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Markers of genetic variation among the Waorani Indians of the Ecuadorian Amazon headwaters.

Until recently, the Waorani Indians of Ecuador's Amazon headwaters maintained a fierce resistance to all intruders into their territory, and as a result of their actions and reputations a population of 600 people controlled a very large territory (about 8,000 square miles). The isolation of the Waorani has resulted in a large linguistic and genetic distance from their neighbors. Our survey of red cell enzymes, immunoglobulin allotypes, and dermatoglyphics demonstrates that the Waorani are a highly inbred and homogeneous population. Of 18 red cell enzymes studied, the Waorani have a limited polymorphism for only 6. Only two Gm haplotypes (Gm1,2,17,21, Gm1,17,21) were found and 60% of those tested were homozygous for the Gm1,17,21 haplotype. All individuals were A2m (1) and 95% of these were homozygous. The Waorani's dermatoglyphic traits fell within the wide range found among other South American Indians with close affinity to the Ecuadorian Jivaro group. Despite the limitations of these genetic systems, they demonstrate that the Waorani share limited genetic traits with the neighboring Jivaro Indians and are isolated from other tribal populations in South America.

Dermatoglyphics↗

Anatomical and microscopic study of the volar dermal ridges of the rat (Rattus norvegicus).

The epidermal ridges of the rat (Rattus norvegicus), which are distributed only on the volar pads and digital apices, were studied. Examination of the ridges was difficult on the epidermal surface, as the undulations expressed on the epidermis are weak. Therefore, the dermal surface, prepared by alkaline solution treatment, was inspected by scanning electron microscopy and staining with toluidine blue. The dermis of the pads and digital apices is composed of ridged and rippled areas. The ridged area, where sweat ducts are distributed, is constructed of grooves and ramparts. Frequently, the sweat duct is surrounded by a dermal collar, and the groove is separated by a dermal partition. The grooves and ramparts display dermatoglyphic configurations, such as whorls, loops, cusps, triradii, and some other patterns, which are peculiar to each pad and digital apex and comparable to dermatoglyphic patterns of man and other primates.

Animals↗

Population structure of the Jirels: patterns of mate choice.

The influence of mating practices on genetic structure has been an area of great interest for anthropologists. In this paper, the techniques of potential mates analysis are employed to explore the mating patterns observed among the Jirels, a tribal population of eastern Nepal. Genealogical, anthropometric, dermatoglyphic, and demographic data for members of seven Jirel villages are used. Potential mate pools for a sample of 268 females are enumerated by village. Age structure and the Jirel restriction against clan endogamy are found to severely limit the number of males who are potential mates for a given female. The mating structure of the population is illuminated by statistical analysis of the characteristics of 160 actual mate pairs and all corresponding potential mate pairs. Using this approach several general mate choice practices were verified: 1) biological kin tend to be avoided as mates, 2) members of the same clan are excluded as potential mates, 3) mate exchange between clans is nonrandom, 4) individuals similar in age tend to be selected as mates, and 5) mates are drawn from the natal village more often than random expectation. A multivariate phenotypic distance measure between individuals did not reveal any evidence for assortative mating for either anthropometric or dermatoglyphic characters.

Age Factors↗

Digital ridge counts and genetic fields.

Principal components analysis of quantitative digital dermatoglyphics in a large Oxfordshire sample, subdivided into male, female, urban, and rural subsamples, suggests several distinguishable components. These appear meaningful biologically in that they resemble factors of limb growth, as suggested by evidence from disturbances in limb extremity development. The components are consistent in all four subsamples and are very similar to those identified in a large sample of Berkshire data. It is suggested that digital quantitative dermatoglyphic variation may provide an example of genetic field theory.

Dermatoglyphics↗

Investigations of chromosomal stability in the Gorlin-Goltz syndrome.

Chromosomal studies were carried out on nine patients with the Gorlin-Goltz syndrome using recently developed methods on cultured lymphocytes. In addition, the dermatoglyphics of these patients were examined. No evidence of a characteristic chromosome aberration was found in banded prometaphase-chromosome preparations, nor could increased chromosome breakage be demonstrated in eight of the patients. One proposita showed frequent breaks of Chromosome 1 at p22. Increased chromosome instability in these patients was suggested by higher spontaneous and mitomycin-C-induced sister chromatid exchange rates in patients than in controls. Although the dermatoglyphic findings cannot be regarded as specific for the Gorlin-Goltz syndrome, an increased occurrence of whorl patterns and white lines in patients' fingerprints was noted.

