一千例甘南藏族手纹学分析

本文报道1000例甘南藏族手纹学正常值。各类指端纹型按出现频率的多少依次为:尺箕(Lu)、斗形(W)、双箕(Wd)、桡箕(Lr)、弓形(A)、帐弓(A~t)。掌褶正常型占74.45±0.97、通贯手占8.15±0.61、总指嵴数168.10±51.54、a—b嵴数34.95±8.92、atd角(度)39.18±4.36。     

Tri-allelic pattern at the TPOX locus: A familial study

Alleles at the TPOX STR locus have 6–14 different numbers of a four-nucleotide (AATG) repeat motif arranged in tandem. Although tri-allelic genotypes are generally rare, the TPOX tri-allelic pattern has a higher frequency, varying widely among populations. Despite this, there are few accurate reports to disclose the nature of the TPOX third allele. In this work we present data obtained from 45 individuals belonging to the same pedigree, in which there are cases of tri-allelic TPOX genotypes. The subjects were apparently healthy with a normal biological development. We noticed six tri-allelic cases in this family, and all of them were women. Karyotype analysis showed no occurrence of partial 2p trisomy. All the tri-allelic cases had the genotype 8–10–11, probably due to three copies of the TPOX STR sequence in all cells (Type 2 tri-allelic pattern). Based on previous data we assumed the allele 10 as the TPOX third allele. The pedigree analyses show evidences that the TPOX extra-allele was the allele10, it is placed far from the main TPOX locus, and that there is a potential linkage of the TPOX extra-allele-10 with Xq. This was the first study that included a large pedigree analysis in order to understand the nature TPOX tri-allelic pattern.     

Absence of triradius d in a three-generation pedigree and other variations of main-line D

An example is reported of a rare dermatoglyphic variant (absence of triradius d) in a woman of mixed European and Cherokee American Indian ancestry. This variant was not present in her parents, her five siblings, four nephews or one niece. Attention is drawn to the continuum from an absent triradius d to a triradius with an abbreviated main-line associated with either an open field in interdigital area IV, or a loop in interdigital area IV or a tented arch at d. This same continuum occurs at c. The absent triradius at d is extremely rare and the tented arch at d is very rare.     

Toe and plantar dermatoglyphics in adult American Caucasians

The scarcity of information on control data of toe and plantar dermatoglyphics led us to undertake this study of adult American Caucasians. Toe and sole prints of 168 male and 83 female participants of the Baltimore Longitudinal Study of Aging were analyzed. Toe pattern frequencies demonstrate that fibular loops are the most prevalent pattern on the toes in both males and females. Pattern distribution by digit shows that arches are most often located on the fifth toe while whorls are found with greatest frequency on the third toe. Plantar pattern frequencies indicate that the most common pattern found in the hallucal area is the distal loop. Open fields are frequently found in the II and IV interdigital areas while distal loops are prevalent in the III area. These results are compared to the finger and palmar patterns of the same individuals. The distribution of patterns on the toes and fingers of the same individuals appear to be quite different. Population comparisons did not demonstrate a clear racial difference in the toe pattern frequencies or in the plantar areas.     

The inheritance of fingerprint patterns.

Analysis of the fingerprints of 571 members of the Habbanite isolate suggest inherited patterns and pattern sequences. A genetic theory has been developed; it assumes that the basic fingerprint pattern sequence is all ulnar loops and that a variety of genes cause deviations from this pattern sequence. Genes that have been proposed include: (1) a semidominant gene for whorls on the thumbs (one homozygote has whorls on both thumbs, the other has ulnar loops on both thumbs and the heterozygote usually has two ulnar loops or one ulnar loop and one whorl); (2) a semidominant gene for whorls on the ring fingers which acts like the gene for whorls on the thumbs; (3) a dominant gene for arches on the thumbs and often on other fingers; (4) one or more dominant genes for arches on the fingers; (5) a dominant gene for whorls on all fingers except for an ulnar loop on the middle finger; (6) a dominant gene for radial loops on the index fingers, frequently associated with an arch on the middle fingers; and (7) a recessive gene for radial loops on the ring and little fingers. These genes may act independently or may show epistasis.     

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.     

Linkage analysis and the inheritance of arches in a Habbanite isolate.

A pedigree and linkage analysis was performed on a corrected version of the Habbanite pedigree 2 of Slatis et al. [1]. The trait "arch on any digit" was examined for major gene inheritance and possible linkage to several blood and serum group markers. The results confirm the proposed dominant major gene inheritance of this trait with almost complete penetrance. In addition, the analysis suggests linkage with the haptoglobin locus with evidence against linkage with Pl and Rhesus. These results are of particular interest in view of recently reported dermatoglyphic associations with haptoglobin.     

