Caucasoid Subjects Research Articles

Lipid­carbohydrate metabolism and nutrition in the indigenous and non­indigenous population of the north-east of Russia.

Scientific-research center «Arktika» far-eastern branch of the Russian academy of sciences, 685000, Magadan, Russia Young male residents ofMagadan region and Chukotsky Autonomous District aged 17-21, all are representatives of Russia’s northeast ethnic peoples were examined in comparison with Caucasoid subjects born in the north in the p>-2 generation to study the blood lipid and glucose values as well as the dietary structure. In order to ascertain the subjects ’ lipid and carbohydrate basic values, the CardioChek PA biochemical express-analyzer (USA) was used during the study of the capillary blood samples taken from the examinees on empty stomach, 10-12 hours after the last meal. Besides, the program set of “ASPON-nutrition” was used to analyze the subjects ’ daily diets for assessing their dietary structures and nutrition facts. All the examined subjects demonstrated the similar changes in lipid-carbohydrate profile resulted in low fat metabolism and high glucose close to the upper limit of physiological norm. Reliable ethnic and region-related peculiarities in the studied metabolic parameters were found. Of note, that Aboriginal subjects were the highest in the blood glucose. They showed higher values ofLPHD and lower values ofLPLD compared to those of Caucasoid subjects. Significant nutrition irrationalities such as imbalance in macronutrients and energetic deficiency were found. The observed diets contain excess carbohydrates and insufficient protein and fat saturation at lowered daily energetic value for the given age cohort.

The dynamics of the dimensional characteristics of the sella turcica in the subjects above 20 years of age

The objective of the present study was to determine the biological age of the unidentified dead subjects based on the morphometric characteristics of the sella turcica in comparison with other methods available for the purpose in order to narrow the range of the alleged ages of the human remains being examined. The parameters of the sella turcica were measured in the corpses immediately after cephalotomy provided no pathological changes could be identified in the sellar region. A total of 86 skulls of the Caucasoid subjects representing the Eastern-Slavic group at the age varying from 22 to 87 years were available for the examination. The study has demonstrated the undulating dynamics of dimensional characteristics of the sellae turcica during the course of a lifetime. The regression analysis was employed to predict the age of the subjects above 22 years of age based on the measurements of the length and depth of the sella turcica and to classify the sample of interest within a given age period. It is concluded that the morphometric characteristics of the sells turcica can be used as the additional clues for the purpose of age determination in forensic medical investigations.

Facial soft tissue thickness in a sample of Sudanese adults with different occlusions

Facial soft tissue thickness is essential to orthodontists and plastic surgeons for treatment planning, and to forensic anthropologists for facial reconstruction, a process combining science and art to recreate a recognizable face from an unidentified skull. The facial profile, together with the age and sex of a person, is related to facial soft tissue thickness, which is required for accurate facial reconstruction and recognition. Skeletal occlusions in orthodontics are classified according to the basic human facial profiles: straight, convex, and concave or skeletal class I, II, and III, respectively. In the present study, the facial soft tissue thickness of 233 Sudanese subjects (105 men and 128 women), ranging in age from 18 to 35 years, with different facial profiles at 20 landmarks was measured (10 soft tissue and 10 dentoskeletal).Sexual dimorphism was noted, with males having thicker facial soft tissue at all measured points. The facial soft tissue thickness varied among different occlusions. Individuals with skeletal class II occlusion had the thickest lower lip, and class III individuals had the thickest upper lip. In general, the Sudanese sample had a unique spectrum of measurements, with thick upper and lower lips, compared with African and Caucasoid subjects, pointing to the need for ethnic-specific data.

In vivo facial soft tissue thickness measurements for Turkish Subadults

Facial soft tissue thicknesses are mainly used in facial reconstruction for the purpose of forensic identification. Several studies of facial soft tissue thickness (FSTT) in subadults have been published from different ancestral backgrounds such as Caucasoid, African-American, Hispanics and Japanese subjects. However, there is no existing available FSTT data for Turkish subadults. This study reports FSTT data in Turkish subadults of both sexes, aged between 3 and 18. FSTTs were measured at 31 anatomical points on the faces of 450 individuals. A table of mean FSTTs was developed for boys and girls divided into three age groups (3–8; 9–13; 14–18). Differences between boy and girl measurements in three age groups were compared using Student’s t-test. Significant differences were observed at some landmarks in each age group. In order to observe differences among age groups, an ANOVA (one-way analyses of variance) followed by a LSD (least significant difference) Post Hoc test was applied to the variances. The boys showed a general increase in tissue thickness with an increase at all the midline and cheek points. The girls showed increased tissue thickness with age at all points except supraglabella, upper lip, frontal eminence, lateral nasal, sub-orbital and supraglenoid.