Basal Cell Nevus Syndrome↗

Extralimital triradii as a putative marker of schizotypy.

Dermatoglyphic anomalies are reported to occur at a higher rate in schizophrenic patients and schizotypic individuals than in the general population, supporting the hypothesis that they are a marker of vulnerability for such conditions. Dermatoglyphic anomalies are hypothesized to indicate severe disruptions in the second trimester of prenatal development, a time period that appears to be etiologically relevant to the development of schizophrenia and related conditions. The present study provides the first examination of extralimital triradii in schizotypic young adults (n=197) and control participants (n=135) identified by the Revised Social Anhedonia Scale [Eckblad, M., Chapman, L.J., Chapman, J.P., Mishlove, M., 1982. The Revised Social Anhedonia Scale. Unpublished test (copies available from T.R. Kwapil, Department of Psychology, University of North Carolina at Greensboro P.O. Box 26164 Greensboro, NC 27402-6164)], the Perceptual Aberration Scale [Chapman, L.J., Chapman, J.P., Raulin, M.L., 1978. Body image aberration in schizophrenia. J. Abnorm. Psychol. 87, 399--407], the Magical Ideation Scale [Eckblad, M.L., Chapman, L.J., 1983. Magical ideation as an indicator of schizotypy. J. Consult. Clin. Psychol. 51, 215--225], and the Physical Anhedonia Scale [Chapman, L.J., Chapman, J.P., Raulin, M.L., 1976. Scales for physical and social anhedonia. J. Abnorm. Psychol. 85, 374--382]. As hypothesized, the schizotypic participants (6.6%) exhibited significantly higher rates of extralimital triradii than control participants (1.5%). These findings strongly encourage the future investigation of extralimital triradii in at-risk and psychotic populations.

Dermatoglyphics↗

Lack of evidence for craniofacial dysmorphism in perinatal human immunodeficiency virus infection.

Thirty children perinatally exposed to human immunodeficiency virus (HIV) infection and 30 healthy control subjects matched for age, sex, and race were evaluated for growth, head size, craniofacial dysmorphism, dermatoglyphics, and other physical features. Thirteen patients met the criteria for group IV (constitutional, neurologic, and secondary infectious diseases), 14 for group III (persistent generalized lymphadenopathy or hepatosplenomegaly), and three for group II (asymptomatic infection) of the classification of HIV infection established by the Centers for Disease Control, Atlanta. Postnatal growth failure and microcephaly, observed in a significant proportion of patients (46.7% and 30%, respectively), could be attributed to chronic illnesses and to progressive central nervous system lesions in HIV-infected patients. There were however, no significant differences between patients and controls with regard to the incidence of craniofacial features and dermatoglyphics, and the incidence of other anomalies was not different from that expected in the population. The patients born to drug-using mothers were not different from those born to non-drug-using mothers in relation to the studied criteria. We could not confirm the presence of characteristic craniofacial dysmorphism in children exposed to perinatal HIV infection.

Abnormalities, Multiple↗

Neonatal head circumference and related indices of disturbed fetal development in schizophrenic patients.

Neonatal head circumference and dermatoglyphic patterns were examined in 60 schizophrenic patients with previous findings of elevated rates of minor physical anomalies. Neonatal head circumference was reduced in patients vs neonatal matched-controls. Patients did not differ from healthy adult controls on total finger ridge count, a-b palmar ridge count, or pattern type asymmetry. No significant relationships were found in patients between neonatal head circumference, dermatoglyphics and minor physical anomalies, with one exception: reduced a-b palmar ridge count was associated with abnormalities of the mouth. No relationship was found between patients' neonatal head circumference and their adult head circumference. Adult male schizophrenic patients had larger head circumference relative to body length than their male controls.

Adult↗

Genetic and environmental variation of ridge-counts on fingers, palms, soles and toes: a twin study.

A multivariate procedure for estimating heritable components from twin data was applied to ridge counts obtained from the entire dermatoglyphic system. Covariance matrices of MZ and DZ within-pair differences were used to estimate genetic correlation matrices for 20 finger ridge counts, 6 palmar interdigital counts, 20 toe counts, 4 hallucal counts, and 6 sole interdigital counts. The proportion of genetic variation was found to be greater in ridge counts of patterns than in ridge counts of interdigital areas. On digits, finger counts are more highly heritable than toe counts. Each of the dermatoglyphic areas yielded several independent genetic components, ranging from general to specific. Environmental variation was found to be local and to frequently involve reciprocal interaction between twin pairs.

