满族青少年头面部特征分析

本文对居住在吉林省永吉县和伊通满族自治县的１０１１名满族青少年的头面测量性和非测量性特征进行了观察和测量。满族青少年的头型以过短过型为多见。面型多数为中面型及阔面型。鼻型以中鼻型及狭鼻型多见,与汉族儿童以阔鼻型多见有差异。从非测量性特征看,多数有发育不等的蒙古褶,眼裂上斜,鼻梁较直、鼻翼发育不明显,鼻根高度中等偏低。主要特征与满族成人头面部特征差异不明显。     

郑州孙庄遗址仰韶文化居民的颅骨形态

孙庄遗址位于河南省郑州市中原区孙庄村南,是分布在黄河中下游地区的一处仰韶文化晚期遗存。通过对遗址出土的10例保存基本完整的颅骨进行测量与观察后,得出以下结论：孙庄组的颅面部特征为高颅型与狭颅型相结合的颅型特点、中等偏大的面部扁平度、狭额型、中鼻型、低眶型、中面角属平颌型、犬齿窝和鼻根凹欠发达、颅顶缝简单等。孙庄组古代居民颅骨的形态特征归属于亚洲蒙古人种范围。颅骨形态学特征分析结果显示,孙庄组与亚洲蒙古人种近代华南组（R=1.26）关系最为密切,与近代蒙古组（R=1.80）和通古斯组（R=2.06）关系疏远;在与各新石器时代组的对比中,孙庄男性组与仰韶合并组（R=1.00）、庙子沟组（R=1.00）、西山组（R=1.07）、大汶口组（R=1.13）关系接近,孙庄女性组最接近于大汶口组（D_ij=3.10）、徐堡组（D_ij=4.58）和西山组（D_ij=4.60）。综上,我们可知分布在黄河中下游地区的仰韶时代中晚期人群在颅面部特征上颇为一致,具有较高的同源性,应同属于“古中原类型”居民。     

EDARV370A对新疆维吾尔族人群面部及耳朵形态的效应

外异蛋白受体基因(ectodysplasin A receptor,EDAR)是调控外胚层发育的重要基因。其关键错义突变EDARV370A的衍生等位基因370A在东亚和美洲原住民中具有很高的频率,但在非洲和欧洲罕见,该突变造成这些人群许多外胚层发育衍生表型的差异,包括东亚人特有的较直且厚的头发、较多的外泌汗腺、女性较小的乳房及铲形门齿等。目前,EDARV370A与同为外胚层衍生表型的人类头面部及耳部形态特征的关联尚不十分明确。本研究在715例新疆维吾尔族亚欧混合人群中,进行了EDARV370A与一系列系统的面部形态特征及耳朵形态表型的关联分析,以期更全面系统地理解EDARV370A对面部和耳朵形态的影响。研究表型包括利用本课题组近期发表的对三维面部照片自动化面部地标点标记方法获得的136个面部定量表型、1个下巴类型的定序分类表型以及6个耳朵形态的定序分类表型。研究发现EDARV370A与8个面部形态的定量表型、下巴类型以及3个耳朵形态定序分类表型显著相关(多重检验校正后P<0.05)。本研究结果进一步明确了EDARV370A的遗传多效性及其在亚欧混合人群中对面部和耳朵形态的影响。     

俄罗斯族体质特征分析

本文报道了内蒙古地区336名俄罗斯族成年人(男186,女150)的体质特征,包括9项形态观察项目,58项测量项目,38项指数及其分型,并与国内外一些群体的体质特征进行了比较。俄罗斯族的主要特征是:绝大多数人具上眼睑褶皱,约1/3的人有蒙古褶。头圆、高、阔,鼻根高,鼻翼中等,鼻狭长,黑发与浅黄肤色较多,眼色的性别差异明显。男性平均身高167.7cm,女性平均身高155.9cm。宽胸型、宽肩型、宽骨盆型、中躯干型、中腿型出现率较高,指距长,体型多属矮胖型,女性更明显。俄罗斯族体质特征与乌孜别克族较接近,其体格健壮程度相对接近俄罗斯北部地区人群。     