The reconstruction of the human body length from the wrist size

The objective of the present study was to develop the regression models for the reconstruction of the human body length from the wrist size taking into consideration the availability of the results of the measurements of the palm fragments or the wrist undergoing muscular contracture. The study included 106 Caucasoid subjects (41 men and 65 women) at the age varying from 18 to 76 years. The following parameters were measured: body length, wrist length, the length of the fingers and phalanges on the back of the hand, palmar length and width, ulnar edge size of the palm. It was shown that the selected longitudinal dimensions of the palm and fingers can be used to estimate the body length as accurately as from the wrist length. The high prognostic value of ulnar edge size of the palm was documented which allows this characteristic to be used in the cases of partial palm destruction or in the wrist with pronounced flexion contracture of the fingers. The most exact equations are those derived from the combination of the results of the measurement of the fingers and the ulnar edge size of the palm. Less accurate equations are based on the palmar dimensions alone and on the total wrist size with the exception of the equation for the wrist length with regard to the subject's sex. The gender information needs to be taken into account if the wrist is preserved to the extent that only the length of the palm and of the IV and V fingers can be measured or if the wrist is sufficiently long and wide (short and wide) and the gender is supposed to be masculine. In contrast, this information should be disregarded if the wrist is long and narrow (short and narrow) and the gender is supposedly feminine.

Three-dimensional facial distances of Northern Sudanese persons from childhood to young adulthood

No current age- and gender-related normative data exist for the dimensions of facial structures in Northern Sudanese subjects. In the current study information about normal sex- and age-related linear distances is provided. The three-dimensional coordinates of 14 landmarks on the facial soft tissues were obtained using a hand-held laser scanner in 653 healthy Northern Sudanese subjects (326 males and 327 females) aged 4–30 years. From the landmarks, 13 linear distances were calculated, and averaged for age and sex. Comparisons were performed by factorial analysis of variance. All analyzed linear soft tissue facial dimensions were significantly larger in men than in women (p < 0.01), except mouth width (ch-ch), upper facial height (n-sn), mandibular body length (pg-go) and width (go-go). All measurements underwent significant modifications as a function of age (p < 0.01), with significant age × sex interactions (p < 0.01) for all linear dimensions except lower face height (sn-pg). Overall, when compared to literature data for African and Caucasoid subjects, several differences were found, pointing to the necessity of ethnic-specific data. Data collected in the present investigation could serve as a database for the quantitative description of human facial morphology during normal growth and development.

Morphometry of the soft tissues of the orbital region in Northern Sudanese persons

The orbital region plays a predominant role in the evaluation of the craniofacial complex. No current normative data exist for Northern Sudanese subjects. In the current study information about normal sex- and age-related dimensions of the orbital region was provided. The three-dimensional coordinates of ten landmarks on the orbital soft tissues were obtained using a hand-held laser scanner in 654 healthy Northern Sudanese subjects aged 4–30 years. From the landmarks, biocular and intercanthal widths, paired height and inclination of the orbit relative to both the true horizontal (head in natural head position) and Frankfurt plane, length and inclination of the eye fissure, the relevant ratios, were calculated, and averaged for age and sex. Comparisons were performed by factorial analysis of variance. All analysed linear soft-tissue orbital dimensions, except intercanthal width and left orbital height, were significantly larger in men than in women (p<0.01). A significant sexual dimorphism was found also for the height-to-width ratios (larger in women in most age groups), the orbital inclinations vs. the true horizontal and Frankfurt plane (both measurements were almost always larger in men than in women), and the right side inclination of the eye fissure vs. the true horizontal (larger in women than in men), while no sex-related differences were observed for the left side inclination of the eye fissure vs. the true horizontal. All measurements but the right side inclination of the eye fissure vs. the true horizontal underwent significant modifications as a function of age, with several significant age×sex interactions. Biocular and intercanthal widths, orbital height, length of the eye fissure, all increased from childhood to young adulthood; in the second decade of life all age-related increments were larger in men than in women. Overall, when compared to literature data for African and Caucasoid subjects, several differences were found, pointing to the necessity of ethnic-specific data. Data collected in the present investigation could serve as a database for the quantitative description of human orbital morphology during normal growth and development. Forensic applications (evaluations of traumas, craniofacial alterations, teratogenic-induced conditions, facial reconstruction, ageing of living and dead people, personal identification) may also benefit from age- and sex-based data banks.

