3个STR基因多态性与男性身高的关系

目的探讨DYS458、DYS391、DYS392多态性与畲族健康男性身高之间的关系。方法调查长期居住在福建的畲族健康男性152例,测量其身高。应用AmpFlSTR~ Yfiler~TM荧光标记复合扩增系统及自动测序法,对152例研究对象进行DYS458、DYS391、DYS392的等位基因分型。结果方差分析结果显示,畲族成年男性DYS458各等位基因之间的身高差异有统计学意义(0.05),DYS391、DYS392各等位基因之间的身高差异无统计学意义(0.05)。结论 DYS458可能是影响男性身高增长的基因之一。     

福建畲族17个染色体短串联重复序列基因座遗传多态性

目的:调查Y染色体17个短串联重复序列(Y-STR)基因座的多态性及其单倍型在福建畲族人群的分布情况.方法:应用AmpFlSTR(@)YfilerTM荧光标记复合扩增系统,对福建畲族152名无关男性个体血液样本进行17个Y-STR位点的复合扩增,应用ABI PRISM 310遗传分析仪对扩增产物进行检测分析.结果:DYS456、DYS389 Ⅰ、DYS390、DYS389Ⅱ、DYS458、DYS19、DYS385a\b、DYS393、DYS391、DYS439、DYS635、DYS392、Y-GATA-H4、DYS437、DYS438、DYS448各位点遗传多样性(gene diversity,GD值)分布在0.419 6～0.944 7之间.17个Y-STR位点共同构成的单倍型150种,其单倍型多样性为0.999 825 7.结论:福建畲族17个Y-STR位点具有丰富的遗传多样性,可为父权鉴定和父系进化研究提供有价值的遗传学资料.     

浙江畲族DYS287、DYS440位点的多态性研究

目的　研究浙江畲族人群中DYS2 87和DYS44 0位点的多态性。方法　采用聚合酶链反应扩增DYS2 87和DYS44 0 ,PCR产物用 2 %的琼脂糖电泳分析 10 0名畲族个体的基因型。结果　 10 0名个体DYS2 87位点全部是YAP-;没有发现YAP ;10名为DYS44 0 3 ,占总人群数的 10 % ,其余 90名是DYS44 0 4。结论　浙江畲族人群DYS2 87和DYS44 0多态性与属于汉藏语系的其它民族之间存在着明显的不同 ,因此这两个基因位点对研究人类的进化是一种稳定的、重要的遗传标记。     

潮汕地区汉族人群12个Y短串联重复序列基因座遗传多态性分析

目的调查潮汕地区汉族人群12个Y染色体短串联重复序列基因座的遗传多态性。方法应用PowerPlex^TM Y荧光标记复合扩增系统，对潮汕地区121名无关男性个体血样进行12个Y染色体短串联重复序列基因座的复合扩增，用ABIPRISM 3100遗传分析仪对扩增产物进行检测分析。结果DYS19、DYS437、DYS389Ⅰ、DYS389Ⅱ、DYS438、DYS439、DYS393、DYS391、DYS390、DYS392基因座检出4—7个基因型，DYS385检出35个等位基因组，各基因座遗传多样性（gene diversity，GD值）分布在0．4445—0．9525之间，DYS385基因座最高。结论上述12个Y染色体短串联重复序列基因座构成的单倍型在潮汕人群中具有较高的遗传多态性，适用于法医个体识别和亲权鉴定、遗传学及人类学的相关研究。     

