汉族和回族儿童甘露糖结合凝集素基因多态性分析

目的 分析浙江省汉族和宁夏回族自治区回族儿童甘露糖结合凝集素(MBL)基因外显子1区 223、 230和 239位点、5'端非翻译区 4位点和启动子区-221位点的单核苷酸多态性,并分析其单体基因型.方法 研究对象为参加体检的105例汉族和69例回族儿童.体检时抽取静脉血1.5ml,以EDTA抗凝.MBL基因多态性分析采用序列分析法,遗传学分析采用SHEsis软件.结果 汉族和回族儿童MBL基因启动子区-221位点的变异频率分别为0.095和0.123,两组人群该位点的变异频率无显著性差异(x2=0.684,P=0.408);所有个体外显子1区 223和 239位点均无突变发现;汉族儿童外显子1区 230位点( 54密码子)的变异频率为0.167,低于回族儿童(0.268,x2=5.223,P=0.022);基因单倍型以YA最为多见,回族儿童中其频率(0.669)低于汉族儿童(0.770,x2=4.312,P=0.038).结论 汉族、回族儿童MBL基因-221位点的变异频率无明显差异,回族儿童 230位点的变异频率高于汉族儿童,两组人群最常见基因单倍型为YA,但在汉族人群YA频率高于回族人群.     

XRCCl基因多态性与青海世居汉族乳腺癌关系的研究

目的：研究青海世居汉族人群乳腺癌易感性与x射线损伤修复交叉互补基因1（XRCC1）C26304T位点基因多态性的相关关系。方法：应用聚合酶链反应一限制性片段多态性（PCR—RFLPs）方法检测青海世居汉族人群30例乳腺癌患者（乳腺癌组）及30例乳腺良性病变患者（对照组）XRCClC26304T基因多态性分布情况。同时运用统计学方法对XRCClC26304T的基因型和基因频率进行分析。结果：XRCC1C26304T基因CC、CT、TT基因型在对照组中分别是56．7％、33．3％、10％,而在乳腺癌组中分别是50．0％、36．7％、13．3％。TT基因型在对照组及乳腺癌组中,相对于CT、CC基因组表达较低,但是对照组和乳腺癌组间并没有明显差异（P〉0．05）。经过分析,c、T基因频率在对照组中是0．733、0．267,而在乳腺癌组中是0．683、0．317,两组比较,c、T基因频率也无明显差异（P〉0．05）。结论：XRCClC26304T基因多态性可能与青海世居汉族人群乳腺癌易感性无关。     

不同年龄组人群IFABP基因外显子54A/T频率分布的研究

目的：通过分析不同年龄组人群肠脂肪酸结合蛋白（intestinal fatty acid binding protein，IFABP）基因外显子（exon）Ⅱ54位点编码丙氨酸或苏氨酸（A／T）单核苷酸多态性（single nucleotide polymorphisms，SNP）频率分布，探讨年龄变化与54A／T IFABP基因频率分布的关系。方法：将研究对象按年龄随机分为3组：14-30岁年龄组（I组，n=30），35～55岁年龄组（Ⅱ组，n=32），60～85岁年龄组（Ⅲ组，n=34）。利用聚合酶链反应（PCR）、Hha Ⅰ内切酶酶切和基因测序等技术检测各组研究对象的IFABP基因型。结果：各年龄组54A／T IFABP基因型频率分布为，Ⅰ组：A／A 60％，A／T 36．7％，T／T 3．3％；Ⅱ组：A／A 53．1％，A／T 37．5％，T／T 9．4％；Ⅲ组：A／A 29．4％，A／T 44．1％，T／T 26．5％。突变型54T基因频率分别为：22．2％（Ⅰ组），28．2％（Ⅱ组），48．5％（Ⅲ组）。与Ⅲ组比较，Ⅰ组和Ⅱ组54T型基因分布频率差别有统计学意义（分别为X^2=10．51，P＜0．01；X^2=6．19，P＜0．05）。结论：在不同年龄组，人娄IFABP基因外显子Ⅱ54A／T多态性分布存在较大差别，突变型54T随年龄的增长，出现频率升高。     