Identification of two new HLA‐DRB1 alleles, DRB1*040405 and DRB1*1190

We describe here two novel DRB1 alleles, officially named *040405 and *1190. DRB1*040405 differs from DRB1*0404 for one point mutation at codon 72 with no coding changes. DRB1*1190 is identical to DRB1*110101 except for a nucleotide substitution at codon 24 which causes an aminoacidic mutation from valine to methionine. Over time we have been witnessing the identification of a great number of new HLA alleles. DRB1 allelic variability is mostly present in the second exon and more that 760 alleles have been so far identified. Here, we report the description of two novel DRB1 alleles, named *040405 and *1190, and identified in two Caucasoid subjects.

À propos d’un cas exceptionnel de chéloïdes spontanées

A 21-year-old woman presented with keloids on her back and her chest. All these scars appeared spontaneously without previous trauma, dermatologic disease or surgery. The spontaneous keloids are lesions rarely described in caucasoid subjects. Their exact physiopathology is still unknown. After a brief review of the literature, the therapeutic strategies will be described.

Haplotype analysis of XRCC1 (at codons 194 and 399) and susceptibility to breast cancer, a meta-analysis of the literatures

To clarify the association between XRCC1 haplotypes and susceptibility to breast cancer, a meta-analysis of case-control studies were conducted. Eligible studies were identified by searching several databases for relevant reports published before March 2010. In total, 10 studies were included in the present meta-analysis. XRCC1 haplotypes for Arg194Trp and Arg399Gln polymorphisms were included in the analysis. The association was measured using random-effect model or fixed-effect model odds ratio (OR) combined with 95% confidence intervals (CIs) according to the between studies' heterogeneity. Large between-study heterogeneity was observed (Q = 25.587, df = 9, P < 0.001). The meta-analysis showed a borderline increased risk of breast cancer associated with the Arg194-Gln399 haplotype versus the Arg194-Arg399 haplotype (OR = 1.07, 95% CI: 1.01-1.14). There was no significant association between XRCC1 haplotypes and risk of breast cancer among Caucasoid subjects. In the next step, studies were classified according to geographical locations. Studies reported form Western populations did not show heterogeneity, and the Arg194-Gln399 haplotype was not associated with risk of breast cancer in comparison with the Arg194-Arg399 haplotype (OR = 1.02, 95% CI: 0.95-1.09). Among studies reported form Asian countries, significant heterogeneity was observed. After excluding of one study which did not show linkage disequilibrium, heterogeneity between studies decreased and haplotype Arg194-Gln399 revealed significant association with increased risk of breast cancer compared with haplotype Arg194-Arg399 (OR = 1.26, 95% CI: 1.04-1.50). There was no significant association between Trp194-Arg399 haplotype and risk of breast cancer, neither in Western nor Asian countries. The present meta-analysis has indicated that the Arg194-Gln399 haplotype of XRCC1 might be a risk factor for breast cancer in Asian countries.

The shortness of Pygmies is associated with severe under-expression of the growth hormone receptor

The stature is a highly heritable trait controlled by genetic and environmental factors. The African Pygmies represent a paradigmatic example of non-disease-related idiopathic short stature (ISS), showing a similar endocrine profile of Caucasian individuals with ISS. Pygmy children show normal anthropometric and endocrine parameters until puberty, while adult Pygmies show normal baseline and post-stimulation serum growth hormone (GH) levels but low values of baseline serum GH-binding protein (GHBP) and insulin-like growth factor-I (IGF-I). This discrepancy suggests a defective response to GH occurring in adulthood since Pygmies lack both the pubertal serum IGF-I surge and the growth spurt. However, sequencing of the key genes of the GH–IGF-I axis failed to identify Pygmy specific variants or haplotypes. We therefore aimed at assessing whether the quantitative gene expression profile of two key genes of the GH–IGF-I axis, GH and GHR, was also similar in low-stature and normal stature populations. We showed that the GH gene expression is 1.8-fold reduced and the GH receptor ( GHR) gene expression is 8-fold reduced in adult Pygmies in comparison with sympatric adult Bantu, and that this reduction is not associated with sequence variants of the GHR gene. The marked decrease of the GHR expression in Pygmies is associated with reduced serum levels of the IGF-I and GHBP. Our results, documenting a markedly reduced GHR gene expression in adult Pygmies, could contribute to elucidate the mechanisms involved in ISS in Caucasoid subjects.

