2017年10月调查了辽宁沈阳市郊锡伯族中学学生6项不对称行为特征(利眼、扣手、交叉臂、交叉腿、利足、起步类型).研究结果显示:(1)辽宁锡伯族男性的利眼、扣手、交叉臂、交叉腿L型率均略低于女性的L型率;男性的起步类型、利足L型率均略高于女性的L型率,但总体其6项不对称行为特征的出现率均无性别间差异(P>0.05).(2)辽宁锡伯族与国内其他15个少数民族其6项不对称行为特征出现率分别依次比较结果显示,有显著性差异(P<0.05)或极显著性差异(P<0.01).(3)辽宁锡伯族其6项不对称分布特征指标间的相关性分析显示,扣手与利眼、扣手与交叉臂、扣手与交叉腿、交叉臂与交叉腿、起步类型与交叉臂、起步类型与交叉腿、起步类型与利足均存在相关性(P<0.05或P<0.01).(4)辽宁锡伯族等16个族群间关系远近聚类分析提示,16个民族分成4组,辽宁锡伯族与鄂温克族最为接近.

目的:探讨辽宁锡伯族扣手不对称行为特征及基因频率.方法:采用人体测量方法,调查辽宁沈阳某中学15～18岁锡伯族学生234名(男生120名,女生114名)扣手不对称行为特征,比较男女扣手不对称行为特征出现率差异,扣手不对称行为特征与文献报道的其他14个民族群体的亲疏性关系分析,采用组间链接平方Euclidean距离法进行聚类分析.结果:扣手不对称行为特征中右型扣手为显性性状.辽宁锡伯族扣手不对称行为特征显性基因频率为0.2839,隐性基因频率为0.7161,右型扣手出现率(48.72％)低于左型扣手出现率(51.28％),但男女生扣手不对称行为特征的基因频率及基因型频率的观察值比较差异无统计学意义.辽宁锡伯族右型扣手出现率与贵州革家人、仫佬族、贵州彝族、云南摩梭人比较差异有统计学意义(P<0.05).聚类分析结果显示,与国内14个民族群体相比,辽宁锡伯族右型扣手不对称行为特征与羌族最为接近.结论:辽宁锡伯族扣手不对称行为特征右型出现率及基因频率均处于较低水平.

目的:研究辽宁锡伯族人群卷舌、叠舌、翻舌、尖舌、三叶舌5项舌运动类型特点,探讨锡伯族人群与其他族群的亲缘关系,为研究锡伯族群体遗传学积累资料.方法:对辽宁沈阳新城子区234例(男为120例,女为114例)锡伯族学生5项舌运动类型进行研究.采用类间平均连锁法,对14个族群进行聚类分析,探讨族群间亲缘关系.结果:辽宁锡伯族卷舌、叠舌、翻舌、尖舌、三叶舌运动类型出现率分别为96.58％、32.05％、51.28％、73.08％、3.84％,5项舌运动类型出现率性别间无差异.卷舌分别与翻舌、叠舌和尖舌,翻舌分别与叠舌和三叶舌,叠舌分别与尖舌和三叶舌基因间存在基因相互的关系.舌运动类型与国内民族比较,卷舌、翻舌、叠舌、尖舌构成比处于较高水平,三叶舌构成比处于较低水平.聚类分析结果表明,辽宁锡伯族的舌运动类型出现率与锦州汉族最为接近.结论:辽宁锡伯族5项舌运动类型与国内族群舌运动相比,卷舌、翻舌、叠舌运动、尖舌类型运动能力较强,三叶舌类型运动能力比较弱,辽宁锡伯族与锦州汉族亲缘关系最近.

Objective:The aim of study was to obtain the data of the allele frequency for darwinian point in Xibe and Han of Liaoning.Methods:We used the methods from "Measurement method of human body" and "anthropometric Handbook" written by Rukang Wu or Xiangqing Shao.We investigated the characteristic of darwinian point from Xibe and Han students (11-17 years old) who lived in Huang Village,New District of Shenbei,Shenyang,Liaoning.We got the data of the allele frequency for darwinian point in the two populations.Results:The allele frequency of darwinian point was 0.3698 for dominant and 0.6302 for recessive in Liaoning Xibe.The allele frequency of darwinian point was 0.2174 for dominant and 0.7826 for recessive in Liaoning Han.Conclusion:The distribution of the allele frequency for darwinian point between men and women had no significant difference in Liaoning Xibe or Liaoning Han (both P＞0.05).The distribution of the allele frequency for darwinian point had significant difference between Xibe and Han in Liaoning (P＜0.01).The allele frequency for darwinian point is in the middle level for Liaoning Xibe population compared to that of other ethnic groups of China.

