ABO血型的基因型与法医学应用

ABO血型系统是1901年由Landsteiner首先发现的第一个人类遗传标记.由于ABO血型抗原不仅存在于组织细胞,也存在于体液中,抗原相对稳定,保存较持久,分型已标准化,群体资料丰富,故在法医学上一直有着重要的地位.传统的ABO分型采用血清学方法,但其抗原属糖蛋白易失活,自然界中广泛存在类似的物质,都会影响检验效果.因DNA特殊结构,使得稳定性比蛋白更高,是携带遗传信息的物质,因此,从DNA水平对ABO基因进行分型更能准确地反映个体的差异,尤其是PCR技术对微量检材的检验,ABO血型系统的分子生物学分型法已越来越多地被应用到法医学上[1].     

ABO血型的基因型与法医学应用

ＡＢＯ血型系统是 1 90 1年由Ｌａｎｄｓｔｅｉｎｅｒ首先发现的第一个人类遗传标记。由于ＡＢＯ血型抗原不仅存在于组织细胞 ,也存在于体液中 ,抗原相对稳定 ,保存较持久 ,分型已标准化 ,群体资料丰富 ,故在法医学上一直有着重要的地位。传统的ＡＢＯ分型采用血清学方法 ,但其抗原属糖蛋白易失活 ,自然界中广泛存在类似的物质 ,都会影响检验效果。因ＤＮＡ特殊结构 ,使得稳定性比蛋白更高 ,是携带遗传信息的物质 ,因此 ,从ＤＮＡ水平对ＡＢＯ基因进行分型更能准确地反映个体的差异 ,尤其是ＰＣＲ技术对微量检材的检验 ,ＡＢＯ血型系统的分…     

年龄推断的分子生物学研究进展

法医学中传统的年龄评估主要通过对骨骼、牙齿等组织的形态学检验进行推断,误差甚大,且无法对现场遗留的一些特殊的微量检材进行年龄评估。随着细胞生物学和分子生物学的发展,在细胞和分子水平发现了一些与年龄紧密相关的指标,并提出“分子年龄”这一新概念,为相关学科进行年龄评估提供了新的技术手段。     

Lutheran血型系统的分子遗传学基础

Lutheran血型系统合有18个抗原,LU1／LU2、LU18／LU19抗原位于LU／B—CAM糖蛋白上。LU／B—CAM糖蛋白的蛋白质部分由LU基因表迭。LU基因位于19q13．2—13．3,合15个外显子、14个内含子。LU基因在转录时发生变位剪接,产生2．5、4．0kb前体mRNA。LU基因在镰状红细胞、卵巢癌和结肠上皮细胞癌呈高表达。LU／B—CAM糖蛋白是层粘素特异性受体。     

Lutheran血型系统的分子遗传学基础

Lutheran血型系统含有18个抗原,LU1/LU2、LU18/LU19抗原位于LU/B-CAM糖蛋白上。LU/B-CAM糖蛋白的蛋白质部分由LU基因表达,LU基因位于19q13.2-13.3,含15个外显子、14个内含子。LU基因在转录时发生变位剪接,产生2.5、4.0kb前体mRNA。LU基因在镰状红细胞、卵巢癌和结肠上皮细胞癌呈高表达。LU/B-CAM糖蛋白是层粘素特异性受体。     

ABO,MN,Rh和HLA血型在亲子鉴定中的限制性1例

目前 ,国内亲子鉴定常规采用ＡＢＯ、Ｒｈ、ＭＮ和ＨＬＡ -Ａ ,Ｂ等五种血清学标志进行检测 ,这五种血型系统的累计排除亲子关系概率为 97 37% [1] ,一般能满足法医学亲子鉴定需要 ,但也存在某些局限性 ,本文报告的案例即如此。Ｄ1Ｓ80位点是位于人类第 1号染色体上的ＶＮＴＲ位点(核心单元 16ｂｐ) ,是人类基因组ＤＮＡ的一个重要标记 ,符合孟德尔遗传规律 ,属显性遗传。为了提高目前用于亲子鉴定检测手段的排除能力 ,我们将ＶＮＴＲＤ1Ｓ80位点用于亲子鉴定。现报告如下。1　案　例妇女叶某诉丈夫项某由于外伤丧失生育能力 ,并称儿子是第…     

