第19届国际法医遗传学会议论文简介

<正> 2001年8月29日～9月2日,在德国明斯特(Moster)召开了第19届国际法医遗传学会。此会议共收到来自不同国家的263篇论文,主要归纳为:(1)SNP 的复合扩增及其高通量检测技术的研究;(2)常染色体 STR 基因座复合扩增多态性及群体遗传学数据;(3)线粒体 DNA 序列多态性及其单倍型群体频率分布数据;(4)性染色体(X 和 Y)STR 基因座的复合扩增多态性和突变的研究。SNP 具有密度高、遗传稳定、分析易自动化等特点,在整个生物学界掀起了基因多态性研究的新热潮,同时为法医     

中国北方汉族群体TPH基因座-T457C位点遗传多态性

目的研究色氨酸羟化酶(tryptophan hydroxylase,TPH)基因座-T457C位点在中国北方汉族群体中的遗传多态性及其法医学应用价值。方法应用PCR-RFLP、聚丙烯酰胺凝胶电泳及银染技术,检测180例北方汉族无关个体TPH基因座-T457C位点的遗传多态性。结果TPH基因座-T457C位点在中国北方汉族群体中,其个体识别能力(DP)为0.624,非父排除率(PE)为0.187,与法国人群基因频率比较差异显著(P<0.05)。结论TPH基因座-T457C位点在法医学中有重要应用价值,其遗传多态性可能存在民族或地域差异。     

北方汉族男性人群身高特征的遗传学研究

目的研究已报道的275个身高关联性SNPs位点与中国北方汉族男性身高的关联性。方法采用基质辅助激光解吸电离飞行时间质谱(MALDI-TOFMS)方法,检测了266例中国北方汉族男性人群样本的SNPs分型。采用PLINK 1.09和SPSS 19.0软件,利用三种方案进行关联性分析,分别是:身高数值变量线性回归分析;高(≥177.5cm)和低(≤167.5cm)两组(以平均身高172.5±5cm为分组标准)进行logistic回归分析;高(≥180cm)和低(≤165cm)两组进行logistic回归分析。结果 16个SNPs位点与北方汉族男性身高有显著关联性(P0.05)。身高均值方差分析显示,已报道与亚洲人群身高关联的rs11170624和与欧洲人群身高关联的rs10037512、rs17346452、rs2629046、rs7689420、rs8052560、rs7909670等7个SNPs在北方汉族男性的身高均值中差异有意义(P0.05)。其中亚洲人群的rs11170624和欧洲人群的rs17346452、rs7689420、rs7909670对北方汉族男性身高的影响效应与之前研究一致,而另外3个欧洲人群的SNPs对北方汉族男性身高的影响效应基因及方向与欧洲人群不一致。结论本研究揭示了身高关联SNPs位点具有较明显的人群差异性,构建适合中国汉族人群的身高预测模型还需要发掘更多、更准确的身高关联性SNPs遗传信息。     

24个Y-STR基因座在云南苗族人群中的序列多态性

目的研究法医学常用Y-STR基因座在中国云南苗族男性个体中的序列多态性。方法采用M48磁珠提取纯化试剂盒提取样本DNA,使用ForenSeqTM DNA Signature Prep试剂盒制备文库,Miseq FGx平台进行测序,ForenSeq Universal Analysis v1.2.1软件进行数据分析,用Arlequin v3.5软件计算各Y-STR基因座相关的统计学参数,将Y-STR基因座长度多态性与序列多态性进行比较。结果108名云南苗族个体中共检出106种单倍型,总体单倍型多样性(HD)和Y-STR分型系统的分辨能力(DC)分别为0.9993和0.9815。24个Y-STR基因座共检出204个基因,基因多样性(gene diversity,GD)值为0.2177~0.9481,15个Y-STR基因座的GD值大于0.6。DYF387S1、DYS390、DYS389II、DYS437、DYS438、DYS448、DYS612基因座存在长度相同的基因核心序列不同的情况。结论该24个Y-STR基因座在云南苗族男性人群中具有丰富的遗传多态性。研究结果可为Y-STR数据库的建立、群体遗传学和法医学实践提供参考。     