Objective:To investigate the gene frequency of nasal tip shape in Xibo and Han nationalities of Liaoning province.Methods:According to the visual methods and standards in "Measure Methods of Human Body" written by WuRu-kang and "Handbook of Human Body Measurement " written by ShaoXiang-qing.We got Xibo nationalities and Han nationalities nasal tip shape.Results:The dominant gene frequency of nasal tip shape was 0.0617,the recessive gene frequency of nasal tip shape was 0.9383 in Liaoning Xibo nationality.The dominant gene frequency of nasal tip shape was 0.1008,the recessive gene frequency of nasal tip shape was 0.8992 in Liaoning Han nationality.Conclusion:There were significant differences in gene frequencies of nasal tip shape between Xibo and Han nationalities with no obvious difference between male and female.

目的对印度留学生表型耳垂的出现率和基因频率进行调查分析,为人类群体遗传学研究提供资料。方法表型有耳垂为常染色体显性遗传(AD),表型无耳垂为常染色体隐性遗传(AR)。并记录观察结果。结果印度留学生无耳垂表型频率为13.89%,该性状显性基因频率和隐性基因频率分别为0.6273和0.3727。结论印度民族无耳垂的表型频率在性别间无显著差异;与中国汉民族及其他少数民族群体相比较,印度民族无耳垂表型频率处于较低水平。

The aim of this study was to estimate the allelic frequencies of the 19 STR loci with the Goldeneye™ DNA ID system 20A kit in a sample of 150 Manchu individuals from China to be used for forensic purposes and population studies. The observed heterozygosity(HO)values of these 19 STR loci ranged from 0.600 (D3S1358) to 0.914 (D18S51), the expected (HE) ranged from 0.615 (TPOX) to 0.876 (D16S1043). The power of discrimination (PD) values were found to range from 0.793 (TPOX) to 0.950 (D16S1043) and the probability of exclusion (PE) varies between 0.291 (D3S1358) and 0.825 (D18S51 and Penta E). Among all the 19 loci, D16S1043 had the highest polymorphism (PIC=0.860), whereas TPOX had the lowest (PIC=0.550). For the 19 loci, the combined power of discrimination and the combined probability of exclusion are 0.9999999999999999999942 and 0.999999996777, respectively. The phylogenetic tree established among worldwide population shows different populations who say the same language usually have a close genetic relationship with each other across the three language families studied (Sino-Tibetan, Altaic and Arabic).

目的 对印度留学生前额发际的出现率和基因频率进行调查分析,为人类群体遗传学研究提供资料.方法 前额发际突出三角尖(寡妇尖)为常染色体显性遗传(AD),前额发际平齐为常染色体隐性遗传(AR).并记录观察结果.结果 印度留学生前额发际三角尖表型频率为43.98％,该性状显性基因频率和隐性基因频率分别为0.2515和0.7485.结论 印度民族前额发际的表型频率在性别间无显著差异；与中国汉民族及其他少数民族群体相比较,印度民族前额发际表型频率处于中等水平.

Objective To study the gene frequency of handedness in Xibo and Han nationalities of Liaoning province to provide data for genetic of human Anthropology.Methods We judge the left-handed or right handed people by mutiple observations(writing,throwing,using scissors).Results The dominant gene frequency of handedness was 0.8517, the recessive gene frequency of handedness was 0.1483 in Liaoning Xibo nationality.The dominant gene frequency was 0.7895 and the recessive gene frequency was 0.2105 in Han nationality.Conclusion There were significant diffrences in gene frequencies of handedness between Han and Xibo nationalities with no obvious differece between male and female.

DNA repair genes are increasingly studied because of their critical role in maintaining genome integrity. The base excision repair (BER) pathway is a DNA repair pathway that operates on small lesions, such as oxidized or reduced bases, fragmented or nonbulky adducts, or those produced by methylating agents. The XRCC1 polymorphic system is the key gene of the BER pathway. In this study, polymorphisms of XRCC1 Pro206Pro on exon 7 and Gln632Gln on exon 17 were analyzed in a northeastern Chinese Han population. Genomic DNA extracted from 303 unrelated individuals and the PCR-RFLP technique were used to identify variants. The allele frequencies were 0.90 (A) and 0.10 (G) for XRCC1 Pro206Pro and 0.88 (G) and 0.12 (A) for XRCC1 Gln632Gln. The genotype frequencies were 0.797 (AA), 0.203 (AG), and 0 (GG) for XRCC1 Pro206Pro and 0.007 (AA), 0.222 (AG), and 0.771 (GG) for XRCC1 Gln632Gln. The expected heterozygosity and PIC were 18 and 16.38% for Pro206Pro and 21.12 and 18.89% for Gln632Gln. The two polymorphisms were in strong linkage disequilibrium (D' = 0.921, r (2) = 0.735). The results are compared with those of other reported populations. They showed marked ethnic group differences. This study provides the first analysis of the distribution of allele frequency for XRCC1 Pro206Pro and Gln632Gln in a Chinese population.