Mutation analysis of EXT1 and EXT2 Genes in a Korean family with multiple exostoses

A 35-year-old female patient diagnosed clinically as multiple exostosis visited the hospital for infertility evaluation and treatment. She had an operation in pelvis, humerus, tibia and femur in 1993. An extended pedigree analysis showed three of her siblings and several cousins have suffered from the same disease with a typical autosomal dominant pattern of inheritance. So she wanted a genetic test for her disease before having a child. For mutation analysis, DNAs were extracted from the patient and her brother. All exons and exon-intron boundaries of EXT1 and EXT2 genes were amplified by polymerase chain reactions. The PCR products were directly sequenced and analyzed by ABI genetic analyzer. A single base pair deletion c.2241delC in the exon 6 of EXT1 gene was detected in both patient and her brother. Generation of a premature stop codon resulting from frameshift of codons might be a causative of the disease. According to the human genome mutation data base (HGMD), the mutation detected is not previously documented.     

Maternal duplication associated with gene deletion in sporadic hemophilia.

Sporadic occurrences of X-linked disorders can give insights into mutagenesis in man. In a case of sporadic hemophilia, associated with a partial deletion of the factor VIII gene, an unexpected inheritance pattern of gene rearrangements was observed. The factor VIII gene was found to be partially duplicated in the hemophiliac's mother. A pedigree analysis indicates that the mother has contributed both aberrant genes as well as the normal gene to her offspring. One simple model for the evolution of the deletion in this family is that the duplication is the precursor to the deletion.     

Breaking loops in large complex pedigrees

For pedigrees with multiple loops, exact likelihoods could not be computed in an acceptable time frame and thus, approximate methods are used. Some of these methods are based on breaking loops and approximations of complex pedigree likelihoods using the exact likelihood of the corresponding zero-loop pedigree. Due to ignoring loops, this method results in a loss of genetic information and a decrease in the power to detect linkage. To minimize this loss, an optimal set of loop breakers has to be selected. In this paper, we present a graph theory based algorithm for automatic selection of an optimal set of loop breakers. We propose using a total relationship between measured pedigree members as a proxy to power. To minimize the loss of genetic information, we suggest selection of such breakers whose duplication in a pedigree would be accompanied by a minimal loss of total relationship between measured pedigree members. We show that our algorithm compares favorably with other existing loop-breaker selection algorithms in terms of conservation of genetic information, statistical power and CPU time of subsequent linkage analysis. We implemented our method in a software package LOOP_EDGE, which is available at http://mga.bionet.nsc.ru/nlru/.     

Dermatoglyphic features of myocardial infarction patients

An association reported between certain dermatoglyphic features and myocardial infarction (MI) in Japanese males is investigated using a sample of Caucasian males. The frequencies of each of the four Galtonian pattern types (arch, ulnar loop, radial loop, whorl) defined on each of the ten primary digital pattern areas, as well as several synthetic fields for the MI and control groups, are compared. Total and absolute finger ridge count for the same pattern areas in the two samples are similarly studied. No differences in the distributions of these features significant at the 0.01 level or less could be demonstrated between the MI and control samples. A search for combinations of features to correctly classify the individuals into the two groups was similarly inconclusive. Differences in sample size and racial homogeneity that may account for this failure to reproduce the results of the study of Japanese males are discussed. Finally, statistics describing the distributions of the dermatoglyphic features in the test and control samples are presented for comparison with future investigations.     

Dermatoglyphic fingerprint heterogeneity among individuals with nonsyndromic cleft lip with or without cleft palate and their unaffected relatives in China and the Philippines

Cleft lip with or without cleft palate (CL/P) is a common birth defect (birth prevalence ranging from 1/500 to 1/2,000) with a complex etiology. Traits potentially related to CL/P, such as dermatoglyphics, may reflect the genetic and epidemiologic heterogeneity observed in CL/P. Such phenotypic heterogeneity in dermatoglyphic patterns may account for some of the variability in previously reported associations of dermatoglyphics and CL/P. To test this hypothesis, we took dermatoglyphic prints from individuals with nonsyndromic CL/P (n = 460) and their unaffected relatives (n = 254) from the Philippines and China. For both samples three raters designated the patterns as arch, ulnar loop, radial loop, whorl, or "other." Chi-square analysis and standard ANOVA were used to investigate heterogeneity between Filipino and Chinese study subjects. The significant associations between particular pattern types and CL/P were not the same in both populations, demonstrating population-specific association of CL/P and dermatoglyphic pattern types. The ANOVA of pattern type included both CL/P cases and their relatives, with affection status, sex, and population group as variables. For each pattern type except arches, population was significant (p < 0.0001); for radial loops, affection status was additionally significant (p < 0.0001). When only CL/P cases were considered, population was again significant for the ulnar loop (p < 0.0001), whorl (p < 0.0001), and "other" (p = 0.0002) patterns. The ANOVAs demonstrate between-population heterogeneity in dermatoglyphic pattern types. These results support our hypothesis that population-specific associations and population heterogeneity in dermatoglyphic patterns exist for CL/P cases and their relatives.     