ACE基因插入/缺失及β2肾上腺素受体基因多态性与房颤的相关性研究

目的：研究血管紧张素转换酶基因插入／缺失（ACEI／D）多态性及隧肾上腺素受体基因（β2-AR＋46A—G）多态性与心房颤动的相关性，寻找房颤发病的分子机制。方法：选择55例房颤患者（房颤组）及63例非房颤者（对照组），用PCR的方法检测两组ACE基因插入／缺失多态性，用RFLP法检测隧-AR＋46A→G变异。结果：房颤组与对照组ACEI／D多态性缺失纯合型（DD型）、杂合子（DI型）、插入纯合型（Ⅱ）基因型频率分别为32．76％、41．8％、25．5％和19．0％、44．4％、36．5％；房颤组与对照组β2-AR＋46A→G多态性Gly16纯合型、Arg16纯合型、Gly16／Arg16基因型频率分别是12．7％、17．47％、61．8％和14．3％、25．3％、60．3％；房颤组与对照组D等位基因、I等位基因分布频率为53．6％、46．4％和41．2％、58．7％；房颤组与对照组Gly16等位基因、Arg16等位基因分布频率为39．6％、60．4％和38．9％、61．1％；其中D等位基因分布频率在房颤组中较对照组明显增大；在9种不同基因型联合中发现，Gly／Arg型＋DD型和Gly型＋DD型的两种联合在房颤组和对照组间的分布有明显差异（P〈0．05），且这两种联合基因型发病相对危险度（OR）=2．455（95％CI：1．080～5．579）。结论：D等位基因可能是房颤的易患因素；ACEDD基因型与心肌纤维化及心脏重构的关系较为紧密，β2-AR基因＋46A→G多态性、ID基因型和Ⅱ基因型与心肌纤维化及心脏重构无明显相关性；β2-ARGly16等位基因与ACEDD基因型的联合可能对房颤的患病有着潜在的影响。     

重性抑郁障碍患者与肿瘤坏死因子ɑ基因启动子区多态性的相关性研究

目的：探讨肿瘤坏死因子α（tumor necrosis factor,TNF－α）基因启动子区－308G／A、－857C／T位点多态性与重性抑郁障碍症发生的相关性。方法采用聚合酶链限制性片段长度多态性（ PCR－RFLP）分析方法检测393例重性抑郁障碍症患者和393名健康对照各个多态性位点的基因型,采用SPSS 13.0进行统计学分析。结果 TNF－α基因启动子－857 C／T位点的等位基因和基因型频率分布在正常对照组与重性抑郁障碍症组间存在统计学意义（ P＜0.05）。其中,男性重性抑郁障碍症组与对照组在－857 T的等位基因频率上存在显著差异（ OR＝0.31,95％CI：0.22－0.44,P＜0.01）,而女性病例组与对照组在－308 A位点的等位基因频率存在显著性差异（ OR＝0.40,95％CI：0.25－0.65,P＜0.01）。结论研究证实TNF－α基因启动子区多态性可能是中国北方汉族重性抑郁障碍患者的风险因素。 TNF－α基因启动子区多态性可能与重性抑郁障碍的发病存在关联。     

冠心病行为特征与血管紧张素转换酶基因多态性关联的研究

对１０９例冠心病患者同时进行Ａ型行为测试及血管紧张素转换酶（ＡＣＥ）基因Ｉ／Ｄ多态性的检测，结果表明：在冠心病组具有Ａ型行为人群中，ＡＣＥ基因ＤＤ多态表型及Ｄ等位基因频率的分布分别为５３％和７４％，与健康对照组中Ａ型行为人群相比（２１％，５３％）差异具有显著性意义（Ｐ〈０．００１）；在冠心病组具有Ｂ型行为人群中，ＡＣＥ基因ＤＤ多态表型及Ｄ等位基因频率的分布分别为７％和３４％，与健康对照组中Ｂ型行为     