The Rising Incidence of Type 1 Diabetes Is Accounted for by Cases With Lower-Risk Human Leukocyte Antigen Genotypes

OBJECTIVE—The rising incidence of type 1 diabetes has been attributed to environment, implying a lesser role for genetic susceptibility. However, the rise could be accounted for by either more cases with classic high-risk genes or by cases with other risk genes. Separately, for any degree of genetic susceptibility, age at presentation may decrease in a permissive environment. To examine these possibilities, human leukocyte antigen (HLA) class II DRB1 genes known to confer risk for type 1 diabetes were analyzed in relation to year of birth and age at diagnosis over the last five decades.RESEARCH DESIGN AND METHODS—Caucasoid subjects (n = 462) diagnosed with type 1 diabetes before age 18 between 1950 and 2005 were DRB1 genotyped.RESULTS—Mean ± SD age at diagnosis, 8.5 ± 4.5 years, did not differ across decades. Recent diagnosis was associated with a lower proportion but unchanged incidence of the highest-risk DRB1 genotype DR3,4 (2000–2005, 28% vs. 1950–1969, 79%; P < 0.0001) and a higher proportion of lower-risk genotypes DR4,X and DR3,X (2000–2005, 48% vs. 1950–1969, 20%; P = 0.0002). The frequency of the DRX,X genotype was low (≤3%) across decades. Recent birth was associated with a lower age at diagnosis for lower risk DR3,3 and DR4,4 (P < 0.0001) and DR4,X (P < 0.0001) and DR3,X (P = 0.015) genotypes but not for DR3,4.CONCLUSIONS—The rising incidence and decreasing age at diagnosis of type 1 diabetes is accounted for by the impact of environment on children with lower-risk HLA class II genes, who previously would not have developed type 1 diabetes in childhood.

Molecular genetics of human immune responsiveness to allergens.

Specific immune responsiveness to certain highly purified allergens is significantly associated with particular HLA-D types. In one striking example, IgE and IgG responsiveness to the ragweed Amb V (Ra5) allergens is strongly associated with HLA-DR2/Dw2. We studied the HLA-D gene sequences of 67 Caucasoid subjects. All Dw2+ (Dw2 +/- in one case) high responders to Amb a V, before or after high-dose ragweed immunotherapy, possessed typical DRB1*2.2 and DRB3*2.2 (Dw2-associated DR beta) gene sequences. Their DQB1 genes all had typical Dw2-associated DQB1*1.2 sequences, with two exceptions (DQB1*1.21 and DQB1*1.18, that are usually associated with Dw21 and Dw18, respectively). The finding of these unusual sequence combinations in these Amb a V responders implicates a DR alpha beta I2.2 or a DR alpha beta III2.2 molecule as the major Amb a V Ir gene product. This conclusion is supported by our finding of one non-responder (after prolonged immunotherapy) who possessed the DQ1.2, but not the DR2.2, sequences. In ragweed-allergic subjects further data suggest that a DR2.2 molecule is generally a necessary and almost always a sufficient requirement for high Amb a V responsiveness. An Amb a V-specific T cell clone obtained from a Dw2+ subject was DR-restricted according to inhibition studies using anti-HLA-D monoclonal antibodies. Also, antigen-presenting cells that were DR2.2+ or DR2.12+, but not DR2.21+ or DR2.22+, were able to present antigen to the cloned T cells, implicating certain DR2 molecules as restriction elements. In similar studies using the rye grass allergen Lol p III we obtained preliminary data implicating the DR beta I sequence E9 YSTS13 (found in DR3, DR5 and DRw6 genotypes) in the recognition of a major Lol p III agretope. Since Lol p I and II are homologous to Lol p III in one region of their amino acid sequences the EYSTS sequence may also be involved in the recognition of similar agretopes of these molecules. These and other studies demonstrate the power of the allergy model for genetic and molecular studies of the human immune response.