The effect of the polymorphism of the DNA repair gene ERCC2/XPD Asp312Asn on the risk of lung cancer was investigated in a northeastern Chinese population. A hospital-based case-control study consisted of 201 lung cancer cases and 171 cancer-free controls matched to age, sex, and ethnicity. A polymerase chain reaction-restriction fragment length polymorphism method was used for genotyping. Frequency of the variant C-allele of ERCC2 Asp312Asn was 0.006 among the controls in present study, which differs markedly from previous reports both in European ancestry populations and in other Chinese populations (all P < 0.001). The polymorphism was not associated with risk of lung cancer. Haplotype analysis including three previously studied polymorphisms (ERCC1 Asn118Asn, ERCC2 Arg156Arg, and ERCC2 Lys751Gln) revealed that a haplotype consisting of ERCC1Asn118Asn(G)-ERCC2 Arg156Arg(C)-ERCC2 Asp312Asn(G)-ERCC2 Lys751Gln(C) was marginally associated with an increased risk of lung cancer (OR = 3.61, 95% CI = 1.00-13.06, P = 0.04). Our data suggest that the polymorphism ERCC2 Lys751Gln or a haplotype encompassing the variant allele is associated with risk of lung cancer in this population. Studies including larger sample sizes are needed to elucidate the effects of these polymorphisms on lung cancer risk in this northeastern Chinese population.

To evaluate the effect of DNA repair gene XRCC1 polymorphisms on the risk of lung cancer in a northeastern Chinese population, we studied five cSNPs in the XRCC1 gene, three that lead to non-synonymous changes: Arg194Trp, Arg280 His and Arg399Gln and two that lead to synonymous changes: Pro206Pro and Gln632Gln. A hospital-based case–control study consisted of 247 lung cancer cases and 253 cancer-free controls matched on age, gender and ethnicity. PCR-RFLP was used for genotyping. Carriers of the minor G-allele of Pro206Pro were at significantly increased risk of lung cancer (adjusted OR=1.96, 95% CI=1.26–3.06, P=0.003). Stratified analyses revealed a significantly decreased risk of lung cancer associated with the AG/AA genotype of Arg280His (AG+AA versus GG, OR=0.38, 95% CI=0.19–0.75, P=0.005) among never smokers, although there was no interaction between Arg280His and smoking. In a haplotype analysis, a haplotype defined by Arg194TrpC–Pro206ProG–Arg280HisG–Arg399GlnG–Gln632GlnG was associated with increased risk of lung cancer (OR=28.60, 95% CI=2.49–331.31, P=4.45×10−5). No associations were observed for the other polymorphisms or haplotypes. Our results suggest that the XRCC1 Pro206Pro polymorphism or the haplotype encompassing the minor allele may contribute to genetic susceptibility for lung cancer in this northeastern Chinese population. To our knowledge, this is first report that XRCC1 Pro206Pro influences cancer risk.

Objective: DNA repair plays important roles in maintaining genomic integrity and prevention of carcinogenesis. Base excision repair (BER) is one type of DNA repair that operates on small lesions. XRCC1 (X-ray repair cross complementing group 1) protein is an important component of BER. The aim of this study was to evaluate the association between the Pro206Pro and Gln632Gln polymorphisms of DNA repair gene XRCC1 and the prevalence of lung cancer in the Chinese population. Methods: A hospital-based case control study was designed that consisted of 247 cases of lung cancer and 253 cancer-free control subjects matched in age (±3 years), gender and ethnicity. All subjects were ethnic Han Chinese and were unrelated. PCR-RFLP was used for genotyping. Results: Carriers of the variant G-allele of Pro206Pro were at significantly increased risk of developing lung cancer (adjusted OR=1.96, 95% CI= 1.26-3.06, P=0.003, adjusted for smoking duration). No significant factors were associated with the Gln632Gln XRCC1 polymorphism. Interactions between genotype and smoking history were not seen in stratified analysis. The two SNPs were in strong linkage disequilibrium (D′=0.807, P=3.1e-115). Haplotype distributions were significantly different between lung cancer cases and the controls (P=2.25e- 06). A haplotype of Pro206Pro(A)-Gln632Gln(G) was associated with decreased risk of lung cancer(OR=0.66, 9 5% CI=0.45-0.96, P=0.03) and a haplotype of Pro206Pro(G)-Gln632Gln(G) was associated with significantly increased risk of lung cancer (OR=16.09, 95% CI=3.89-66.53, P=3.09e-07). This finding indicates that the interaction between these genes is closely related to disease susceptibility. Conclusion: Polymorphisms in the DNA repair gene XRCC1 may play an important role in the occurrence of lung cancer in the Chinese population.