高性能战斗机飞行员的PERIOD3基因多态性频率及与睡眠的关系

目的鉴定高性能战斗机飞行员的PERIOD3（PER3）基因型频率,并分析其与睡眠分型的关系。方法获取104名高性能战斗机飞行员的外周静脉血样本各2m1,提取基因组DNA样本。应用PCR扩增基因片段,鉴定个体的PER3基因型。根据Horne-Ostberg生理时钟问卷调查,进行睡眠类型分类。结果104名高性能战斗机飞行员的PER3基因型频率为：PER3^4/4基因型频率占70．2％（73／104）;PER3^4/5基因型频率占26．9％（28／104）;PER3^5/5频率占2．9％（3／104）。高性能战斗机飞行员与普通汉族人PER3基因型频率比较,差异无统计学意义（X^2=2．737,P〉0．05）。Horne-C）stberg生理时钟问卷调查结果显示：高性能战斗机飞行员PE船的3种基因型在睡眠分型上没有差别。结论高性能战斗机飞行员与普通汉族人PER3基因型频率分布相似。飞行员睡眠分型中,未提示PER3^5与昼行睡眠偏好相关。     

西藏藏族mtDNA COⅡ/tRNALys 基因间区9-bp缺失多态性

目的通过对西藏拉萨和那曲两地区藏族群体线粒体DNA　COⅡ／tRNA^Lys基因间（V区）的研究，了解V区9-bp短串联重复序列的多态性。方法应用PCR法扩增163例（拉萨82例，那曲81例）藏族青少年标本后琼脂糖凝胶电泳进行检测，并对突变样本测序分析。结果共有9例缺失型（占5．52％），其中拉萨藏族中有4例（4．88％），那曲藏族中有5例（6．17％），其余为标准型，未发现3型和长型多态。结论研究结果表明西藏两地区藏族人群中只存在mtDNA V区的标准型和缺失型两种多态性，而且其缺失率经两样本率的X^2检验证明差别不大。     

Toll样受体4基因3''未翻译区多态性对其蛋白表达的影响

目的探讨TLR4基因3’未翻译区（3’UTR）基因多态性对全血培养后TLR4蛋白表达的影响。方法分别采用单管双向等位基因特异性扩增和限制性片段长度多态法检测269名汉族健康献血者Toll样受体4（TLR4）基因3’UTR 11367和编码区896位点的基因多态性。其中89例全血标本，用全血培养模型检测内毒素刺激前后TLR4蛋白表达的变化，并测定培养上清中肿瘤坏死因子（TNF）-α水平。结果89例健康献血者中，11367位点等位基因G和C的频率分别为82．58％和17．42％；63例是G等位基因纯合子（GG），21例为杂合子（GC），5例是C等位基因纯合子（CC）。基因型GC与CC内毒素刺激后TLR4表达增加程度显著低于GG纯合子表达增加程度（P〈0．05）。并且GG纯合子TNF—α诱生水平显著高于GC和CC基因型。在269例健康献血者中未发现896位点的G等位基因。结论TLR4基因3’UTR 11367G／C基因多态性对全血培养TLR4蛋白表达产生显著影响，并与LPS刺激后TNF—α分泌变化有关。     

血管紧张素转换酶基因多态性与房颤心肌纤维化的相关性研究

目的：研究血管紧张素转换酶基因（ACE）插入／缺失多态性与心肌纤维化及心房纤颤的相关性，以寻找心房纤颤发病的分子机制。方法：选择50例房颤患者（房颤组）及43例非房颤者（对照组），用PCR方法检测两组ACE基因插入／缺失多态性；用ELISA法测定心肌纤维化的指标（Ⅰ型前胶原羧基端肽、Ⅲ型前胶原氨基端肽）．比较不同基因型、不同等位基因的分布及Ⅰ型前胶原羧基端肽（PIP）和Ⅲ型前胶原氨基端肽（PⅢP）的血清浓度。结果：房颤组与对照组ACEI／D多态性缺失纯合型（DD型）、杂合子（DⅠ型）、插入纯合型（Ⅱ型）基因型频率分别为34％、40％、26％和18．6％、41．9％、39．5％；房颤组与对照组D等位基因、Ⅰ等位基因分布频率为54％、46％和39．5％、60．5％；对不同基因型分布比较发现：D等位基因分布频率在房颤组中较对照组明显增大（P〈0．05）；房颤组PIP、PⅢP浓度明显高于对照组（P〈0．05）；在不同基因型之间PIP、PⅢP浓度比较中发现，DD基因型PIP、PⅢP浓度显著高于DⅠ型和Ⅱ型（P〈0．05）。结论：D等位基因可能是房颤的易患基因；房颤患者心肌纤维化指标PIP、PⅢP显著升高；ACEDD基因型可能是心肌纤维化及心脏重构的危险因素。     

