Caucasoid Samples Research Articles

Дифференцирующие возможности папиллярных узоров средних фаланг пальцев рук (на примере евразийских популяций)

Introduction. An assessment of the currently known data on intergroup variability of papillary patterns of fingers' middle phalanges suggests the possibility of using these characteristics to differentiate Eurasian populations. Material and methods. The study conducted on the prints of fingers' middle phalanges of 1178 men from 12 ethno-territorial groups of Russia and Kyrgyzstan. These are mainly archival materials represented by impressions of the entire palmar surface of the hand. Therefore, we applied а classification that unites morphologically similar variants to eliminate possible errors in determining the types of skin patterns. Results. Statistically significant differences revealed when comparing the proportions of dermatoglyphic features in Caucasian populations, on the one hand, and mixed Caucasian-Mongoloid or Mongoloid populations, on the other. The occurrence frequencies of straight and hook patterns increase, and the frequencies of distal arc and complex double patterns decrease in the presence of a Mongoloid (or Uralic) component. The results of cluster analysis and multidimensional scaling confirmed the division of populations depending on the presence of a Mongoloid, including Ural, component in their racial composition. Within the main clusters, groups were differentiated according to anthropological similarity and territorial proximity. The skin patterns’ complex of digital middle phalanges is very sensitive to the presence of a Mongoloid (or Uralic) component in Caucasian populations, as well as the main dermatoglyphic features of the hand. The differentiation of samples according to the patterns of the middle phalanges largely corresponds to the division based on classical racial and key dermatoglyphic characteristics. However, as a result of multidimensional scaling, the Volga-Kama populations were located further from the Caucasoid than both Mongoloid samples. Therefore, shares’ distribution of united dermatoglyphic signs in Mongoloid populations requires clarification using additional data. Conclusion. The results of various statistical analyzes allow us to conclude that it is possible to use dermatoglyphic characteristics of digital middle phalanges to differentiate Caucasoid samples and groups with a Mongoloid (or Ural) component. The presence of the Mongoloid component in the groups is accompanied by a decrease in the complexity of the papillary patterns on the middle phalanges. @ 2023. This work is licensed under a CC BY 4.0 license

Haplotype analysis of the HFE gene among populations of Northern Eurasia, in patients with metabolic disorders or stomach cancer, and in long-lived people.

BackgroundPreviously, it was shown that the HFE gene (associated with human hereditary hemochromatosis) has several haplotypes of intronic polymorphisms. Some haplotype frequencies are race specific and hence can be used in phylogenetic analysis. We assumed that analysis of Caucasoid patients—living now in Western Siberia and having diseases associated with dietary habits and metabolic rate—will allow us to understand the processes of possible selection during settling of the northern part of Asia.ResultsHaplotype analysis of Northern Eurasian native and recently settled ethnic groups was performed on polymorphisms rs1799945, rs1800730, rs1800562, rs2071303, rs1800708, rs1572982, rs2794719, rs807209, and rs2032451 of this gene. The CCA haplotype of the rs2071303, rs1800708, and rs1572982 was found to be associated with HLA-A2 (39 %) in Asian populations. Haplotype analysis for the rs1799945, rs1800730, rs1800562, rs2071303, rs1800708, and rs1572982 was performed on Russian patients with some metabolic disorders or stomach cancer and among long-lived people. Decreased frequencies of the TTA haplotype (T in rs2071303, T in rs1800708, and A in rs1572982) were observed in the groups of patients with diseases associated with overweight (fatty liver disease, type 2 diabetes mellitus, or metabolic syndrome + arterial hypertension) as compared with the control sample. We detected significant differences in this haplotype’s frequency between the patients with type 2 diabetes mellitus and Russian adolescents, elderly citizens, and long-lived people (χ2 P value = 0.003, 0.010, and 0.015, respectively).ConclusionsNo significant differences in frequencies of the alleles with mutations in coding regions of the HFE gene (C282Y, H63D, and S65C) were detected between the analyzed patients (with stomach cancer, metabolic syndrome, fatty liver disease, or type 2 diabetes mellitus) and the control Caucasoid sample. Monophyletic origin of H63D (rs1799945) was confirmed in Caucasoids and Northern Asians. The reasons for a sharp increase in the frequency of CCA haplotype of HFE in the Asian race remain unclear.Electronic supplementary materialThe online version of this article (doi:10.1186/s12863-016-0396-z) contains supplementary material, which is available to authorized users.