调查了沈阳市市郊两个群体锡伯族及汉族的拇指外翻特征,对拇指外翻基因频率的分布进行了分析。结果表明:辽宁锡伯族拇指外翻显性基因频率A=0.4791、隐性基因频率a=0.5209。辽宁汉族拇指外翻显性基因频率A=0.8482、隐性基因频率a=0.5158。辽宁锡伯族男、女群体隐性基因频率在群体中的分布无显著差异(u=1.275、P>0.05)。辽宁汉族男、女群体隐性基因频率在群体中的分布无显著差异(u=0.7 045、P>0.05)。辽宁汉族男、女群体之间无显著差异(u=0.162、P>0.05)。

Objective To study the distribution of gene frequency of two kinds of genetic traits including eyelash and Mongolia wrinkle(inner canthus wrinkle) in Xibo and Han nationalities of Liaoning to provide data for genetic of human Anthropology.Methods To observe the length of eyelash and the existence of Monglia wrinkle.The eyelash longer than 8 ㎜ belongs to autosomal dominant inheritance,eyelash shorter than 5㎜ belongs to autosomal recessive inheritance.Mongolia wrinkle(down from the up eyelid's internal angle) belongs to autosomal dominant inheritance,non Mongolia wrinkle belongs to autosomal recessive inheritance.Results The frequencies of short eyelash in Liaoning Xibo and Han nationalities were 32.76% and 19.70% respectively,the gene frequencies of autosomal recessive inheritance were 0.5724and 0.4439 respectively.The frequencies of non Mongolia wrinkle were 15.41% and 5.42%,the frequencies of autosomal recessive inheritance were 0.3925 and 0.2328 respectively.Conclusion No significant sexual difference was found in the frequencies of two genetic traits between the two nationalities compared with Liaoning Han nationalities,Liaoning Xibo nationality has a higher frequency of short eyelash and no Mongolia wrinkle.Compared with other populations,Liaoning Xibo nationality has a middle frequency for short eyelash and a higher frequency for non Mongolia wrinkle.

近期新版<医学遗传学>教科书,均加入了人类基因组学的教学内容.本文仅就全国高等医药教材建设研究会规划教材:人民卫生出版社:7年制规划教材陈竺主编<医学遗传学>第十四章人类基因组学的教学初探,谈一点体会.

ObjectiveIn order to detect the common pathogenic bacteria quickly and accurately, a rapid experimental procedure based upon PCR technology has been set up. MethodsThe first step is the DNA isolation. The DNA was isolated from bacteria by the lysozyme-sodium dodelylsulfate(SDS)-proteinase K-phenol-chloroform method. The second step is the universal 16SrDNA amplification. ResultsAll of the DNAs from 10 kinds of species were amplified well and PCR product which is 308bp was fluorescently labeled by random primer with Cy5-dUTP. obtained. ConclusionPCR technology is an extremely powerful detection system. It can detect the common pathogenic bacteria quickly and accurately. The overall time for sample process lasts about 3 hours. We have demonstrated the sensitivity of detection with PCR technology with as low as 1pg of purified genomic DNA.

Objective To study two kinds of tongue moving types including rolling and folding tongues in Xibo and Han nationalities of Liaoning to provide data for genetic of human Anthropology. Methods Firstly the two kinds of tongue moving types were demonstrated for the investigated and they were told to practise before the investigation.Results The freqencies of rolling tongue in Liaoning Xibo and Han nationalities were 71.88% and 66.01%, the freqencies of folding tongue were 13.94% and 3.2% respectively.Conclusion No significant sexual difference was found in the frequencies of two tongue moving types in the two nationalities, Liaoning Xibo nationality has a higher frequency of folding tongue compared with other populations.

BACKGROUND AIM: To study a method which can get ideal products of in the sample of low yield DNA for mutation analysis. MATERIAL AND METHODS: The nested polymerase chain reaction(NPCR) -restriction fragment length polymorphisms (RFLP) technique was used for mutation test of single nucleotide polymorphism of DNA repair gene: ERCC2/XPD exon 6 in some samples of low yield DNA.RESULTS: Genotyping results of population were in agreement with the expectations of Hardy-Weinberg Equilibrium. CONCLUSION: The sophisticated newnested PCR systems are significantly more sensitive and specific than other currently availble technologies.

本文调查了辽宁锡伯族及汉族群体的前额发际出现率和基因频率分布,同时也进行了各民族间出现率及基因频率的比较.研究结果表明:辽宁锡伯族前额发际平齐出现率71.88%、隐性基因频率0.8478;汉族前额发际平齐出现率74.88%、隐性基因频率0.8653.两民族前额发际平齐出现率及基因频率性别间无显著差异.与国内其他民族的相比,辽宁锡伯族及汉族群体前额发际平齐出现率及基因频率均处于较高水平.