维吾尔族和汉族人群RANTES基因多态性特征及其对HIV-1感染的意义

目的　分析RANTES启动子区等位基因在中国维吾尔族和汉族健康人和HIV 1感染者中的分布特点 ,以期阐明RANTES基因突变型和人类免疫缺陷病毒(HIV 1 )感染在不同民族人群的关系。方法　利用PCR RFLP法对维吾尔族和汉族HIV 1感染者和健康人群的 86 5份样品的RANTES 4 0 3、 2 8等位基因进行检测。结果　两个位点在维吾尔族和汉族人群均有较高的等位基因频率 ,分布基本一致 ;RANTES等位基因具有 6个基因表型 ,分别为AC/AC、AC/AG、AC/GC、AG/GC、GC/GC和AG/AG ;从单倍型看 ,汉族和维吾尔族均以GC为最高 ,占 6 2 7% ,AC分别为 2 8 7%和 30 4 % ,AG分别为 8 6 %和 6 8%。但是从单个位点看 ,HIV感染者和健康人、吸毒者差异均无统计学意义(P >0 0 5 ) ;从基因表型分析 ,与AC/AC比较 ,AC/AG、AC/GC、AG/GC、GC/GC的OR值显示都有不同程度的关联(OR =0 33～0 81 )。结论　汉族和维吾尔族中RANTES启动子区 4 0 3/ 2 8均有较高的突变频率 ;与AC/AC比较 ,AC/AG、AC/GC、AG/GC、GC/GC的OR值显示都有不同程度的保护作用     

Haplotype diversity of 17 Y-STR loci in a Chinese Han population sample from Shanxi Province,Northern China

The distribution of 17 Y-chromosome STR loci DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y-GATA-H4, DYS437, DYS438, and DYS448 haplotypes was determined in a population sample of 222 unrelated Chinese Han from Shanxi Province, Northern China. A total of 219 haplotypes were observed, and of these, 216 were unique, while 3 were found two times. The overall haplotype diversity was 0.9999 and the discrimination capacity was 0.9865, indicating a high potential for differentiating between male individuals in this population. Comparison analysis via Analysis of Molecular Variance (AMOVA) and construction of MDS plot revealed that Shanxi Han sample clusters with Chinese origin populations and stands far apart of the non-Chinese populations, justifying the establishment of local databases in Shanxi Han population for any future forensic and genetic epidemiology efforts in this region.     

Haplotype diversity and phylogenetic relationship analysis of Chinese Yulin Han population using 59 Y-STR loci of two novel Y-STR typing systems

To investigate the genetic polymorphisms of 59 Y-chromosomal short tandem repeat (Y-STR) loci in the Yulin Han population, 229 unrelated healthy male individuals were analyzed using AGCU Y37 kit and AGCU Y-SUPP Plus kit. A total of 227 different haplotypes were obtained at the 59 Y-STR loci. Among them, 225 haplotypes were unique and 2 haplotypes occurred twice. The overall haplotypic diversity and discrimination capacity were 0.9999 and 0.9913, respectively. The phylogenetic relationships between the studied Yulin Han population and 17 previously reported reference populations were evaluated via multidimensional scaling and Neighbor-Joining analyses based on the haplotypic frequencies of ‘YHRD Maximal Loci’. Phylogenetic analysis revealed that Yulin Han population was closely related to Chinese Han and Hunan Yao populations. These results demonstrated that the 59 Y-STR loci were useful for forensic applications and population genetic studies.     