宁夏回族群体12个Y染色体短串联重复序列基因座多态性研究

目的获得12个Y染色体短串联重复序列(Ychromosome short tandem repeat,Y-STR)位点(DYS19、DYS389Ⅰ、DYS389Ⅱ、DYS390、DYS391、DYS392、DYS393、DYS385a、DYS385b、DYS437、DYS438、DYS439)在宁夏回族群体的多态性分布。方法应用PowerPlex○RY荧光标记复合扩增试剂盒,对宁夏回族群体150名无关健康男性个体基因组DNA进行复合扩增,用ABI377测序仪对扩增产物进行检测,统计12个Y-STRs位点群体遗传学参数。结果12个基因座共检测出75个等位基因,频率分布在0.0067～0.7067之间,基因多样性(gene diversity,GD)分布在0.4446～0.8877之间。在150名无关个体中,共有148种不同的单倍型,其中只有两种单倍型分别为两名个体共有,12个Y-STRs位点联合构成的单倍型多样性为0.9864。结论12个Y-STRs基因座在宁夏回族群体具有较强的个体识别能力,可应用于群体遗传学及法医学研究。     

福州地区DYS516基因座频率调查

目的调查DYS516基因座在福州地区汉族人群中的频率分布。方法应用聚合酶链式反应(PCR)、聚丙烯酰胺凝胶电泳及银染显带技术对福州地区汉族无关个体男性110名和女性20名的DYS516位点进行分型。结果福州地区汉族男性DYS516基因座观察到13、14、15、16、17和18共6个等位基因,基因频率分别为0.2455、0.3364、0.3000、0.0727、0.0273和0.018。基因变异度为0.7370。测序表明该基因座含5个串联重复区,其中一个为可变重复区,重复序列为cttt。结论DYS516基因座在福州汉族人群中具有较高的遗传多态性。     

中国南方汉族群体九个短片段长度Y-STR基因座的遗传多态性及其法医学应用

目的研究中国南方汉族群体中，扩增产物片段长度在180bp以下的9个Y染色体的短串联重复（Y-short tandem repeal，Y-STR）基因座的遗传多态性，并用于法医学鉴定。方法采用PCR复合扩增和基因测序仪荧光检测方法，检测213个无关男性个体，调查南方汉族的9个Y-SIR基因座的等位基因频率和单倍型频率，并对84对真父子和36对非父子的亲子鉴定样本进行检测。结果213个无关男性个体中，DYS426基因座检出3个等位基因，DYS393、DYS460、DYS391和DYS389 Ⅰ基因座均检出了5个等位基因，DYS456基因座检出6个等位基因，H4和DYS388基因座检出7个等位基因，DYS458基因座检出8个等位基因。除DYS426基因座的基因多样性（gene diversity，GD）值（0．1489）较低外，其余8个基因座的GD值介于0．5064～0．9133。9个Y-SIR基因座的单倍型共有178种，其中154种单倍型仅出现1次，单倍型多样性达0．9983。在84对真父子中，未观察到基因座突变。检测36对非父子，有2个Y-STR基因座排除的案例有2例（5．56％）；有3个和3个以上的Y-STR基因座可以排除父子关系的案例为33例（91．67％）；9个Y-SIR基因座不能排除父子关系的有1例。结论9个Y-SIR基因座具有丰富的遗传多态性，该短片段长度Y-STR基因复合荧光扩增系统可用于法医学个体识别和亲子鉴定。     