凝血相关基因多态性与下肢深静脉血栓形成的相关性

目的探讨rs1799963(凝血因子V基因Leiden)、rs6025(凝血酶原基因G20210A)、rs1042579(血栓调节蛋白基因c.1418CT)及rs1801131(亚甲基四氢叶酸还原酶基因)4个凝血相关基因的多态性与下肢深静脉血栓形成的相关性。方法采用竞争性等位基因特异性聚合酶链反应(kompetitive allele specificpolymerase chain reaction,KASP)技术检测150例下肢深静脉血栓患者及153例健康对照者上述4个基因分型,采集相关血液生物化学指标,建立二元Logistic回归筛选下肢深静脉血栓形成的独立危险因素,校正混杂因素后在不同遗传模式下分析下肢深静脉血栓与各指标及4种凝血相关基因多态性的相关性。结果D-二聚体、纤维蛋白原降解产物、同型半胱氨酸、性别、年龄这5个变量可能是下肢深静脉血栓形成的危险因素。将这些变量引入4种基因遗传模式,在二元Logistic回归环境下进行校正,结果显示,rs1042579突变在显性遗传模式下与下肢深静脉血栓形成具有相关性。结论 rs1799963、rs6025、rs1801131的基因多态性与下肢深静脉血栓形成无明显相关性,rs1042579的基因多态性在显性遗传模式下发挥作用,可能是下肢深静脉血栓形成的独立危险因素。     

贵州黔南地区汉族人群18个STR基因座的遗传多态性

目的调查贵州黔南地区汉族人群D5S818等18个基因座的遗传多态性。方法采用国产DNATyperTM19荧光标记试剂盒,获得1104名黔南地区汉族无关个体18个STR基因座的DNA分型,并应用统计软件计算等位基因的分布频率等群体遗传学数据。结果 18个STR基因座的基因型分布均符合Hardy-Weinberg平衡(P>0.05),杂合度(H)在0.622~0.915之间,匹配概率(Pm)在0.017~0.220之间,个体识别概率(DP)在0.780~0.983之间,多态信息含量(PIC)在0.540~0.900之间,非父排除概率(PE)值在0.318~0.826之间。结论 18个STR基因座具有遗传多态性,在该地区汉族人群的多态性研究中具有较高的应用价值。     

藏獒16个STR基因座的遗传多态性

目的通过对449头藏獒的16个STR基因座遗传多态性进行研究,建立藏獒的基因多态性数据库。方法选用犬荧光标记16个STR复合扩增试剂盒进行PCR扩增,对扩增产物进行检测及统计学分析。结果 449头藏獒的16个STR基因座累积个体识别率为0.999 999 999 999 999,累积非父排除率为0.999 997 795,除FH2010(等位基因数10)、PEZ21(等位基因数12)、PEZ05(等位基因数13)外,其余STR基因座的等位基因数均在15个以上;16个STR基因座的杂合度均0.5,多态信息含量均0.7。结论 16个犬STR基因座在藏獒中具有较高的个体识别能力,可用于藏獒的个体识别和亲权鉴定。通过本研究获得的各种数据,可用于建立藏獒的DNA多态性数据库。     

华东地区汉族人群D2S1399和D5S2500基因座的遗传多态性研究

目的研究D2S1399和D5S2500基因座在中国华东地区汉族群体遗传多态性。方法应用PCR、聚丙烯酰胺垂直电泳及银染技术检测D2S1399和D5S2500基因座的遗传多态性。结果D2S1399和D5S2500基因座在中国华东汉族群体分别检出11个和9个等位基因,其观察杂合度(Ho)分别为0.745和0.807,多态信息含量(PIC)分别为0.850和0.750,个体识别能力(DP)分别为0.958和0.917,非父排除率(PE)分别为0.554和0.643。结论D2S1399和D5S2500两个基因座是高度多态性STR基因座,在法医学中有重要应用价值。     

单核苷酸多态性研究进展

单核甘酸多态性（ SNPs）是继 RFLP和微卫星多态性标记之后的新一代遗传标记系统,具有密度高、遗传稳定、分析易自动化等特点。 SNPs可通过电泳、 PCR、酶切及测序等方法检测,已广泛应用于基因作图、疾病相关性分析、群体遗传学及药物研究等领域。     

CCK受体基因多态性及与部分精神疾病症状的相关性

胆囊收缩素(CCK)不仅存在于消化系统,而且还广泛存在于中枢及外周神经系统,并以神经递质的形式通过其受体(CCK-R)发挥着重要的生理作用。CCK-R有两种类型,CCK-AR和CCK-BR。CCK-R基因具有遗传多态性,并通过影响或改变CCK对中枢神经系统的作用强度而与酒精中毒、精神分裂症、恐慌症等人类精神疾病密切相关。CCK-R基因遗传多态性的研究可能为法医学个人识别与亲权鉴定新提供新的遗传标记及为司法精神病鉴定提供参考性遗传学指标。     