Analysis of 24 Y chromosomal STR haplotypes in a Chinese Han population sample from Henan Province,Central China

We analyzed haplotypes for 24 Y chromosomal STRs (Y-STRs), including 17 Yfiler loci (DYS19, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DY438, DYS439, DYS448, DYS456, DYS458, DYS635 and Y-GATA-H4) and 7 additional STRs (DYS388, DYS444, DYS447, DYS449, DYS522 and DYS527a/b) in 1100 unrelated Chinese Han individuals from Henan Province using AGCU Y24 STR kit systems. The calculated average gene diversity (GD) values ranged from 0.4105 to 0.9647 for the DYS388 and DYS385a/b loci, respectively. The discriminatory capacity (DC) was 72.91% with 802 observed haplotypes using 17 Yfiler loci, by the addition of 7 Y-STRs to the Yfiler system, the DC was increased to 79.09% while showing 870 observed haplotypes. Among the additional 7 Y-STRs, DYS449, DYS527a/b, DYS444 and DYS522 were major contributors to enhancing discrimination. In the analysis of molecular variance, the Henan Han population clustered with Han origin populations and showed significant differences from other Non-Han populations. In the present study, we report 24 Y-STR population data in Henan Han population, and we emphasize the need for adding additional markers to the commonly used 17 Yfiler loci to achieve more improved discriminatory capacity in a population with low genetic diversity.     

Genetic data obtained for two Chinese Han populations with a quadruplex fluorescent STR typing system (HUMVWA, HUMTH01, D21S11 and HPRT)

DNA typing of four tetrameric repeat loci (HUMVWA, HUMTH01, D21S11 and HPRT) was carried out in a Chinese Han population from Shanghai (East China) and one from Guangzhou (South-East China) using a quadruplex PCR amplification and detection of the fluorescent-labeled alleles on the ALF DNA sequencer. All loci were in accordance with Hardy-Weinberg equilibrium except for D21S11 in the Guangzhou population. A test for population differentiation showed no statistical difference in the allele frequency distribution between the two populations. Comparison of the allele frequency data with other Chinese Han populations from North and South-West China for the STR loci HUMVWA and HUMTH01 revealed heterogeneity between Northern Chinese Han and Southern Chinese Han, which is in accordance with previous studies on the basis of protein markers. Received: 22 December 1997 / Accepted: 23 April 1998     

Establishing historical sample data is essential for identification of unaccounted Australian soldiers from WWI,WWII, and the Korean War

ABSTRACT

Mitochondrial DNA (mtDNA) is used for identification of Australian military personnel whose remains are recovered from historical conflicts. A mtDNA sample database does not exist for Australian soldiers that served in World War I (WWI), World War II (WWII) and the Korean War, meaning it is unknown what common haplotypes may have existed among these soldiers, risking identification errors. Haplotype diversity (position 16,024 to 548) was examined in a sample of 254 unrelated WWII-era European-Australians. Of these, 220 different haplotypes were observed, and it is estimated that between 18% and 29% of Australian soldiers who served in historical conflicts have common haplotypes (95% CI). This research demonstrates that mtDNA control region analysis of historical military remains will provide a lower than expected power of discrimination given the population structure of the time, and enlistment policies targeting Australians of European decent. The point estimates for 52% of the common haplotypes obtained in the historical European-Australian sample were not represented in the confidence intervals for European and Western-European EMPOP data. Creation of targeted sample data reflecting correct ancestry of the WWI and II soldiers and additional mtDNA and Y-STR analysis are essential to avoid misidentification of Australian soldiers from historical conflicts.     