男性不育人群17个Y染色体短串联重复基因座无效等位基因分析

目的 探讨17个Y染色体短串联重复(Y-short tandem repeat,Y-STR)在遗传缺陷相关的男性不育群体中基因座分型时无效等位基因现象.方法 应用改良多重PCR体系进行序列标签位点(sequence tagged sites,STS)检测,对236例非梗阻性无精、严重少精男性个体进行Y染色体无精子症因子(azoospermia factor,AZF)微缺失检测及分型;应用AmpFISTR(R) YfilerTM体系在上述人群中进行17 Y-STR(DYS19、DYS389Ⅰ、DYS389Ⅱ、DYS390、DYS391、DYS392、DYS393、DYS437、DYS438、DYS439、DYS385a/b、DYS448、DYS456、DYS458、DYS635、Y-GATA-H4)基因分型.结果 上述人群中AZF的总缺失率为16.95％(40/236):非梗阻性无精症患者存在13例AZFc缺失,6例AZFb+c缺失,2例AZFa缺失,1例AZFb缺失.严重少精子症患者存在17例AZFc缺失,1例AZFb缺失.未发现AZFa+b+c缺失.40例不育个体通过17 Y-STR检测在DYS438、DYS439、DYS437、DYS389Ⅰ、DYS389Ⅱ、DYS392、DYS385a/b、DYS448基因座发现了无效等位基因.2例AZFa缺失个体具有DYS438、DYS439、DYS437、DYS389Ⅰ、DYS389Ⅱ等位基因缺失;2例AZFb缺失个体具有DYS392、DYS385a/b等位基因缺失;30例AZFc缺失个体具有DYS448等位基因缺失;6例AZFb+c缺失个体具有DYS392、DYS385a/b、DYS448等位基因缺失.在其他男性不育个体中未见Y-STR缺失.结论 Y染色体AZF微缺失是无精症、严重少精子症的主要遗传因素,这种缺失造成法医学相关的Y染色体短串联重复基因座缺失,在性侵犯案件中可导致错误的解释.阐明Y-STR在男性不育人群中的异质性在法医DNA鉴定中可以更好地完善Y-STR数据库和提高STR数据的解释能力.     

藏族CYP17与CYP19基因多态性与身高的相关关系

目的:探讨西藏藏族人群CYP17与CYP19基因多态性与人体身高发育的关系.方法:收集长期居住西藏且体检健康的藏族人血液标本200例(男108例,女92例),并同时测量其身高,提取DNA,设计引物,通过RFLP-PCR法对CYP17基因多态性进行检测;对CYP19基因经PCR扩增,电泳并回收后进行直接测序.结果:CYP17基因MspA1Ⅰ酶切位点基因多态性与藏族男性身高发育有关;与女性身高发育无明显相关性.CYP19基因多态性与男、女身高均无相关.结论:CYP17基因可能是影响藏族男性身高个体差异的基因之一,而CYP19基因对藏族人群身高影响不明显.     

广西毛南族17个Y染色体短串联重复序列基因座遗传多态性

目的:调查17个Y染色体短串联重复序列(Y-STR)基因座及其单倍型在广西毛南族人群中的分布情况.方法:应用AmpFlSTR YfilerTM荧光标记复合扩增系统,对毛南族208名无关男性个体血样进行17个Y-STR位点的复合扩增,用ABI PRISM310遗传分析仪对扩增产物进行检测分析.结果:DYS456、 DYS389Ⅰ、 DYS390、 DYS389Ⅱ、 DYS458、 DYS19、 DYS385a＼b、 DYS393、 DYS391、 DYS439、 DYS635、 DYS392、 Y-GATA-H4、 DYS437、 DYS438、 DYS448各位点遗传多样性(GD值)分布在0 5852～0 9770之间.17个Y-STR位点共同构成的单倍型205种,其单倍型多样性为0 999785.广西毛南族与其他群体的Y-STR位点等位基因分布差异具有统计学意义.结论:广西毛南族17个Y-STR位点具有丰富的遗传多样性,可为父权鉴定和父系进化研究提供有价值的遗传学资料.     

Molecular characterisation of four human Y-specific microsatellites (DYS434, DYS437, DYS438, DYS439) for population and forensic studies

In this work we present results on DYS434, DYS437, DYS438 and DYS439 loci studied in three population samples from North Portugal (N: 69), Macao (N: 59) and Mozambique (N: 64). Gene and haplotype diversity values are presented and compared. Gene diversity values ranged from 0.0290 to 0.0620 for DYS434; 0.0615 to 0.5959 for DYS437; 0.4906 to 0.6424 for DYS438; 0.5873 to 0.7038 for DYS439. The highest average gene diversity was found in Macao and the lowest in Mozambique. Haplotype diversity in North Portugal, Macao and Mozambique was calculated to be 0.925, 0.928 and 0.787, respectively.
Allele and haplotype frequency distributions for all markers were compared between the three populations. At the haplotype level all the differences between pairs of samples were significant. Sequencing analysis was performed for all alleles found in the four loci. Identical flanking sequences were observed with most of the alleles differing only by the repeat number. However, two variations were found in allele 10 of DYS438: one in a Macao sample presenting a TTTTA before the last TTTTC repetition and one in a Portuguese sample showing a base substitution (A/C) at position 7 downstream from the tandem repeat. A base substitution (C/T) at position 3 upstream from the repeat motif was also found in allele 14 of DYS437 in a sample from Mozambique.     