骨密度测定在外伤后骨折法医临床学鉴定中的意义

目的测定外伤后骨折者的骨密度,探讨骨折鉴定中骨质疏松和外伤的关系。方法应用双能X线骨密度吸收仪进行骨密度测定,参照世界卫生组织制定的骨质疏松症诊断标准和外伤参与度评定的一般原理,对15例外伤后骨折者的临床法医学鉴定进行分析。结果15例伤者:男6例,女9例,年龄在43~85岁之间;骨密度值在0.354~1.067 g/cm2之间;7例诊断骨质疏松症,外伤参与度为50%,其中5例评定为轻微伤,2例评定为轻伤;其余8例均为骨量减少,评定为轻伤。结论骨密度测量可预测骨折危险性,有助于骨折临床法医学鉴定的伤病关系分析。     

Osteoporosis associated with the treatment of paraphilias: a clinical review of seven case reports

Osteoporosis and long-term androgen suppression in the treatment of paraphilias has been documented with surgical castration and the use of gonadotropin-releasing hormone agonists. The literature has suggested that the use of cyproterone acetate (CPA) may be protective against osteoporosis, although there are case reports of osteoporosis in men treated with CPA. This pilot study represents a case series of seven patients diagnosed with severe paraphilias and treated with CPA, leuprolide, or surgical castration. Two of the four patients treated with CPA developed significant osteoporosis, while the other two had normal bone density studies. The remaining three patients, one treated with leuprolide and two with surgical castration, had osteopenia. Based upon the current literature, the finding of significant osteoporosis in two of four patients treated with CPA, but not those treated with leuprolide or castration, is surprising. Monitoring of all patients treated with long-term androgen suppression for osteoporosis is suggested.     

Frequency of laryngeal and hyoid bone trauma in nonhomicidal cases who died after a fall from a height

A retrospective study was carried out on 93 autopsy cases who died after a fall from a height. For each case, following parameters were reported: age, sex, manner of death, estimated height of fall, ground type, estimated site of primary impact, type of laryngeal and hyoid bone trauma, presence of associated local trauma in the neck and cephalic region. Mean age of the studied population was about 33 years. Sex ratio (men/women) was 1.8. Mean height of fall was about 15 m. Manner of death was, respectively, suicide and accident in 70 and 23 cases. The type of ground was concrete in 94% of the cases. The site of primary impact was, respectively, head, front of the body, back of the body, feet/lower limbs, and lateral body in 31, 26, 19, 12, and 5 cases. Cervical soft tissue bruising without laryngohyoid fractures was found in 5 cases. Laryngohyoid fractures were found in 5 cases. These fractures could be explained by direct impact of the neck structures against the ground. The mechanism of these fractures could also be indirect fractures due to high muscle strains on the hyoid bone or thyroid cartilage due to cervical hyperflexion or hyperextension or secondary to mandible or cervical vertebral column fractures.     

中国汉族男性肩胛骨测量值与身长的关系

目的　探讨中国汉族男性肩胛骨测量值与身长的关系。方法　测量了 2 0 7例已知身长的中国汉族男性肩胛骨的 14项指标 ,用测得的数据输入计算机 ,分 3个年龄段 ,运用多元线性回归分析法 ,求出肩胛骨测量值推算身长的方程式。结果　建立了用男性肩胛骨推算身长的 9个方程式 ,其复相关系数在 0 65 99至 0 5 192之间 ,标准差在 5 13 45至 6 3 93 1之间。结论　中国汉族男性肩胛骨测量值与身长呈现一定的相关关系。     

Food labeling: health claims; calcium and osteoporosis, and calcium, vitamin D, and osteoporosis. Final rule

The Food and Drug Administration (FDA) is amending its labeling regulation authorizing a health claim on the relationship between calcium and a reduced risk of osteoporosis to include vitamin D so that, in addition to the claim for calcium and osteoporosis, an additional claim can be made for calcium and vitamin D and osteoporosis; eliminate the requirement that the claim list sex, race, and age as specific risk factors for the development of osteoporosis; eliminate the requirement that the claim does not state or imply that the risk of osteoporosis is equally applicable to the general U.S. population, and that the claim identify the populations at particular risk for the development of osteoporosis; eliminate the requirement that the claim identify the mechanism by which calcium reduces the risk of osteoporosis and instead make it optional; eliminate the requirement that the claim include a statement that a total dietary intake greater than 200 percent of the recommended daily intake (2,000 milligrams (mg) of calcium) has no further benefit to bone health when the food contains 400 mg or more of calcium per reference amount customarily consumed or per total daily recommended supplement intake; and allow reference for the need of physical activity in either of the health claims to be optional rather then required. This final rule is, in part, in response to a health claim petition submitted by The Beverage Institute for Health and Wellness, LLC.     