Studies on the mechanism of retinoid-induced pattern duplications in the early chick limb bud: temporal and spatial aspects

All-trans-retinoic acid causes striking digit pattern changes when it is continuously released from a bead implanted in the anterior margin of an early chick wing bud. In addition to the normal set of digits (234), extra digits form in a mirror-symmetrical arrangement, creating digit patterns such as a 432234. These retinoic acid-induced pattern duplications closely mimic those found after grafts of polarizing region cells to the same positions with regard to dose-response, timing, and positional effects. To elucidate the mechanism by which retinoic acid induces these pattern duplications, we have studied the temporal and spatial distribution of all-trans-retinoic acid and its potent analogue TTNPB in these limb buds. We find that the induction process is biphasic: there is an 8-h lag phase followed by a 6-h duplication phase, during which additional digits are irreversibly specified in the sequence digit 2, digit 3, digit 4. On average, formation of each digit seems to require between 1 and 2 h. The tissue concentrations, metabolic pattern, and spatial distribution of all- trans-retinoic acid and TTNPB in the limb rapidly reach a steady state, in which the continuous release of the retinoid is balanced by loss from metabolism and blood circulation. Pulse-chase experiments reveal that the half-time of clearance from the bud is 20 min for all-trans- retinoic acid and 80 min for TTNPB. Manipulations that change the experimentally induced steep concentration gradient of TTNPB suggest that a graded distribution of retinoid concentrations across the limb is required during the duplication phase to induce changes in the digit pattern. The extensive similarities between results obtained with retinoids and with polarizing region grafts raise the possibility that retinoic acid serves as a natural "morphogen" in the limb.     

A quantitative analysis of the effect of all-trans-retinoic acid on the pattern of chick wing development

Small, positively charged beads that slowly release known amounts of all-trans-retinoic acid have been implanted below the apical ectodermal ridge at the anterior margin (opposite somite 16) of wing buds of 3 1/2 day-old chick embryos. The continuous release of retinoic acid is shown to create an anteroposterior concentration gradient of retinoic acid in the limb field that is stable with time, despite the fact that this compound is metabolized by the limb tissue. With beads that release increasing amounts of retinoic acid, the normal 234 digit pattern is progressively altered to a 2234, to a 32234, and then to a 432234 pattern. The tissue concentrations of all-trans-retinoic acid required to change the digit pattern in this way range between 1 and 25 nM. When the same amounts of retinoic acid are released from posteriorly implanted beads (placed below the apical ectodermal ridge opposite somite border 19/20 or somite 20), the normal digit pattern is unaffected. Implantations of beads that release all-trans-retinoic acid are thus identical in their effect to grafts of cells from the limb polarizing region, which cause similar dose-dependent changes in the digit pattern when grafted to the anterior margin of the bud (but not when grafted opposite somites 19 or 20). Because of the low concentrations of retinoic acid required for its biological effect, the graded response observed, and the fact that a concentration gradient is established across the limb field, all-trans-retinoic acid closely mimics the putative morphogen that has been postulated to be emitted by polarizing region cells during normal development.     

Making digit patterns in the vertebrate limb

The vertebrate limb has been a premier model for studying pattern formation - a striking digit pattern is formed in human hands, with a thumb forming at one edge and a little finger at the other. Classic embryological studies in different model organisms combined with new sophisticated techniques that integrate gene-expression patterns and cell behaviour have begun to shed light on the mechanisms that control digit patterning, and stimulate re-evaluation of the current models.     

Digit ratio (2D:4D) and behavioral differences between inbred mouse strains

Digit ratio (2D:4D) is a trait, which is sexually differentiated in a variety of species. In humans, males typically have shorter second digits (2Ds) (index fingers) compared to fourth digits (4Ds) (ring fingers) whereas females' fingers are more equal in length. Smaller, more masculine, digit ratios are thought to be associated with higher prenatal testosterone levels, greater sensitivity to prenatal androgens or both. Men with more masculine digit ratios have shown increased ability, achievement and speed in sports and tend to report that they are more physically aggressive. Previous research has shown the same sexually differentiated pattern in the hind paws of laboratory mice as in human hands, males have lower 2D:4D than females. We measured hind paw digit ratio in mice of eight inbred strains. These measurements were made while blind to strain, sex and whether the paw was from the left or right side. We found large differences in digit ratio between the strains and suggest that inbred mice are a promising system for investigating the correlation between digit ratio and behavioral traits.     