维吾尔族的体质特征研究

１９９１年５月,对新疆伊梨维吾尔族５２９人（男２７１,女２５８）进行了活体观察和测量。观察２９项,测量９２项。维吾尔族的主要特征是：黑直发,黑褐色眼,眉毛较浓密,大都有上眼脸皱褶,鼻根中等偏高,大多为直形鼻,鼻尖向前,鼻基部下垂,大多有达尔文结节,耳垢湿型。头面部指数分型,属于特短头型,阔头型和高头型。身材中等偏高,平均身高男１６８．６毫米,女１５７８．８毫米。     

湖南瓦乡人体质特征研究

本文对308例(男156例,女152例)世居在湖南省沅陵县的瓦乡人进行了70项体质人类学指标(观察项目25项,测量项目45项)的调查, 并计算了21项体质指数, 对部分指数进行了分型统计。结果表明: 湖南瓦乡人毛发浓密, 黑而平直; 上睑皱褶出现率较高, 眼裂开度中等, 上斜型眼裂; 少蒙古褶; 鼻根较高, 鼻梁男多直形、女多凹形, 鼻基上翘, 鼻翼高度中等; 口裂宽度中度, 上唇皮肤部多正唇, 红唇较厚; 耳壳多椭圆或卵圆形, 耳垂形状多圆形。体质特征表现为身材矮短, 体型中间型; 窄肩型; 中腿型; 超狭面型; 圆头型、高头型、中头型; 中鼻型。与我国南方其他27个少数民族群体的头面部及身高10项测量值进行聚类分析, 结果显示湖南瓦乡人体质特征与云南独龙族及拉祜族最接近, 与广西傈僳族、广西侗族及湘西土家族次之。湖南瓦乡人属于蒙古人种的南亚类型, 具有现代黄种人的容貌特征。     

偏突颌畸形患者手术前后面部软组织的三维测量研究

目的:探讨偏突颌畸形患者手术后面部软组织变化规律,明确其正侧面部对称性改变及各标志点变化范围,以指导手术方案设计。方法:收集于我科行正畸正颌联合治疗的15例偏突颌畸形患者,分别在正颌手术前后采集患者面部软组织三维扫描数据,建立统一坐标系,测量术前和术后软组织解剖标志点的坐标变化。统计分析不对称性系数及各标志点变化,比较术前术后数据。结果:患者手术前后面部对称性改变结果中,颏前点、颏顶点、颏下点、双侧鼻翼基点、双侧颊点的不对称系数比较差异有统计学意义(P0.05)。患者正面像中除上唇缘点外各选择标志点水平方向的坐标变化均有统计学意义(P0.05),且可见颏顶点、颏下点、双侧鼻翼基点呈显著变化(P0.001),说明其面下1/3对称性得到改善,各标志点纠偏程度也整体呈自上而下的逐渐增强的变化趋势。结论:正颌手术能够有效改善偏突颌畸形患者面部软组织的不对称性。     

基于地基激光雷达点云的植被表型特征测量

植物表型是基因型与外界环境共同作用的结果。精确测量植物表型对于植物生理特征与功能性状研究具有重要意义。本研究以加拿大一枝黄花(Solidago canadensis)为对象,对20株植株进行3个月室内培养,各月利用地基激光雷达扫描(terrestrial Li DAR scanning,TLS)系统对实验植株进行多站扫描和点云融合,实现对植株生长过程的连续观测。对于扫描获取的离散点云,利用多端点三维坐标重构法获取植株高度,并基于叶片点云的Delaunay三角网重构叶片表面,获得植株的真实高度、叶面积、叶倾角和方位角等结构参量。对比手动测量结果,发现基于点云重构获得的植株高度与真实植株高度对比,二者间相似性的决定系数(R2)为0.991,叶面积、叶倾角、方位角相似性R2分别为0.989、0.949和0.871;基于TLS点云重构法实现了非破坏性的植物表型测量,能够获得高精度的植物表型特征;多时相扫描能精确监测植物生长过程的表型特征变化。     

内蒙古3种生态型扁蓿豆遗传多样性与亲缘关系的分析

采用SSR分子标记结合21个表型性状对来自内蒙古3种生态型扁蓿豆种质资源的遗传多样性和亲缘关系进行了分析.结果表明:3种生态型的22份扁蓿豆材料在考察的4个质量性状上差异明显;在17个数量性状上,总体变异程度为黄花型扁蓿豆>扁蓿豆>细叶扁蓿豆;表型性状的遗传相似系数在31.59～113.27间,变异系数为43.30%.SSR分析结果显示,18对引物平均多态性比率为80.09%,引物平均等位位点数为6.06,位点多态性信息含量平均为0.32,遗传相似系数在0.37～0.47间,变异系数为61.80%.表型性状聚类、SSR分子标记聚类及主成分分析结果均显示,黄花型扁蓿豆和扁蓿豆的亲缘关系较近,与细叶扁蓿豆的亲缘关系较远.     