Evaluation of 14 Y-chromosomal Short Tandem Repeat Haplotype with Focus on DYS449, DYS456, and DYS458: Czech Population Sample

Aim

To evaluate the novel triplex polymerase chain reaction (PCR) assay for the analysis of polymorphic Y-chromosomal short tandem repeat loci (Y-STR).

Methods

A total of 14 Y-STR loci was analyzed. Allele frequencies for 3 tetrameric Y-STR loci (DYS449, DYS456, and DYS458) and extended haplotype loci typed by Y-PLEX^TM 12 system were investigated in a sample of 50 unrelated healthy Czech male donors. We computed the relevant intra-population statistic parameters for our data (gene diversity, average gene diversity over loci, and mean number of pairwise differences) and compared our sample set with other Central European populations using R_ST pairwise genetic distance.

Results

We focused on the comparison of genetic diversity between the Y-STR extended haplotype loci and that of the 3 additional loci, and on the benefit of using DYS449, DYS456, and DYS458 in forensic and population genetics applications. Total gene diversity in our sample set was 0.998367 when using all 14 loci. Our data analysis revealed very high genetic diversity at DYS449 locus (0.876735), which surpasses even the diversity at DYS385a/b (0.819592). Population comparison showed no difference between Czech, Bavarian, Austrian, and Saxon sample set. A minor difference was found between Czech and Polish sample set.

Conclusion

Typing of 3 Y-chromosomal microsatellite polymorphisms may provide a useful complement to already established sets of Y-STRs.DNA typing using a number of polymorphic short tandem repeats on human Y chromosome (Y-STR) has already become a broadly applied approach in areas such as forensic genetics and paternity testing (1). Also, the possibility of amplification of multiple STRs in a single polymerase chain reaction (PCR) provides a very efficient and reliable genotyping tool. Until recently, 219 Y-STRs have been described (2), most of which are polymorphic. In forensic genetics applications, Y-STRs are useful for discrimination of paternal lineages rather than for individual identification. In combination with the biallelic polymorphisms, Y-STRs are also applied in population genetic studies.The main aim of this study was to design a triplex PCR assay that allows fragmentation analysis of samples labeled with only one fluorescent dye. The loci DYS449, DYS456, and DYS458 were chosen for their reported high diversity in Euro-American population (3), as well as for their absence in the broadly used commercial forensic kits (PowerPlex® Y System [Promega, Madison, WI, USA], Mentype® Argus Y-12QS [Biotype, Dresden, Germany]), although DYS456 and DYS458 (not DYS449) are included in widely used AmpFℓSTR® Yfiler® PCR Amplification Kit (Applied Biosystem, Foster City, CA, USA) (4). DYS449 and DYS456 have also been used, together with other 25 Y-STR loci, in a major population study (5). Here we report on allele frequency data and basic intra-population diversity indices of the 3 Y-STRs, as well as those of 11 other Y-STR loci included in the extended haplotype set that were analyzed in the Czech population sample.     

Haplogroup-specific deviation from the stepwise mutation model at the microsatellite loci DYS388 and DYS392