A rapid mtDNA assay of 22 SNPs in one multiplex reaction increases the power of forensic testing in European Caucasians

We have developed a multiplex mitochondrial (mtDNA) assay of 21 coding region single nucleotide polymorphisms (SNPs) and one control region SNP outside hypervariable region 1 (HVR1) and hypervariable region 2 (HVR2) that can be amplified in a single reverse touchdown polymerase chain reaction. Single base extension using the SNaPshot technique is also carried out as one multiplex. Besides the nine major European haplogroups (i.e. H, I, J, K, T, U, V, W, and X), 16 additional subclades (i.e. N1, X2, X2b, U2'-4/7'-9', J/T, J1, J1c, HV, H1, H1a1, H1c, H3, H4, H6a, H7a H10) can be detected and classified into a phylogenetic mtDNA tree. By analyzing 130 Caucasoid samples from Germany, 36 different haplotypes were found resulting in a power of discrimination of 93.2%. Although 49% of all samples belonged to superhaplogroup H, the most common haplotype, i.e., haplogroup-specific SNPs plus haplogroup unspecific SNPs, had a frequency of only 18%. This assay is applicable for high-throughput mtDNA analysis and forensic mass screening. It will give additional information to the common control region sequencing of HVR1 and HVR2.

Bcl-2 expression in sequential biopsies of potentially malignant oral mucosal lesions assessed by immunocytochemistry.

To examine, for the first time Bcl-2 expression in sequential (autogenous) oral mucosal biopsies taken from the same sites in a gender, risk-factor matched, Caucasoid sample, over a 21-year period. Retrospective immunocytochemical longitudinal study of archival serial biopsies. Computer records were used to identify biopsy specimens derived from 12 patients. These were divided into four groups: (1) Histologically innocuous lesions which remained histologically innocuous. (2) Dysplastic lesions which remained dysplastic. (3) Histologically innocuous lesions which later progressed to squamous cell carcinoma (SCC). (4) Dysplastic lesions which later progressed to SCC. This represented 65 biopsies in total. Bcl-2 expression was studied using mouse antihuman BCL-2 oncoprotein clone 124 (Dako, Denmark). Generally, there was a lack of Bcl-2 immunoreactivity in the epithelium, with one exception in dysplastic epithelium from a group (3) patient. These findings suggest that in our series, Bcl-2 is not expressed early in oral premalignant lesions and appears to contradict previous reports. Possible explanations for this disparity are considered.

The size of the CAG repeat in exon 1 of the androgen receptor gene shows no significant relationship to impaired spermatogenesis in an infertile Caucasoid sample of German origin

The androgen receptor (AR) gene, located on the X-chromosome at Xq11-12, contains in exon 1 a polymorphic CAG repeat which codes for a polyglutamine tract. Contractions of the CAG repeat are said to be related to prostate cancer. In contrast, sizeable expansion of the CAG repeat can cause spinal and bulbar muscular atrophy (SBMA). In infertile patients of Chinese origin and in a Melbourne multinational population impaired sperm production has been postulated to be related to moderate expansions of the polyglutamine tract. In a study of a Swedish population of infertile patients these findings could not be corroborated. The aim of our investigation was to examine the correlation between the length of the CAG repeat and impaired sperm production in an infertile Caucasoid patient sample of German ethnic origin. We found no statistically significant relationship between the size of the CAG repeat or polyglutamine tract and idiopathic impaired sperm production in the population studied. The variability of the results by various investigators may be attributed to different ethnic origins and hence different genetic modifiers of the populations studied and/or to the high probability that these infertile males may represent a heterogeneous group with respect to the causes of defective spermatogenesis.