刺萼龙葵种群在中国不同分布地区的表型变异

外来有害植物刺萼龙葵(Solanum rostratum)又名黄花刺茄, 已扩散至中国多省, 各地的种群在表型上存在差异。为揭示刺萼龙葵在中国不同分布区表型变异产生的原因及变异规律, 该文以来自中国9个地区的刺萼龙葵种群的种子为材料, 进行同质生物园种植。通过对营养和生殖器官共10个表型性状进行严格细致的测量, 并采用单因素方差分析(one-way ANOVA)、变异系数分析、主成分分析、聚类分析(UPGMA)和相关性分析等数理方法, 分析了各个种群的表型变异。结果表明: (1)来自不同种群的刺萼龙葵在10个性状上差异均极显著(p < 0.01), 表明种群间的性状差异具有遗传上的稳定性; (2)营养性状平均变异系数(CV = 18.2%)显著高于花部性状(CV = 9%), 结合主成分分析的结果, 可得出冠幅、 花冠直径、节间距以及株高是决定表型变异的主要代表性状; (3)种群间的聚类分析将刺萼龙葵的9个种群划分为3类, 表型性状并没有依地理距离而聚类; (4)地理因子中, 对性状影响最大的是海拔, 其次是经度, 最后是纬度。     

Optimal Eye-Gaze Fixation Position for Face-Related Neural Responses

It is generally agreed that some features of a face, namely the eyes, are more salient than others as indexed by behavioral diagnosticity, gaze-fixation patterns and evoked-neural responses. However, because previous studies used unnatural stimuli, there is no evidence so far that the early encoding of a whole face in the human brain is based on the eyes or other facial features. To address this issue, scalp electroencephalogram (EEG) and eye gaze-fixations were recorded simultaneously in a gaze-contingent paradigm while observers viewed faces. We found that the N170 indexing the earliest face-sensitive response in the human brain was the largest when the fixation position is located around the nasion. Interestingly, for inverted faces, this optimal fixation position was more variable, but mainly clustered in the upper part of the visual field (around the mouth). These observations extend the findings of recent behavioral studies, suggesting that the early encoding of a face, as indexed by the N170, is not driven by the eyes per se, but rather arises from a general perceptual setting (upper-visual field advantage) coupled with the alignment of a face stimulus to a stored face template.     

Geometrical features of lips using the properties of parabola for recognizing facial expression

Various real-time applications such as Human–Computer Interactions, Psychometric analysis, etc. use facial expressions as one of the important parameters. The researchers have used Action Units (AU) of the face as feature points and its deformation is compared with the reference points on the face to estimate the facial expressions. Among many parts of the face, features from the mouth contribute largely to all the well-known emotions. In this paper, the parabola theory is used to identify and mark various points on the lips. These points are considered as feature points to construct feature vectors. The Latus Rectum, Focal Point, Directrix, Vertex, etc. are also considered to identify the feature points of the lower lips and upper lips. The proposed approach is evaluated on benchmark datasets such as JAFFEE and Cohn–Kanade dataset and it is found that the performance is encouraging in understanding the facial expressions. The results are compared with contemporary methods and found that the proposed approach has given good classification accuracy in recognizing facial expressions.     

Growth changes in measurements of upper facial positioning

Growth changes in the position of the midline upper face are examined for samples of Pan troglodytes, Gorilla gorilla, and modern humans. Horizontal and vertical distances between nasion and the anterior end of the cribriform plate are plotted against stage of dental development. Kendall's nonparametric correlations between facial positioning and stage of dental development are tested for significance. In African apes, the upper face becomes more projecting and positioned higher relative to the anterior cranial base. The extent of this horizontal and vertical separation reflects primarily facial size. In modern humans, the upper face becomes more projecting but is relatively stable in its vertical position. Comparison of Pan and modern human crania in the youngest dental age category indicates that the upper face of modern humans is positioned lower early in postnatal life. The position of the upper face (glabella) relative to the anterior and posterior cranial base is presented for several fossil hominid crania. The fossil crania are similar to Pan and modern humans in facial projection relative to the anterior cranial base. However, glabella is positioned low in the fossil crania. Total facial projection (relative to hormion) for Sts 5 is similar to the mean for Gorilla. Fossil Homo and robust australopithecine crania display very projecting upper faces. We suggest that the upper face of Homo is projecting due to the length of the anterior cranial fossa, while robust australopithecines possess a thick frontal bone.     

Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position

Craniofacial morphology is highly heritable, but little is known about which genetic variants influence normal facial variation in the general population. We aimed to identify genetic variants associated with normal facial variation in a population-based cohort of 15-year-olds from the Avon Longitudinal Study of Parents and Children. 3D high-resolution images were obtained with two laser scanners, these were merged and aligned, and 22 landmarks were identified and their x, y, and z coordinates used to generate 54 3D distances reflecting facial features. 14 principal components (PCs) were also generated from the landmark locations. We carried out genome-wide association analyses of these distances and PCs in 2,185 adolescents and attempted to replicate any significant associations in a further 1,622 participants. In the discovery analysis no associations were observed with the PCs, but we identified four associations with the distances, and one of these, the association between rs7559271 in PAX3 and the nasion to midendocanthion distance (n-men), was replicated (p = 4 × 10(-7)). In a combined analysis, each G allele of rs7559271 was associated with an increase in n-men distance of 0.39 mm (p = 4 × 10(-16)), explaining 1.3% of the variance. Independent associations were observed in both the z (nasion prominence) and y (nasion height) dimensions (p = 9 × 10(-9) and p = 9 × 10(-10), respectively), suggesting that the locus primarily influences growth in the yz plane. Rare variants in PAX3 are known to cause Waardenburg syndrome, which involves deafness, pigmentary abnormalities, and facial characteristics including a broad nasal bridge. Our findings show that common variants within this gene also influence normal craniofacial development.     

Detecting Genetic Association of Common Human Facial Morphological Variation Using High Density 3D Image Registration

Human facial morphology is a combination of many complex traits. Little is known about the genetic basis of common facial morphological variation. Existing association studies have largely used simple landmark-distances as surrogates for the complex morphological phenotypes of the face. However, this can result in decreased statistical power and unclear inference of shape changes. In this study, we applied a new image registration approach that automatically identified the salient landmarks and aligned the sample faces using high density pixel points. Based on this high density registration, three different phenotype data schemes were used to test the association between the common facial morphological variation and 10 candidate SNPs, and their performances were compared. The first scheme used traditional landmark-distances; the second relied on the geometric analysis of 15 landmarks and the third used geometric analysis of a dense registration of ∼30,000 3D points. We found that the two geometric approaches were highly consistent in their detection of morphological changes. The geometric method using dense registration further demonstrated superiority in the fine inference of shape changes and 3D face modeling. Several candidate SNPs showed potential associations with different facial features. In particular, one SNP, a known risk factor of non-syndromic cleft lips/palates, rs642961 in the IRF6 gene, was validated to strongly predict normal lip shape variation in female Han Chinese. This study further demonstrated that dense face registration may substantially improve the detection and characterization of genetic association in common facial variation.     

Does My Face FIT?: A Face Image Task Reveals Structure and Distortions of Facial Feature Representation

Despite extensive research on face perception, few studies have investigated individuals’ knowledge about the physical features of their own face. In this study, 50 participants indicated the location of key features of their own face, relative to an anchor point corresponding to the tip of the nose, and the results were compared to the true location of the same individual’s features from a standardised photograph. Horizontal and vertical errors were analysed separately. An overall bias to underestimate vertical distances revealed a distorted face representation, with reduced face height. Factor analyses were used to identify separable subconfigurations of facial features with correlated localisation errors. Independent representations of upper and lower facial features emerged from the data pattern. The major source of variation across individuals was in representation of face shape, with a spectrum from tall/thin to short/wide representation. Visual identification of one’s own face is excellent, and facial features are routinely used for establishing personal identity. However, our results show that spatial knowledge of one’s own face is remarkably poor, suggesting that face representation may not contribute strongly to self-awareness.     