Deviation from the stepwise mutation model (SMM) at specific human microsatellite loci has implications for population genetic and forensic investigations. In the present study, data on six Y chromosome-specific microsatellites were pooled for 455 paternally unrelated males from six Middle Eastern populations. All chromosomes were assigned to three haplogroups defined by six binary polymorphisms. Two of the microsatellite loci tested, DYS388 and DYS392, displayed marked haplogroup-specific differences in their allele variability. A bimodal distribution of short and long alleles was observed for DYS388 in haplogroup 1 and for DYS392 in haplogroups 1 and 2. Further investigation showed that the short/long alleles segregated almost completely between genealogically distinct haplogroups defined by additional binary markers. Thus, these two loci have a discriminatory power similar to a binary polymorphism. DYS388 was characterised by an extremely low mutation rate in haplogroups 2 and 3, as was DYS392 in haplogroup 3. Sequence analysis of the repeat regions at the two loci revealed no irregularities, indicating that the triplet expansion in these loci is not controlled by sequence variation at the repeat level. A high frequency of long DYS388 alleles has, so far, been found only in populations originating in the Middle East, suggesting that this microsatellite is useful as a region-specific marker.     

精子发生相关基因DYS1的分析

用ＰＣＲ方法检测了核型正常（４６，ＸＹ）的９５例无精子症患者和３５例严重少精子症患者基因组ＤＮＡ中的ＤＹＳ１，发现４例无精子症患者有ＤＹＳ１的丢失，严重少精子患者中发现３例有ＤＹＳ１的丢失。结果表明：应用ＰＣＲ法检测ＤＹＳ１基因片段是切实可行的，对无精子症和严重少精子症患者的病因诊断具有一定的应用价值。     

High frequencies of Y chromosome lineages characterized by E3b1, DYS19-11, DYS392-12 in Somali males

We genotyped 45 biallelic markers and 11 STR systems on the Y chromosome in 201 male Somalis. In addition, 65 sub-Saharan Western Africans, 59 Turks and 64 Iraqis were typed for the biallelic Y chromosome markers. In Somalis, 14 Y chromosome haplogroups were identified including E3b1 (77.6%) and K2 (10.4%). The haplogroup E3b1 with the rare DYS19-11 allele (also called the E3b1 cluster gamma) was found in 75.1% of male Somalis, and 70.6% of Somali Y chromosomes were E3b1, DYS19-11, DYS392-12, DYS437-14, DYS438-11 and DYS393-13. The haplotype diversity of eight Y-STRs ('minimal haplotype') was 0.9575 compared to an average of 0.9974 and 0.9996 in European and Asian populations. In sub-Saharan Western Africans, only four haplogroups were identified. The West African clade E3a was found in 89.2% of the samples and the haplogroup E3b1 was not observed. In Turks, 12 haplogroups were found including J2*(xJ2f2) (27.1%), R1b3*(xR1b3d, R1b3f) (20.3%), E3b3 and R1a1*(xR1a1b) (both 11.9%). In Iraqis, 12 haplogroups were identified including J2*(xJ2f2) (29.7%) and J*(xJ2) (26.6%). The data suggest that the male Somali population is a branch of the East African population - closely related to the Oromos in Ethiopia and North Kenya - with predominant E3b1 cluster gamma lineages that were introduced into the Somali population 4000-5000 years ago, and that the Somali male population has approximately 15% Y chromosomes from Eurasia and approximately 5% from sub-Saharan Africa.     

无精症和严重少精症DYS240基因位点的分析

无精子因子的缺失将导致无精子症和严重少精子症。研究应用多聚酶联反应方法分析了６５例核型正常的无精子症和２５例核型正常的严重少精子症患者的ＤＹＳ２４０基因位点。结果显示，无精子症患者中６例缺失ＤＹＳ２４０基因位点，严重少精子症患者中４例缺失ＤＹＳ２４０基因位点。结果提示，ＤＹＳ２４０基因是ＡＺＦ的一个重要的候选成分。     

广西壮族、白裤瑶族DYS287位点多态性研究

目的调查Y染色体特异的Alu序列插入基因座DYS287的遗传多态在广西壮族、瑶族群体中的多态性分布。方法采用聚合酶链反应结合琼脂糖凝胶电泳检测方法对120例壮族居民、120例瑶族居民样本DYS287位点多态性进行分析。结果两民族人群均未发现插入阳性个体。结论获得广西壮族、瑶族群体DYS287位点多态性数据,为该民族遗传关系的分析、法医学鉴定及该民族的起源提供了一定的遗传背景资料。