| Objective In order to investigate genetic affinity between Manchu people and other East Asian populations and explore the origin,development and admixture history of Manchu population,this study analysed physical phenotype characteristics and genetic structure of Manchu people in Liaoning province.Methods This study with informed consent used the anthropometric and obesevred methods to investigate randomly the physcial phenotype characteristics(head,face and body)of 498 Manchu adults(199 males and 299 females)whose parents and grandparents are indigenous people and have a nonconsanguineous marriage of the same ethnical group for at least three generations in Xinbin Manchu Autonomous County,Fushun City,Liaoning Province.According to the "Anthropometric Methods",this study investigated 20 cephalo-facial anthropometric indices(head length,head breath,head height,auricular height,minimum frontal breadth,bitragion breadth,bimastoidal breadth,face breadth,bigonial breadth,interocular breadth,external biocular breadth,nose breadth,nasal height,nasal length,lip height,mouth breadth,physiognomic facial height,morphological facial height,physiognomic ear length,physiognomic ear breadth),17 cephalo-facial observed indices(eyefold of upper eyelid,mongoloid fold,opening height of eyelists,direction of eyelists,nasal root height,nasal profile,nasal base direction,nasal breadth,nostril maximum diameter position,upper lip profile,upper lip height,thickness of lips,earlobe,facial horizontal plane,zygomatic projection,chin,beauty ditch)and 35 physical anthropometric indices(stature,weight,tragion height,gnathion height,suprasternal height,acromion height,radiale height,radiale stylion height,middle finger tip height,sitting height,iliospinale anterior height,tibial height,height of foot,shoulder breadth,crista iliaca breadth,hand breadth,foot breadth,biepicondylar breadth of humerus,biepicondylar breadth of femur,head circumference,chest circumference,waist circumference,hip circumference,biceps circumference,maximum biceps circumference,maximum forearm circumference,thigh circumference,calf circumference,upper extremity length,lower extremity length,foot length,subscapular skinfold,suprailiac skinfold,medical calf skinfold,triceps skinfold),and calculated 32 cephalo-facial and physcial indices and Heath-Carter somatotype related indices(cephalic index,length-height index of head,breadth-height index of head,transverse frontoparietal index,transverse cephalon-facial index,morphological facial index,physiognomic facial index,zygomatic mandibular index,zygomatic frontal index,vertical cephalo-facial index,nasal index,lip index,physiognomic index of ear,body mass index,intermembral index Ⅰ,arm girth index,leg girth index,Manouvriers skelic index,habitus index,low extremity-sitting height length index,stature-chest circumference index,stature-shoulder breadth index,stature-crista iliaca index,stature-sitting height index,acromio-cristal index,stature-weight index,Vervaecks index,endomorphy,mesomorphy,ectomorphy,Ponder index,somatotype attitudinal mean).This study used statistical methods such as T-test,U-test,analysis of variance,cluster analysis to investigate differences of anthropometric values between gender,age and ethnic groups.At the same time,98 unrelated Manchu participants(38 males and 55 females)who have no affinity within 3 generations were selected randomly.5ml of peripheral venous blood was collected,and genomic DNA was extracted by genome extraction kit.By using Illumina sequencing method,this study used Infinium Global Screening Array(GSA)gene chip for sequencing and genotyping.The raw data in this study was merged with the public datasets(Human Origin,1240K),and applied PCA,ADMIXTURE,FST,f3,f4,qp Wave,qp Adm,qp Graph,Treemix,Fine IBD,fine STRUCTURE and other analytical methods to investigate the genetic structure and affinity between Manchu people and other Eurasian populations and explore the origin,migration and admixture history of the Manchu population.Results 1.The main physical phenotype characteristics of Manchu people in Liaoning:(1)Cephalo-facial phenotype characteristics: Manchu people were mainly hyperbrachycephaly(male 