2个STR基因座变异亲子鉴定1例

1案例一自称孩子父亲的男子（假设父）携孩子和孩子母亲要求进行亲子鉴定。采集指血备检。Chelex-100法提取样本基因组DNA,采用IdentifilerTM试剂盒（美国AB公司）进行STR检验．发现D5S818基因座不符合孟德尔遗传规律．     

联合应用STR和SRY基因分型技术分析性分化异常者

目的对Amelogenin分型结果为“X,X”的一名“男孩”进行性别确认。方法采用STR检测和SRY基因检测技术进行分析。结果孩子STR、X-STR的检验结果符合女性性别特征,SRY基因检测结果为阴性。结论应用STR、X-STR检测和SRY基因检测技术可以确证“男孩”Amelogenin基因座结果为“X,X”,推断其患有“46,XX”男性性反转综合症。     

争议父与生父存在近亲血缘关系1例

正1案例1.1简要案情当事人王某怀疑孩子为其妻子与父亲所生,携带本人、孩子生母及孩子血样来本中心,要求鉴定自己与孩子之间是否存在亲生血缘关系。经常染色体STR分型检测和Y-STR分型检测之后无法排除王某与孩子之间的亲生血缘关系,因此补送王某父亲样本进行检测。     

STR分型中无效等位基因的分析研究

PCR-STR自动分型技术是当前法医学个体识别和亲权鉴定的主要技术,具有高灵敏度、高鉴别能力和标准化自动分型等特征[1].在STR自动分型时,也会出现一些影响其准确分型的因素,本文结合1例三联体亲权鉴定中父亲与孩子Penta基因座上不符合遗传规律现象,通过用3种不同试剂盒、改变退火温度、重新设计引物以及测序等方法,对STR分型中无效等位基因现象进行分析和探讨.     

亲子鉴定中胚胎融合嵌合体1例

正1案例1.1简要案情本中心受理因孩子办理出生证明需要而进行的亲子鉴定1例,征得当事人同意,采取母亲、父亲及孩子(男孩)血样,进行STR分型实验。结果显示,孩子与父亲之间存在亲生血缘关系,而母亲与孩子之间不存在亲生血缘关系,因此进一步采集母亲口腔拭子及带毛囊的毛发进行STR分型实验,母亲静脉血进行     

用寡核苷酸探针进行的DNA指纹分析在亲权鉴定中的应用

本文对寡核苷酸探针(CAC)_5/(GTG)_5用于亲权鉴定进行了研究,应用Essen-Moiler公式计算出(CAC)_5/(GTG)_5探针检测的平均父权概率为0.999845,并对两起亲权鉴定案进行检测,分别排除和肯定了嫌疑父亲为孩子的生物学父亲。     

全国首例『学校污染』案追踪

三年前,北京市昌平区南口中心七间房小学在学生放暑假时,对校舍进行翻新、整修,并在学生上课对教室内的暖气管进行刷漆维护.浓烈的油漆味,让四年级女生吴群产生了强烈的身体不适,呕吐、头疼,身体出现了红疹、淤青.最终被北京市儿童医院确诊为急性再生障碍性贫血.女儿病后,父亲吴建军认为,是学校的“毒教室”导致孩子病发,学校必须承担孩子的治疗费用.     

亲权鉴定(续一)

<正> 父权否定一、父权否定的原则下列4种情况,可以否定被控父亲(AF)为孩子的生父:1.当孩子有某种遗传标记(G.M),而生母及 AF 皆无(表1);2.孩子没有 AF 所具有的两个 G.M 之一;3.孩子是某种 G.M 的纯合子,而生母及 AF 皆无;4.AF 是某种 G.M 的纯合子,孩子却无。     

未成年子女免除父（母）抚养义务效力探讨

一个10岁的男孩．在父母离婚中。对下岗父亲极为同情，坚持要免除父亲的抚养之责。其母依他后独自担起了抚育的担子。两年后。母亲也被下岗．抚育能力随之削弱。母亲便以孩子的名义提起诉讼，要求孩子的父亲承担抚育责任。法庭上．父亲出示孩子书写的意见，以孩子的免责意思表示推卸抚育责任．同时，还以孩子反对母亲起诉为由，请求驳回名为孩子实为其母的诉讼请求。     

父亲没有成就

他出生在一个贫寒家庭,在同龄的孩子中,他常常因为衣着寒酸而招人耻笑.在16岁生日即将到来的时候,他希望父亲能给自己买一条牛仔裤,以此作为生日礼物.在当地,男孩16岁就意味着成人,所以在16岁生日那天,父母一般都会送一份孩子渴望的礼物,祝福孩子走向成年.     