Human mitochondrial DNA variation and the origin of Basques

The hypervariable segment I of the control region of the mtDNA (positions 16024-16383) was PCR-amplified from mouth scrape and hairs and sequenced in 45 unrelated individuals of pure matrilineal Basque descent. Twenty-seven different sequences were found, of which 21 are unique to the Basques. The allelic partition observed, together with resampling experiments, suggested that much more variation remained to be discovered. The mean pairwise difference in number of nucleotides between individuals was 3-15, a very low value. Moreover, the number of steps for the most parsimonious tree is very low compared to the number of different sequences. Both findings suggest that the Basque population was founded by a few lineages that diverged in a short time span. The number of nucleotide differences between individuals was shown not to be influenced by the distance between their birthplaces, thus validating the sampling strategy used a posteriori. The pairwise difference distribution agreed well with the three-parameter model proposed by Rogers & Harpending (1992). The parameter estimates found for the Basques implied that a demographic expansion (or perhaps two, given the bimodal shape of the distribution) took place sometime between 14500 and 42000 BP which is in agreement with archaeological data. Our sample was compared to other populations for which D-loop sequences were available through the Nei & Miller (1990) distance. In a neighbour-joining tree, all the Caucasoid samples, including the Basques, appeared tightly clustered, whereas African samples were the most distant to the Caucasoids and also the most heterogeneous. Although classical markers, such as blood groups and protein polymorphisms, clearly separate the Basques (and the Sardinians) from other European populations, this distinctiveness was not found using D-loop sequences.

Serum and saliva sex hormone levels in !Kung San men

Serum concentrations of testosterone (Tser), 5 alpha-dihydrotestosterone (DHT), estradiol 17 beta (E2), and free testosterone in saliva (Tsal) were determined by means of the radioimmunoassay method in 114 !Kung San men living in the Bushmanland district of Namibia. The healthy men (mean age 26.4 years) were asked about their dietary habits over the last two months and their acute alcohol intake during the 24 hours preceding the blood and saliva sampling. Although the sex hormone status of the !Kung lies within the range of normal men reported for Caucasoid samples, both Tser and Tsal exhibit relatively low concentrations in comparison to the great majority of published mean values. On the other hand, comparatively high DHT levels point to an elevated 5 alpha-reduction of testosterone to DHT in our sample. Estradiol concentrations show no deviation from normal values reported elsewhere for healthy young men. Different dietary habits of the !Kung lead to significant differences in their sex hormone status: both levels of Tsal and the androgen ratio Tsal/Tser decrease with increasing supplement of the traditional hunter-gatherer diet with domestic and Western food products. The amount of alcohol consumed during the day before the blood and saliva sampling shows a significant effect on the DHT metabolism, and the shorter the time after drinking, the greater decrease of DHT and DHT/E2 can be observed.

Commentary on Rushton's Mongoloid-Caucasoid differences in brain size

Rushton's article claiming that Mongoloids have relatively greater brain size than Caucasoids is reanalyzed. The results reveal that the use of means across 24 military samples rather than individual values within each sample grossly inflates the influence of body weigth on relative brain size. The Caucasoids in this sample have larger absolute cranial capacity and body weight than the Mongoloids. Only after applying an inappropriate statistical correction for body weight does the relative brain-size advantage in Mongoloids emerge. The lighter North American Caucasoids, in comparison to the heavier Caucasoid samples, also have significantly greater relative cranial capacity. Because the relative brain-size pattern can be reproduced within the Caucasoids simply by dividing them according to body weight, there is no justification for claiming a relative brain-size difference between races.

Sharing of MHC haplotypes among apparently unrelated patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

From the study of HLA, complement, and glyoxalase I alleles in 82 Venezuelan individuals belonging to 19 families of mixed ethnic origin having 20 affected newborns with salt-wasting congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency, a total of 38 disease haplotypes and 53 nondisease haplotypes were found. Of the pathological haplotypes 47% were found to share the HLA-B39 or -Bw62 specificities, 55% of them in combination with the BFS, C2C, C4A4, C4B2 (SC42) complotype. The frequencies of HLA-B39 and -Bw62 among the affected haplotypes were 29 and 18% as compared with 6 and 0% among the nondisease haplotypes of the same families. Statistical associations (P less than 0.01) with salt-wasting adrenal hyperplasia were found with the SC42 complotype and with the combination SC42, HLA-B39. These results are markedly different from those reported in the literature which show an "association" at the population level among many Caucasoid samples of HLA-Bw47 and the extended haplotype (HLA-Bw47, DR7,FC91,0) with the salt-wasting form of the disease. Furthermore, four of the unrelated patients reported here were homozygous for all the major histocompatibility complex loci tested, while three others were homozygous for at least two HLA loci. Analysis of the geographical origin of the grandparents indicated clustering of the deficiency carrier HLA haplotypes. This observation, together with the fact that there is an excess of homozygotes among the patients in Venezuela, strongly suggests that salt-wasting 21-OH deficiency congenital adrenal hyperplasia is mostly the result of a founder effect of relatively hyperplasia is mostly the result of a founder effect identity by descent of a few abnormal alleles at the 21-OHB locus in most cases. The mutation marked by HLA-Bw47 was not observed in this population.