48.7%,female 55.9%),hypsicephalic head(male 96.5%,female 93.3%),acrocephalic head(male 58.8%,female 45.5%),hyperleptoprosopy(male 61.3%,female 84.9%),leptorrhiny(male 64.3%,female 59.2%),medium opening height of eyeslits(male 83.4%,female 72.6%),horizontal direction of eyeslits(male 66.8%,female 50.2%),straight nasal profile(male 61.3%,female 76.6%),horizontal nose base(male 84.9%,female 82.3%),broad nosal wide(male 77.9%,female 83.3 %),oblique nasal aperture(male 95.5%,female 94.3%),middle nasal root height(male 70.4%,female 59.5%),medium upper lip height(male 72.4%,female 69.9%),thin lips(male 52.3%,female 48.8%),frontal upper lip profile(male 46.2%,female 43.1%),round earlobe(male 46.7%,female 54.2%),middle zygomatic projection(male 66.8%,female 50.2%),no beauty ditch(male 74.4%,female 59.5%),and straight chin(male 68.8%,female 83.6%).(2)Physical phenotype characteristics: Men were mainly subbrachyskelic leg(30.2%),wide shoulder(41.2%),narrow pelvis(57.3%)and long trunk(58.8%).Women mainly were hyperbrachyskelic leg(51.8%),mid-shoulder(38.1%),narrow pelvis(46.8%)and long trunk(female 57.2%).(3)The features of Heath-Carter somatotype: endomorphy,mesomorphy and ectomorphy were 4.02,4.36 and 2.26 in men,respectively.It belonged to the endomorph-mesomorph type.Endomorphy,mesomorphy and ectomorphy were 5.57,4.09 and 1.78 in women,respectively,which were mesomorphic endomorph type.The results of cluster analysis showed that the Liaoning Manchu people had similar phenotypic characteristics with Han Chinese in head,face,body and Heath-carter somatotype,but Manchus were unsimilar with other Tungusic-speaking populations in physical phenotype characteristics relative to Han Chinese.2.Genetic profile of Manchu people:(1)The results of PCA,FST,ADMIXTURE,Outgroup-f3,Treemix,Fine IBD,fine STRUCTURE exhibited that Liaoning Manchu people had genetic similarity with Han Chinese,and Manchus shared more alleles,IBD fragments,haplotype chunks and common haplogroups of Y chromosome and mitochondria with Han people relative to other East Asian populations.And Manchu population in Liaoning have closed genetic affinity with adjoined population geographically such as Mongolian,Xibe,Korean and Japanese.(2)The results of admixture-f3,f4,qp Wave and qp Adm showed that there were gene flows of ancient populations from Yellow River Basin,West Liao River Basin,Southern China and Amur River Basin during Neolithic period and Iron Age in Manchu gene pool.Modern Manchu people were the mixture of northern populations(Mohe,Xianbei)and southern populations(Hanben,SEast Asian_Costal),and the portion of northern ancestral component was 61.5%-93.9%.Liaoning Manchu people shared more alleles with millet farmers from Yellow River Baisn and medieval Mohe people,the ancestral component of Yellow River Basin farmer was 67.6% and the ancestral component of Mohe people was 33.4%.And qp Graph results showed that the ancestral component of Yellow River Basin farmer and Mohe population was 56.0%-83.0%,and 17.0%-44.0% ancestral component was from ancient populations in West Liao River Basin and Southern China.Conclusions 1.The physical phenotype characteristics of Manchu people was typical East Asian type of Mongolian group,and the genetic profile of Manchu population also showed East Asian characteristics.2.Manchu people in Liaoning have similar cephalo-facial phenotypes,physical phenotypes and somatotype with Han people.Manchu population showed genetic similarity with Han Chinese and shared more alleles and haplotype chunks.It revealed large-scale population admixture between Han Chinese and Manchu people,and Manchus became an exception to the consistency of the physical phenotype characteristics and genetic structure of the Tungusic-speaking populations.3.There were genetic contributions of hunter-gatherers from Amur River Basin and millet farmers from Yellow River Basin and West Liao River Basin in modern Manchu people gene pool,and Mohe people maybe the direct ancestor of Manchu population,it revealed Manchu population originated from Amur River Basin in northern East Asia,and Manchus had gene flow which was associated with expansion of agricultural populations. |