Analysis of her1 and her7 mutants reveals a spatio temporal separation of the somite clock module

Somitogenesis is controlled by a genetic network consisting of an oscillator (clock) and a gradient (wavefront). The "hairy and Enhancer of Split"- related (her) genes act downstream of the Delta/Notch (D/N) signaling pathway, and are crucial components of the segmentation clock. Due to genome duplication events, the zebrafish genome, possesses two gene copies of the mouse Hes7 homologue: her1 and her7. To better understand the functional consequences of this gene duplication, and to determine possible independent roles for these two genes during segmentation, two zebrafish mutants her1(hu2124) and her7(hu2526) were analyzed. In the course of embryonic development, her1(hu2124) mutants exhibit disruption of the three anterior-most somite borders, whereas her7(hu2526) mutants display somite border defects restricted to somites 8 (+/-3) to 17 (+/-3) along the anterior-posterior axis. Analysis of the molecular defects in her1(hu2124) mutants reveals a her1 auto regulatory feedback loop during early somitogenesis that is crucial for correct patterning and independent of her7 oscillation. This feedback loop appears to be restricted to early segmentation, as cyclic her1 expression is restored in her1(hu2124) embryos at later stages of development. Moreover, only the anterior deltaC expression pattern is disrupted in the presomitic mesoderm of her1(hu2124) mutants, while the posterior expression pattern of deltaC remains unaltered. Together, this data indicates the existence of an independent and genetically separable anterior and posterior deltaC clock modules in the presomitic mesdorm (PSM).     

Digital dermatoglyphic patterns in a sample of the Nigerian population

Eight hundred Nigerians (400 males and 400 females) were screened for the analysis of digital dermatoglyphic patterns. The frequency distribution of the patterns are 52.09%, 27.67%, 19.20% and 1.13% for ulnar loops, whorls, arches and radial loops respectively. Except for arches, the males have more of the patterns than females. The pattern intensity indices for males and females are 11.2 and 9.9 respectively. Bilateral symmetry is similar in both sexes and the percent distribution is as high as 81.5% and 84% on digit V in males and females respectively.     

Digits lost or gained? Evidence for pedal evolution in the dwarf salamander complex (Eurycea, Plethodontidae)

Change in digit number, particularly digit loss, has occurred repeatedly over the evolutionary history of tetrapods. Although digit loss has been documented among distantly related species of salamanders, it is relatively uncommon in this amphibian order. For example, reduction from five to four toes appears to have evolved just three times in the morphologically and ecologically diverse family Plethodontidae. Here we report a molecular phylogenetic analysis for one of these four-toed lineages--the Eurycea quadridigitata complex (dwarf salamanders)--emphasizing relationships to other species in the genus. A multilocus phylogeny reveals that dwarf salamanders are paraphyletic with respect to a complex of five-toed, paedomorphic Eurycea from the Edwards Plateau in Texas. We use this phylogeny to examine evolution of digit number within the dwarf-Edwards Plateau clade, testing contrasting hypotheses of digit loss (parallelism among dwarf salamanders) versus digit gain (re-evolution in the Edwards Plateau complex). Bayes factors analysis provides statistical support for a five-toed common ancestor at the dwarf-Edwards node, favoring, slightly, the parallelism hypothesis for digit loss. More importantly, our phylogenetic results pinpoint a rare event in the pedal evolution of plethodontid salamanders.     

A SNP streak model for the identification of genetic regions identical-by-descent

The availability of very dense genetic maps is changing in a fundamental way the methods used to identify the genetic basis of both rare and common inherited traits. The ability to directly compare the genomes of two related individuals and quickly identify those regions that are inherited identical-by-descent (IBD) from a recent common ancestor would be of utility in a wide range of genetic mapping methods. Here, we describe a simple method for using dense SNP maps to identify regions of the genome likely to be inherited IBD by family members. This method is based on identifying obligate recombination events and examining the pattern of distribution of such events along the genetic map. Specifically, we use the length of a consecutive set of biallelic markers that have a high probability of having avoided such obligate recombination events. This ;;SNP streak" is derived from subsets of samples within a pedigree and allows us to make statistical inferences about the ancestry of the region(s) containing stretches of markers with these properties. We show that the use of subsets of more than two samples has the advantage of identifying shorter shared subsegments as significant. This mitigates the effects of errors in SNP calls. We provide specific examples of microarray-based SNP data, using a family with a complex pedigree and with a rare form of inherited kidney disease, to illustrate this approach.