Dermatoglyphics↗

Regression analysis of digital ridge counts on pattern intensity index: a developmental interpretation.

Regression analyses of digital ridge counts on pattern intensity index (PII) are performed on data from three populations. The results for two Papua New Guinean populations (608 subjects from Karkar Island and 397 from Lufa sub District) are compared with those for a dermatoglyphically very different population from the Faroe Islands (296 subjects). Digital relationships are examined within each population. Equating the statistical regression of digital ridge counts with the embryological regression of apical volar pads, some biological interpretations of the findings are suggested. The results indicate that developmental fields across the embryological hand interact with genotype to produce digital differences in dermatoglyphic phenotype.

Denmark↗

Palmar pattern reduction among the Bushmen.

Hand prints from 98 male and 57 female !Kung Bushmen, who show the characteristic high frequency of digital arches observed in other Bushmen samples, also show attenuation of dermatoglyphic patterns in the third interdigital area. There is an acceptable level of reproducibility between independent observers using Hauser's semi-quantitative scoring method for interdigital pattern reduction. Interdigital reduction forms are more frequent than those reported in Vienna, but their associations are similar, and so is the relationship of the bc count to the total reduction score. As the degree of reduction increases in the third interdigital area, mainline terminations tend to be located more radially. The results provide a further demonstration of the interrelatedness of dermatoglyphic traits.

Black People↗

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.

Naegeli-Franceschetti-Jadassohn syndrome (NFJS) and dermatopathia pigmentosa reticularis (DPR) are two closely related autosomal dominant ectodermal dysplasia syndromes that clinically share complete absence of dermatoglyphics (fingerprint lines), a reticulate pattern of skin hyperpigmentation, thickening of the palms and soles (palmoplantar keratoderma), abnormal sweating, and other subtle developmental anomalies of the teeth, hair, and skin. To decipher the molecular basis of these disorders, we studied one family with DPR and four families with NFJS. We initially reassessed linkage of NFJS/DPR to a previously established locus on 17q11.2-q21. Combined multipoint analysis generated a maximal LOD score of 8.3 at marker D17S800 at a recombination fraction of 0. The disease interval was found to harbor 230 genes, including a large cluster of keratin genes. Heterozygous nonsense or frameshift mutations in KRT14 were found to segregate with the disease trait in all five families. In contrast with KRT14 mutations affecting the central alpha -helical rod domain of keratin 14, which are known to cause epidermolysis bullosa simplex, NFJS/DPR-associated mutations were found in a region of the gene encoding the nonhelical head (E1/V1) domain and are predicted to result in very early termination of translation. These data suggest that KRT14 plays an important role during ontogenesis of dermatoglyphics and sweat glands. Among other functions, the N-terminal part of keratin molecules has been shown to confer protection against proapoptotic signals. Ultrastructural examination of patient skin biopsy specimens provided evidence for increased apoptotic activity in the basal cell layer where KRT14 is expressed, suggesting that apoptosis is an important mechanism in the pathogenesis of NFJS/DPR.

Apoptosis↗

Familial Wolf's syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4;8)(p15.3;p22). Case report, review and risk estimates.

This is the case report of a patient with Wolf's syndrome having a monosomy 4pter----p15.3 and an additional trisomy 8pter----p22, derived from a maternal balanced translocation t(4;8)(p15.3;p22) after 2:2 disjunction and adjacent-1 segregation. The patient's phenotype is presumably slightly modified by the trisomic 8p segment. Literature analyses indicate that phenotypic "hybrids" with traits of monosomy 4p and of other autosomal segment trisomies exist. The dermatoglyphics of the patient were not highly characteristic for Wolf's syndrome. Also the dermatoglyphics of the balanced translocation carriers were unspecific and did not reflect the carrier status. Pedigree analyses of 46 reported families with reciprocal translocations involving the short arm of chromosome 4 show a high risk (20.5% +/- 4.6%) for unbalanced offspring (trisomy or monosomy 4p) after 2:2 disjunction and adjacent-1 segregation, if the breakpoint in the recipient chromosome is terminal and the resulting imbalance concerns the 4p segment only. It is considerably lower (4.5% +/- 2.5%) if the breakpoint in the recipient chromosome is subterminal, as in the reported case, and the resulting imbalance concerns other chromosome segments additionally to the 4p segment. In both instances, the risk decreases with increasing segment length. The risk for unidentified abortions, stillbirths or neonatal deaths is also high in these families (about 40%). The frequency of progeny with balanced compared to progeny with normal karyotype corresponds to the expected 50% for alternate segregation.