The dentition of the Lengua indians of Paraguay.

The crown morphology of 202 dental casts from living Lengua Indians is described and compared with other Amerind, Melanesian, and Caucasoid samples. The Lengua dentition shows a high Mongoloid component with little effects of possible European admixture, thus supporting the theory that despite early Franciscan and Jesuit attempts at missionization, much of the Paraguayan Chaco has remained genetically and culturally relatively intact well into the present century. A finding of note was the apparent sexual dimorphism of the Carabelli cusp, which questions earlier assumptions that no correction for sex need be made in population studies when dealing with this trait. Since mandibular canines show proportionately less wear in the canine distal accessory ridge area than maxillary canines, the value of the incidence of this trait in population and microevolutionary studies is questioned.

The craniofacial pattern of the Lengua Indians of Paraguay

Lateral cephalometric headfilms of 30 male and 30 female Lengua Indians taken in the Chaco area of Paraguay were compared with a sample of 23 male and 25 female South African Caucasoids with excellent occlusion. The most obvious difference noted between the two population groups was the degree of prognathism evident in the Lengua. This was attributed to the generally shorter anterior cranial base in the latter group rather than to the size or forward positioning of their jaws. The significantly larger ANB (Subspinale, Nasion, Supramentale) angle observed in the Lengua was attributed to one or both of two factors, namely, the short anterior cranial base or the clockwise rotation (forward tipping) of the jaws relative to the anterior cranial base. Chinpoint position relative to the anterior cranial base in the Lengua is not much different from that of our Caucasoid sample. The lower incisor teeth in the Lengua, but not the upper ones, are more labially inclined than those of the Caucasoids.

Glyoxalase I polymorphism in South African Bantu-speaking negroids.

The newly described genetic polymorphism of glyoxalase I (GLO) is studied in seven ethnically defined Negroid samples from South Africa (total: n = 843). The allele frequencies between the different Negroid samples studied vary only marginally. However, the allele frequency of GLO1 for the South African Negroid samples combined (i.e., p = 0.259), is highly significantly lower than that for Caucasoid samples.

A study of multiracial malocclusions.

The prevalance of a number of malocclusion traits was investigated for 1,000 modern British caucasoid, 70 medieval British, 60 Anglo-Saxon, 100 negroid and 100 mongoloid dentitions. Marked contrasts were evident in the sagittal, vertical and transverse occlusal and spacing anomalies between the various samples, with dental crowding being particularly prevalent in the modern British caucasoid sample and spacing between the teeth in the Anglo-Saxon sample. The method of quantification of malocclusions was shown to be applicable for other epidemiologic studies.

Polyacrylamide gel patterns of parotid saliva proteins in Caucasoids and Amerindians

Parotid saliva protein samples collected from 69 Caucasoid and 71 Amerindian (Crow Indian Reservation, Montana) donors were subjected to polyacrylamide gel slab electrophoresis, pH 9.0. Coomassie Blue staining revealed a total of 36 distinguishable protein bands at equivalent positions on the gels from samples of both the Caucasoids and Amerindians. Marked variability of parotid protein patterns among both Caucasoids and Amerindians was evident. Seven bands were present in a significantly greater ( p < 0.05 − p < 0.005) proportion of Caucasoid samples, while one band was present in a significantly greater ( p < 0.005) proportion of Amerindian patterns. The average number of protein bands detected in the Amerindian patterns was significantly fewer ( p < 0.005) than that of Caucasoids. “Proline-rich” proteins were detected on additional gels of samples from both Caucasoids and Amerindians. Distinct variability among individuals from both groups was evident also in the occurrence of “proline-rich” parotid proteins. Reactions (bands) indicating “proline-rich” proteins were observed at 10 positions on gels from Caucasoid samples. Significantly fewer ( p < 0.005) “proline-rich” areas were detected on gels from Amerindian than Caucasoid saliva. Four of the “proline-rich” bands were present in a significantly greater ( p < 0.05 − p < 0.005) proportion of Caucasoid than Amerindian patterns. It is concluded that there are not consistent specific differences in parotid saliva protein composition between Caucasians and Amerindians. However, the proportion of subjects in which certain protein bands occur, following separation of the protein by polyacrylamide gel electrophoresis, differs between the two populations.