetically variable than vertebrates and why, when laboratory populations ofDrosophila are maintained in heterogeneous environments, genetic variability is lost less rapidly than when they are kept in constant conditions.     

Absence of radiation-induced adaptive response in lymphocytes of patients with Down's syndrome]

The adaptive syndrome and response (AR) in lymphocytes from 6 patients with Down syndrome (DS) were investigated. No AR was found to occur in all cases in DS cells pre-exposed to 3 rad of X-rays in S phase of cell cycle and then irradiated with 150 rad of gamma rays in G2 whereas the chromosome aberrations yield in cells from control donors was decreased twice under such conditions of the experiment.