A stylized computational model of the head for the reference Japanese male

Computational models of human anatomy, along with Monte Carlo radiation transport simulations, have been used by Snyder et al. [MIRD Pamphlet No. 5, revised (The Society of Nuclear Medicine, New York, 1978)], Cristy and Eckerman [ORNL/TM-8381/VI, Oak Ridge National Laboratory, Oak Ridge, TN (1987)] and Zubal et al. [Med. Phys. 21, 299-302 (1994)] to estimate internal organ doses from internal and external radiation sources. These were created using physiological data from Caucasoid subjects but not from other races. There is a need for research to determine whether the obvious differences from the Caucasoid anatomy make these models unsuitable for estimating the absorbed dose in other races such as the Mongoloid. We used the cranial region of the adult Japanese male to represent the Mongoloid race. This region contains organs that are highly sensitive to radiation. The cranial region of a physical phantom produced by KYOTO KAGAKU Co., LTD. using numerical data from a Japanese Reference Man [Tanaka, Nippon Acta. Radiol. 48, 509-513 (1988)] was used to supply the data for the geometry of a stylized computational model. Our computational model was constructed with equations rather than voxel-based, in order to deal with as small a number of parameters as possible in the computer simulation experiment. The accuracy of our computational model was checked by comparing simulated experimental results obtained with MCNP4C with actual doses measured with thermoluminescence dosimeters (TLDs) inside the physical phantom from which our computational model was constructed. The TLDs, whose margin of error is less than +/-10%, were arranged at six positions. Co-60 was used as the radiation source. The irradiated dose was 2 Gy in terms of air kerma. In the computer simulation experiments, we used our computational model and Cristy's computational model, whose component data are those of the tissue substitute materials and of the human body as published in ICRU Report 46. The observed absorbed dose values (Gy) at all six points were calculated as the percentage difference between MCNP4C simulation and the TLDs. In our computational model, the average values of all the percentage differences were 6.0+/-4.0% (tissue substitute materials) and 7.6+/-6.6% (ICRU Report 46), respectively. In Cristy's model, the corresponding values were 20.4+/-3.8% (tissue substitute materials) and 21.0+/-4.1% (ICRU Report 46), respectively. Considering the margin of error in the radiation sensitivity of the TLDs, this study validates our computational model as a test object for radiation dosimetry studies.

Analysis of IL-12 p40 subunit gene and IFN-gamma G5644A polymorphisms in Idiopathic Pulmonary Fibrosis.

BackgroundGenes encoding cytokine mediators are prime candidates for genetic analysis in conditions with T-helper (Th) cell disease driven imbalance. Idiopathic Pulmonary Fibrosis (IPF) is a predominantly Th2 mediated disease associated with a paucity of interferon-gamma (IFN-γ). The paucity of IFN-γ may favor the development of progressive fibrosis in IPF. Interleukin-12 (IL-12) plays a key role in inducing IFN-γ production. The aim of the current study was to assess whether the 1188 (A/C) 3'UTR single nucleotide polymorphism (SNP) in the IL-12 p40 subunit gene which was recently found to be functional and the 5644 (G/A) 3' UTR SNP of the IFN-γ gene were associated with susceptibility to IPF.MethodsWe investigated the allelic distribution in these loci in UK white Caucasoid subjects comprising 73 patients with IPF and 157 healthy controls. The SNPs were determined using the polymerase chain reaction in association with sequence-specific primers incorporating mismatches at the 3'-end.ResultsOur results showed that these polymorphisms were distributed similarly in the IPF and control groupsConclusionWe conclude that these two potentially important candidate gene single nucleotide polymorphisms are not associated with susceptibility to IPF.

Immunogenetics of two new HLA alleles: A*0108 and B*4031.

Two new alleles, HLA-A*0108 and B*4031, were identified in north-western European Caucasoid subjects. A*0108 differed from A*010101 by a single substitution (C to T) at position 216 in exon 3, resulting in an amino acid difference of Arg to Trp at position 163. It was present on a haplotype with B*1501/60/70/71; Cw*0303; DRB1*1301; DRB3*0202; DQA1*0103; DQB1*0603 and its product reacted as a normal HLA-A1 specificity. B*4031 differed from B*4001 by two nucleotides in exon 3 (positions 20 (G to C) and 69 (A to G)) resulting in two amino acid differences (Arg to Ser at position 97 and Asn to Asp at position 114). It was found on a haplotype with HLA-A*03; Cw*0304; DRB1*0404/32; DRB4*0101/3/5; DQA1*03; DQB1*0302 and has the HLA-B60 specificity. Both alleles have frequencies of < 0.0002 in the largely north-western European Caucasoid blood donor population resident in Wales.

Immunogenetics of the rare HLA-B allele B*4408.

The nucleotide sequence of exons 2 and 3 of B*4408 has been confirmed. This allele has now been found in five, apparently unrelated, north-western European Caucasoid subjects, residing in Wales, on HLA haplotypes bearing: A*0201, Cw*0501 with DRB1*0401, DQA1*03, DQB1*0301 in four instances and DRB1*0701, DQA1*0201, DQB1*0202 in one instance. The unique serological reactivity of 'HLA-B44BO' was established using up to nine B*4408 subjects and was easily identified using a variety of B44 and B62 antisera. The phenotype and gene frequencies of B*4408, in a sample of 40 473 subjects residing in Wales, were 0.01235% and 0.00006, respectively.