联合应用常染色体STR和X-STR标记鉴定单亲疑难案例

目的通过对常染色体和X染色体遗传标记的检测,探讨单亲疑难案例的鉴定策略。方法提取3个单亲鉴定案例的6份血样,采用Goldeneye 20A试剂盒和AGCU21＋1试剂盒检测常染色体上39个STR基因座,采用自主研制的16重X-STR扩增系统检测X染色体上16个STR基因座。结果用Goldeneye 20A试剂盒检测后发现每个单亲案例均有一个基因座不符合遗传规律,当常染色体STR基因座增加到39个时,案例1累计出现3个矛盾基因座;案例2和案例3均没有出现新的矛盾基因座。X染色体STR分型结果显示案例1有8个矛盾基因座,案例2和案例3无矛盾基因座,与常染色体分型结论相符。结论对于出现单基因座不符合遗传规律的母女、母子、父女单亲案例鉴定,不仅可以增加新的常染色体STR检测,也可以增加X染色体STR的检测,这样在相互验证的同时也能获得更加可靠的鉴定意见。     

A X-chromosome STR hexaplex as a powerful tool in deficiency paternity cases

The X-chromosome short tandem repeat (STR) markers have been described as very adequate tools for solving deficiency paternity cases and kinship tests when women are involved. In the absence of the alleged father, presumed paternal relationship can be more efficiently investigated by using a set of six to ten X-STR markers compared to fifteen autosomal STR. For this study, we compared the usefulness of a X-STR hexaplex developed in our laboratory (DXS7133, DXS7424, DXS8378, DXS6807, DXS7423 and DXS8377) and the commercial kit Identifiler in solving deficiency paternities. We have worked on distinct groups of caseworks involving daughters, their mothers and presumed paternal grandmothers or putative half sisters and their respective mothers. The PCR products were separated by capillary electrophoresis and detected in an ABI Prism 3100. In the majority of the caseworks (>90%), the likelihood ratio (LR) obtained by using the X-STR hexaplex was higher than the LR value observed when the Identifiler kit was used for genotyping. The combination of the two STR typing systems was able to solve all the cases.     

应用Miseq FGx平台检测降解骨骼样本效果初探

目的评估Miseq FGx平台检测降解骨骼样本效果。方法对10例基于PCR-CE方法 STR分型结果不理想的降解骨骼样本用Miseq FGx平台检测,比较两个平台STR位点的检出结果和检出率。结果 10例降解骨骼样本在Mi Seq FGx平台上的STR位点检出率均高于PCR-CE方法,一些用PCR-CE方法没有检出的STR位点,很有可能在Miseq FGx平台中检出。同时,Miseq FGx平台测序还获得了X-STR、Y-STR、SNP等遗传标记的大量信息。结论 Mi Seq FGx平台检测降解骨骼样本有较好的应用价值。     

Simultaneous detection of multiple STR loci on sex chromosomes for forensic testing of sex and identity.

The forensic usefulness of X and Y chromosomal STR loci has recently been demonstrated. One quadruplex-PCR, using 2 X- and 2 Y-STRs (STRX1/HPRTB and DYS390/ DYS393), and 2 duplex-PCRs, each using an X- and a Y-STR (ARA/DYS390 and ARA/DYS393), and detection of PCR products by using an automated DNA sequencer are reported herein. This approach allows us to determine not only the sex of the donor of a sample, but also the X- and/or Y-STR genotypes of the sample. A male biological specimen yields 4 amplified products in quadruplex-PCR and 2 amplified fragments in duplex-PCRs, whereas a female biological specimen yields only 2 amplified fragments of X-STR in quadruplex-PCR and one fragment, also of X-STR, in duplex-PCRs. Our study thus provides useful information for many activities in forensic practice, such as identity testing, paternity testing, especially of deficiency cases, compilation of population data, and sex determination of a biological sample from a single PCR.     