A comprehensive regression tree to estimate body weight from the skeleton

The purpose of this research is to estimate actual body weight (in particular obesity) from the human skeleton. Known individuals (total n=187) were studied from the Bass Collection from the University of Tennessee, Knoxville. This research combines bone density, cross-sectional geometry of the femur and skeletal pathologies. Bone mineral density was calculated for the proximal femur. Three-dimensional bone surface models were created from computed tomographic scans. Cross-sectional geometry of the femur was calculated at five locations along the diaphysis. The pathologies analyzed were heel spurs, diffuse idiopathic skeletal hyperostosis (DISH), and tibial osteoarthritis. The best regression tree model included only four variables. The first split to estimate body weight was the minimum moment of inertia (I(y) ) at the distal femur, the second was midshaft width, then anteroposterior thickness at the proximal slice and the final split was the degree of DISH (SD 17.1-31.0 kg). The ability to estimate body weight from the skeleton is one more useful tool for the osteologist.     

男性上肢长骨的测量及其最大长推算

目的探讨用上肢长骨的残骨某一项指标建立肱骨、尺骨和桡骨最大长的回规方程,然后可根据所得值间接推算人体身高。方法选男性肱骨、尺骨和桡骨50例,左、右共100侧肢体。用人体测量仪器,按体质人类学测量方法进行各项指标测量,所得值经统计学分析后,分别与肱骨、尺骨和桡骨最大长建立直线回规方程。结果经相关分析建立了肱骨最大长回规方程17个,尺骨最大长回规方程8个,桡骨最大长回规方程11个。结论若能测得上肢长骨残骨的某一项指标,就可用所建立的回规方程推算该骨的最大长,这在法医学上具有一定的参考价值。     

Food labeling: health claims; calcium consumption by adolescents and adults, bone density and the risk of fractures--FDA. Interim final rule

The Food and Drug Administration (FDA) is issuing this interim final rule to prohibit the use on foods of a claim relating to the relationship between calcium, bone density, and the risk of fractures. This interim final rule is in response to a notification of a health claim submitted under section 303 of the FDA Modernization act of 1997 (FDAMA). FDA is prohibiting the claim because section 303 of FDAMA does not apply when FDA has an existing regulation authorizing a health claim about the relationship between the nutrient and the disease or health-related condition at issue. A health claim concerning the relationship between calcium and osteoporosis is already authorized. As provided for in section 301 of FDAMA, this rule is effective immediately upon publication.     

应用锁骨薄层CT容积重建影像推算四川汉族身高

目的探讨锁骨薄层CT三维容积重建影像(CT-VRT)在身高推算中的应用价值,以期更新我国西南地区身高推算数据,为鉴定实践提供技术支撑。方法应用300例锁骨薄层CT-VRT影像,测量并计算左侧锁骨长(LCL)、右侧锁骨长(RCL)、双侧锁骨均长(ACL),分析身高与LCL、RCL、ACL相关性及性别差异,建立身高推算线性回归方程,并对所建模型进行回代检验。结果男性、女性ACL和身高的相关系数分别为0.534、0.707;LCL和身高的相关系数分别为0.484、0.680;RCL和身高的相关系数分别为0.523、0.695。分别建立ACL、LCL、RCL男女性身高推算线性回归模型。回代检验示ACL方程男性身高推算平均绝对误差(MAD)为4.48cm,女性MAD为3.51cm;LCL方程男性身高推算MAD为4.60cm,女性MAD为3.64cm;RCL方程男性身高推算MAD为4.49cm,女性MAD为3.59cm。结论建立的推算身高的回归方程具有统计学意义,模型预测精度较高,表明利用薄层CT-VRT影像测量的锁骨可运用于四川汉族人群身高推算研究。但模型R2较小,因此在应用ACL进行身高推算时最好结合其他指标。     

Baboon taphonomy and its relevance to the investigation of large felid involvement in human forensic cases

Eight complete baboon carcasses were fed individually to two captive leopards. These experimental feedings generated two separate bone assemblages, one composed of those bone specimens not ingested by the leopards (i.e., the refuse assemblage), and one composed of those bone specimens ingested and subsequently voided by the leopards (i.e., the scat assemblage). The two assemblages are separable using measurements of skeletal part representation. Distinguishing characteristics of the assemblages are summarized and explained in relation to observations of leopard feeding behavior and intrinsic qualities of baboon postcranial bones (i.e., bulk bone mineral density, maximum length, volume and cross-sectional area). Because baboons and humans share the fundamental primate body plan, these baboon carcasses approximate human cadavers ravaged by large felids. Thus, our results can inform death scene investigators about the expected human body part representation in large felid feeding residues versus those expected in regurgitations and feces. Since different body parts have different body-identification potentials, knowing these expected differences in body part representation is particularly valuable in forensic settings.