Histocompatibility leucocyte antigens and closely linked immunomodulatory genes in autoimmune thyroid disease.

Associations between autoimmune thyroid disease and antigens of the major histocompatibility complex (MHC) have long been recognized. Graves' disease (GD) is associated with the histocompatibility leucocyte antigen (HLA) haplotype A*01-B*0801-DRB1*0301-DQA1*0501-DQB1*0201 (or B8/DR3) whereas autoimmune hypothyroidism (AIH) has been weakly associated with HLA DRB1*03, *04 and *11/*12 alleles (or DR3, DR4 and DR5). However, the presence of important immunoregulatory genes within the HLA Class II and III regions raises the possibility that these genes harbour the primary susceptibility locus. This study examines genetic variation across the MHC in UK Caucasoid subjects with autoimmune thyroid disease. DNA extracted from venous blood samples from 215 patients with autoimmune thyroid disease (GD 135, AIH 77) and 267 control subjects was analysed. Genotyping was performed using polymerase chain reaction and sequence specific primers for HLA Class I and II alleles and polymorphisms within the TAP1, TAP2, tumour necrosis factor (TNF), lymphotoxin alpha (LTalpha), heat shock protein (HSP)70-1, HSP70-2 and HSP70-Hom genes. For GD, the strongest association was with DRB1*03 [56% patients positive vs. 24% controls, P = 2 x 10(-10), odds ratio (OR) 4.0]. Positive associations were also seen for DRB1*03 linked alleles, B*0801, DRB3*01/02, DQA1*05, DQB1*02 and DPB1*0101 (OR 2.3-3.4). Specific TNF and LTalpha alleles were strongly associated with GD (Pc = 3 x 10(-5) and 0.001) and weak associations were seen for HSP70-1 + 190C and HSP70-2 + 1267G polymorphisms (Pc = 0.05 and 0.01). These associations were not significant when DRB1*03 status was considered. Patients with AIH showed only a weak association with DQB1*03 (P = 0.02). These results show that, of the polymorphisms tested within the MHC, GD is most strongly associated with DRB1*03, and associations with other immunoregulatory genes previously described in Caucasian subjects most likely reflect linkage disequilibrium. AIH differs from GD, being less influenced by the MHC region.

The association between HLA-A alleles and an Alu dimorphism near HLA-G.

The AluYb8 sequences are a subfamily of short interspersed Alu retroelements that have been amplified within the human genome during recent evolutionary time and are useful polymorphic markers for studies on the origin of human populations. We have identified a new member of the Yb8 subfamily, AluyHG, located between the HLA-H and -G genes and 88-kb telomeric of the highly polymorphic HLA-A gene within the alpha block of the major histocompatibility complex (MHC). The AluyHG element was characterised with a view to examining the association between AluyHG and HLA-A polymorphism and reconstructing the history of the MHC alpha block. A specific primer pair was designed for a simple PCR assay to detect the absence or presence (dimorphism) of the AluyHG element within the DNA samples prepared from a panel of 46 homozygous cell-lines containing complete or recombinant ancestral haplotypes (AH) of diverse ethnic origin and 92 Caucasoid and Asian subjects on which HLA-A typing was available. The AluyHG insertion was most strongly associated with HLA-A2 and, to a lesser degree with HLA-A1, -A3, -A11, and A-19. The gene frequency of the AluyHG insertion for 146 Caucasians and 94 Chinese-Han was 0.30 and 0.32 and there was no significant difference between the observed and expected frequencies. The results of the association studies and the phylogenetic analysis of HLA-A alleles suggest that the AluyHG sequence was integrated within the progenitor of HLA-A2, but has been transferred by recombination to other human ancestral populations. In this regard, the dimorphic AluyHG element is an important diagnostic marker for HLA association studies and could help in elucidating the evolution and functions of the MHC alpha block and polymorphism within and between ancestral haplotypes.

Relation of optic disc topography and age to thickness of retinal nerve fibre layer as measured using scanning laser polarimetry, in normal subjects

AIMSTo evaluate the relation of the optic nerve head topographic measurements and age with the thickness of the retinal nerve fibre layer (RNFL) in normal Caucasoid subjects by means of...