常染色体STR和X染色体STR联合应用于姑侄和叔侄关系鉴定

目的通过对常染色体STR和X染色体STR基因座进行分型检验,探讨姑侄、叔侄关系的鉴定策略。方法提取案例中被检女孩和另外3名个体（女性2名,疑为被检女孩的姑姑;男性1名,疑为被检女孩的叔父）的血样DNA,采用Goldeneye 20A系统和AGCU 21＋1系统分别进行常染色体STR基因座的复合PCR扩增,用Mentype○RArgus X-12试剂盒和本室自主研制的16重X染色体STR扩增体系分别进行X染色体STR基因座的复合PCR扩增,用3130 XL遗传分析仪进行毛细管电泳和基因型分析。结果依据常染色体STR基因型结果及姑侄、叔侄关系指数计算结果,不排除2名被检姑姑和与被检女性存在姑侄关系;不排除被检叔叔和与被检女性存在叔侄关系,X染色体STR分型结果支持此鉴定意见。结论对于姑侄、叔侄关系鉴定案例,X染色体STR基因座是常染色体STR基因座的良好补充,两者联合运用可获得可靠的鉴定意见。     

Y-STR的法医学分析及侦查学应用

人类Y染色体有其独特的遗传特点,男性子代的Y染色体必须来自于父亲,这在＂中国姓氏＂父系遗传的特点类似,所以Y染色体STR基因座又称为“姓氏基因”。将Y-STR检测技术与“姓氏”相结合,通过侦查等手段的紧密配合,在强化法医学分析和侦查学研判的基础上,可以帮助缩小侦查范围,实现主动侦查、主动破案。     

Combining autosomal and Y-chromosomal short tandem repeat data in paternity testing with male child: methods and application

Paternity testing is being increasingly requested with the aim of challenging presumptive fatherhood. The ability to establish the biological father is usually based on the genotyping of autosomal short tandem repeat (STR) in alleged father, mother and child, but the use of Y-chromosomal STR has gained interest in the last few years. In this work, we propose a new probabilistic approach that combines autosomal and Y-chromosomal STR data in paternity testing with father/son pairs taking into account mutation events. We also suggest a new two-stage approach where we first type Y-STRs and possibly autosomal STR for the putative father and son, conditional on Y-STR results. We applied this approach to 22 cases. Our results show that Y-STRs can identify nonpaternity cases with high accuracy but need to be validated with autosomal STR to establish paternity. Moreover, the two-stage approach is less costly than the standard approach and is very useful in motherless cases.     

Possible applications of Y chromosome STRs in examination of abortion tissue

By application of Y-chromosomal STRs, DNA analysis of abortion material can be considerably facilitated since great excess of maternal DNA is tolerated without disturbing the Y-STR amplification. If paternity can't be excluded on the basis of the Y-STR haplotype, further examinations must follow, e.g. autosomal STR analysis. For this purpose, histological preparation of the abortion tissue might still be necessary. Different Y-chromosomal haplotypes of embryo and putative father usually lead to an exclusion from paternity. Based on four case examples, the feasibility of this method is discussed.     

24个X-STR及7个Y-STR基因座复合扩增体系建立及法庭科学有效性验证

目的建立24个X-STR基因座及7个Y-STR基因座的复合扩增体系,进行24个X-STR基因座的遗传多态性调查,并评价该体系的法医学应用价值。方法采用六色荧光标记技术,对24个X-STR基因座(DXS6803,DXS10159,DXS10146,DXS7132,DXS10075,DXS8378,DXS7424,DXS101,DXS6795,HUMARA,DXS10074,DXS6801,DXS6789,DXS10135,GATA144D04,DXS7423,DXS10101,HPRTB,DXS10148,GATA165B12,DXS10103,DXS8377,DXS6797,DXS6810)进行复合扩增和毛细管电泳检测;调查山东汉族1057名无关男性个体24个X-STR基因座的遗传多态性,并对系统性能进行评价。结果本文建立的复合扩增体系中的24个X-STR基因座,在1057名个体中共检出1057种单倍型。方法特异性好,分型结果准确稳定,灵敏度达0.0625ng,实际案例常见生物检材的检验结果良好。结论该复合扩增检测体系可以用于实际案例检验,弥补商品化X-STR基因座复合扩增检测体系的不足,联合应用加入的Y-STR基因座适用于混合斑的鉴别。     

Autosomal and Y-STR mutations in Lithuanian population

The new approach is given in this work combines autosomal and Y-chromosomal short tandem repeats (STRs) data in paternity testing with father/son pairs taking into account mutation events. Our results show that Y-STRs can identify nonpaternity cases with high accuracy but need to be validated with autosomal STR to establish paternity. Autosomal and Y-STR mutations give disputing questions in paternity testing as well.