Abnormalities, Multiple↗

A simple technique for recording and counting sweat pores on the dermal ridges.

A simple method was devised for recording dermatoglyphics in a form suitable for sweat pore counting. Fifteen members of a family with a hypohidrotic X-linked ectodermal dysplasia made their own hand prints using our method and mailed the results to us for interpretation. The simplicity of the technique also makes it practical to use on new-born males at risk for the condition, or where dermatoglyphic records are required for other purposes. Preliminary data suggest that patchiness of sweat pore distribution on the fingers and palms may be useful in the discrimination of heterozygotes.

Adolescent↗

Discriminant functions and 21-trisomy mosaicism.

A sample of 173 cases of cytogentically diagnosed 21-trisomy mosaicism, 225 cases of complete 21 trisomy and 302 normal controls were used to form discriminant functions for mosaics versus normal controls, and also for complete 21 trisomics versus normal controls; for each of these discriminants optimal sets of ten dermatoglyphic characters were selected. The mean discriminants and discriminant coefficients were calculated on the basis of these characters, using Fisher's method. The relative position of mosaics in respect of the mean discriminant values, was found closer to the Down's syndrome group than to the normal controls. Consequently, reasonably, good separation of the mosaics from the normal controls has been achieved: the distance between the two mean discriminants is greater than two standard deviations. The distribution curves were then constructed of individual discriminants, calculated in a majority of cases from all the three groups. The distribution curve for mosaics has been found bimodal so that more detailed study of the individuals forming its first peak was undertaken; a possible relationship between the degree of dermatoglyphic distortion and cytogenetic findings is discussed and some limitations of both methods are indicated. The results concerning discriminant function indices are recommended for further use, particularly in genetic counselling. Their application in the studies of populations of parents of Down's syndrome cases is demonstrated in the group of 79 parents of two or more Down's cases and the group of 111 parents of one Down's case. On the basis of these data it is postulated that there may be some proportion of undetected mosaics amongst the parents of Down's cases, but larger numbers are necessary to support and further specify these preliminary results.

Dermatoglyphics↗

Fingertip and palmar patterns in duodenal ulcer.

Dermatoglyphic studies were carried out on 90 adult males suffering from duodenal ulcer. Fingertip and palmar patterns were analysed to see if there was an association between duodenal ulcer and any of the dermatoglyphic traits. The patterns which were significantly different are: (1) increased frequency of whorls; (2) reduced frequency of loops on fingertips, and (3) increased frequency of patterns in the thenar I and IV interdigital area.

Dermatoglyphics↗

Some remarks on linkage with a quantitative character.

A sample of 539 Polish families and 2,500 individuals were analysed to determine whether there was any evidence of linkage between the dermatoglyphic pattern elements on fingertips and blood groups. The results of the present study did not show any indication of linkage between dermatoglyphic patterns on fingertips (ulnar loops, radial loops, whorls and arches) and the ABO, MN, Rh, Kell and Xg blood groups.

Blood Group Antigens↗

[Dermatologlyphic investigations in a kindred manifesting familial atrial septal defect (ostium secundum). A contribution to the problem of genetic counselling in multifactorial inheritance (author's transl)].

In order to improve the possibilities of genetic counselling in multifactorial inheritance, dermatoglyphic investigations were performed in a family with atrial septal defect (ostium secundum) - ASD II - affecting two out of six children of a married couple and a maternal aunt. The frequency of finger-print patterns differed widely between the husband and his father on the one hand and the wife and her relatives on the other hand. Assuming some partial effect of the ASD II genes on the total gene influence on dermatoglyphics, it seemed possible that the finger-prints of the two affected siblings and of those brothers who were fairly near the threshold of ASD manifestation might resemble more closely the finger-prints of their mother and their mother's relatives than the finger-prints of their father and their paternal grandfather. This assumption was, however, disproven.

Chromosomes↗