A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans

Inter-individual variation in facial shape is one of the most noticeable phenotypes in humans, and it is clearly under genetic regulation; however, almost nothing is known about the genetic basis of normal human facial morphology. We therefore conducted a genome-wide association study for facial shape phenotypes in multiple discovery and replication cohorts, considering almost ten thousand individuals of European descent from several countries. Phenotyping of facial shape features was based on landmark data obtained from three-dimensional head magnetic resonance images (MRIs) and two-dimensional portrait images. We identified five independent genetic loci associated with different facial phenotypes, suggesting the involvement of five candidate genes—PRDM16, PAX3, TP63, C5orf50, and COL17A1—in the determination of the human face. Three of them have been implicated previously in vertebrate craniofacial development and disease, and the remaining two genes potentially represent novel players in the molecular networks governing facial development. Our finding at PAX3 influencing the position of the nasion replicates a recent GWAS of facial features. In addition to the reported GWA findings, we established links between common DNA variants previously associated with NSCL/P at 2p21, 8q24, 13q31, and 17q22 and normal facial-shape variations based on a candidate gene approach. Overall our study implies that DNA variants in genes essential for craniofacial development contribute with relatively small effect size to the spectrum of normal variation in human facial morphology. This observation has important consequences for future studies aiming to identify more genes involved in the human facial morphology, as well as for potential applications of DNA prediction of facial shape such as in future forensic applications.     

Optimal Geometrical Set for Automated Marker Placement to Virtualized Real-Time Facial Emotions

In recent years, real-time face recognition has been a major topic of interest in developing intelligent human-machine interaction systems. Over the past several decades, researchers have proposed different algorithms for facial expression recognition, but there has been little focus on detection in real-time scenarios. The present work proposes a new algorithmic method of automated marker placement used to classify six facial expressions: happiness, sadness, anger, fear, disgust, and surprise. Emotional facial expressions were captured using a webcam, while the proposed algorithm placed a set of eight virtual markers on each subject’s face. Facial feature extraction methods, including marker distance (distance between each marker to the center of the face) and change in marker distance (change in distance between the original and new marker positions), were used to extract three statistical features (mean, variance, and root mean square) from the real-time video sequence. The initial position of each marker was subjected to the optical flow algorithm for marker tracking with each emotional facial expression. Finally, the extracted statistical features were mapped into corresponding emotional facial expressions using two simple non-linear classifiers, K-nearest neighbor and probabilistic neural network. The results indicate that the proposed automated marker placement algorithm effectively placed eight virtual markers on each subject’s face and gave a maximum mean emotion classification rate of 96.94% using the probabilistic neural network.     

Morphological integration of soft-tissue facial morphology in Down Syndrome and siblings

Down syndrome (DS), resulting from trisomy of chromosome 21, is the most common live-born human aneuploidy. The phenotypic expression of trisomy 21 produces variable, though characteristic, facial morphology. Although certain facial features have been documented quantitatively and qualitatively as characteristic of DS (e.g., epicanthic folds, macroglossia, and hypertelorism), all of these traits occur in other craniofacial conditions with an underlying genetic cause. We hypothesize that the typical DS face is integrated differently than the face of non-DS siblings, and that the pattern of morphological integration unique to individuals with DS will yield information about underlying developmental associations between facial regions. We statistically compared morphological integration patterns of immature DS faces (N = 53) with those of non-DS siblings (N = 54), aged 6-12 years using 31 distances estimated from 3D coordinate data representing 17 anthropometric landmarks recorded on 3D digital photographic images. Facial features are affected differentially in DS, as evidenced by statistically significant differences in integration both within and between facial regions. Our results suggest a differential affect of trisomy on facial prominences during craniofacial development.     

A genome-wide association study of facial morphology identifies novel genetic loci in Han Chinese

The human face is a heritable surface with many complex sensory organs. In recent years, many genetic loci associated with facial features have been reported in different populations, yet there is a lack of studies on the Han Chinese population. Here, we report a genome-wide association study of 3 D normal human faces of 2,659 Han Chinese with autosegment phenotypes of facial morphology. We identify singlenucleotide polymorphisms(SNPs) encompassing four genomic regions showing significant associations with different facial regions, including SNPs in DENND1 B associated with the chin, SNPs among PISRT1 associated with eyes, SNPs between DCHS2 and SFRP2 associated with the nose, and SNPs in VPS13 B associated with the nose. We replicate 24 SNPs from previously reported genetic loci in different populations, whose candidate genes are DCHS2, SUPT3 H, HOXD1, SOX9, PAX3, and EDAR. These results provide a more comprehensive understanding of the genetic basis of variation in human facial morphology.