中国汉族人群SCN5A基因H558R、P1090L、4299+53T＞C及D1819D的多态性研究

目的了解中国汉族人群SCN5A基因单核苷酸多态性少见等位基因频率分布情况。方法在社区体检人群中选择126例作为研究对象,采用限制性片段长度多态性分析（RFLP）对SCN5A基因的H558R、P1090L、4299＋53T〉C及CA457T（D1819D）多态位点进行基因型鉴定,并随机选取样本采用ABI3700毛细血管电泳进行序列测定验证酶切结果。结果SCN5A H558R、P1090L、4299＋53T〉C及C5457T（D1819D）在中国汉族人群中的少见等位基因频率分别为11．1％、5．2％、28．2％及31．8％,与日本及国人先前的研究结果不尽相同。结论SCN5A基因的单核苷酸多态性存在种族差异。     

Haplotype analysis of the polymorphic 24 Y-STR markers in six ethnic populations from China

Twenty-four Y-STR loci were analysed in 1446 males from the following six Chinese ethnic populations: Guangxi Han (n=600), Gin (n=161), Maonan (n=135), Miao (n=186), Zhuang (n=226) and Yao (n=138) using the AGCU Y24 STR amplification kit. The lowest estimates of genetic diversity (below 0.5) correspond to markers DYS391 (0.4006), DYS438 (0.4300), and DS388 (0.4907), and the greatest diversity corresponds to markers DYS385a/b (0.9636) and DYS527a/b (0.9439). Moreover, there were 1331 different haplotypes identified from the 1446 total samples, of which 1233 were unique. Notably, we observed shared haplotypes between the four ethnic populations (Maonan, Miao, Zhuang, Yao ethnic population), except between the Guangxi Han and Gin population. The estimated overall haplotype diversity (HD) was 0.9997. A multidimensional scaling (MDS) plot based on the genetic distances between populations demonstrates the genetic similarity of the Maonan, Miao and Zhuang populations with genetic distance below 3.0. No substructure correction is required to estimate the rarity of a haplotype comprising 24 markers. In summary, the results of our study indicate that the 24 Y-STRs have a high level of polymorphism in these six Chinese ethnic populations and could therefore be a powerful tool for forensic applications and population genetic studies.     

Haplotype frequencies of nine Y-chromosome STR loci in the Taiwanese Han population

Haplotype frequencies of nine Y-chromosome STR loci (DYS19, DYS385, DYS388, DYS389I, DYS389II, DYS390, DYS391, DYS392 and DYS393) in the Taiwanese Han population were established. A total of 183 unrelated individuals produced 162 haplotypes, of which 146 were unique, 1 was found in 5 individuals, 2 were found in 3 individuals and 13 were found in 2 individuals. The haplotype diversity (99.99%) and discrimination capacity (88.5%) were calculated. A family study of 109 father/son pairs in 100 families showed 2 mutational events in the DYS389II locus and 1 in the DYS392 locus. Received: 20 February 2001 / Accepted: 15 May 2001     

Forensic characteristics and genetic analysis of both 27 Y-STRs and 143 Y-SNPs in Eastern Han Chinese population

Y-chromosome short tandem repeat (Y-STR) and Y-chromosome single nucleotide polymorphism (Y-SNP) frequency distributions provide resources for assessment of male population stratification among world-wide populations. Currently, the Y-STR Haplotype Reference Database (YHRD) contains numerous Y-chromosome haplotype profiles from various populations and countries around the world. However, for many of the recently discovered and already phylogenetically mapped Y-SNPs, the population data are scarce. Herein, the typing of 27 Y-STRs (Yfiler Plus) and 143 Y-SNPs (self-designed Y-SNP panel) was performed on 1269 unrelated males from 11 Han Chinese populations. Haplogroup O-M175 was the most predominant haplogroup in our Han Chinese data, ranging from 67.34% (Henan Han) to 93.16% (Guangdong Han). The highest haplogroup diversity (0.967056) was observed in Heilongjiang Han, with a discrimination capacity (DC) value of 0.3723. The number of alleles at single-copy loci varied from 2 for DYS391 (Guangdong Han) to 16 for DYS518 (Henan Han). For the majority of the populations (8/11), both the haplotype diversity and DC values are 1.0000. Furthermore, genetic differentiations were observed between Northern and Southern Han Chinese. These genetic differences were mainly reflected in haplogroup distribution and frequency, and they were confirmed by statistical analysis.