冠心病遗传性危险因素的分子生物学研究进展

冠心病是大多数国家中老年人的主要死亡原因之一。近年来 ,随着分子生物学的发展 ,对冠心病危险因素进行了广泛的研究 ,现就其危险因素的基础研究进展作一综述。１高同型半胱氨酸血症高同型半胱氨酸血症是以血中同型半胱氨酸 (Ｈｃｙ)升高为主的常染色体隐性遗传病 ,在非遗传性Ｈｃｙ血症的动脉粥样硬化病人中 ,部分存在着高Ｈｃｙ,故有些学者认为 ,高Ｈｃｙ是一种独立的致动脉粥样硬化的危险因素［１］。１ １Ｈｃｙ的代谢与高Ｈｃｙ血症Ｈｃｙ由蛋氨酸脱甲基生成 ,Ｈｃｙ 有３条代谢途径 :（１）以甲基四氢叶酸为甲基供体 ,在甲基四氢叶酸…     

分子生物学在年龄推断中的研究进展

年龄推断是法医学研究与实践的重点和难点内容之一。目前,年龄推断主要依据骨龄、牙龄等形态学方法,但误差较大、影响因素较多。近年来,随着分子生物学理论与技术的发展,研究者发现某些细胞分子水平与年龄密切相关。本文就目前细胞分子水平与年龄关系的研究进展进行综述。     

人类身高推断的分子生物学研究进展

身高作为一项重要的人体测量学特征,不仅有助于认识其他人类学特征和遗传风险因素,也是法医DNA表型研究的重要内容。对于身高的准确推断可以更完整地提供嫌疑人的表型信息,为案件侦破提供帮助。近年分子生物学技术和生物信息学快速发展,身高相关的遗传学研究也取得一定研究进展。本文主要从遗传变异和表观遗传两方面阐述身高推断的研究进展,并对今后研究方向进行展望。     

HLA血型亲权鉴定系统分析软件的开发及应用

应用FoxPro2．5系统开发了HLA亲权鉴定软件,程序运行中有汉字提示,使用方便。对63例HLA亲权鉴定案例进行复核计算,所得结果与人工计算结果一致,证明程序计算结果可靠,可在实际检案中应用。     

中国汉族人群中Dia抗原和Dib抗原的分子遗传分析

目的研究中国汉族人群Diego血型系统中Dia和Dib抗原表达的分子遗传背景。方法采用血型血清学方法对2990例非血缘关系的捐血者进行Diego血型鉴定,从中随机选择20例表现型为Di(a-b )的样本,以及筛选到的所有Di(a b-)稀有血型样本,采用PCR-SSP、DNA直接测序方法分析Diego血型基因的分子遗传背景。结果2990例捐血者中,发现Di(a b-)表现型2例,Di(a b )167例,Di(a-b )2821例。随机选择的20例表现型为Di(a-b )的DNA样本,经PCR-SSP法检测的基因型为DI2DI2,对DI基因第19外显子直接测序,2561位上碱基为C。2例稀有血型Di(a b-)的DNA序列在19外显子2561位上碱基为T,基因型为DI1DI1。结论中国汉族人群Dia和Dib抗原表达的分子遗传基础是DI基因第19外显子2561位上碱基T-C的置换,引起第854位氨基酸的改变。     

月经血鉴定与基质金属蛋白酶-11

月经血鉴定是法医血痕检验的内容之一。本文就月经血鉴定的几种经典方法进行回顾,并分析其应用局限性。基质金属蛋白酶-11是一种能降解细胞外基质的水解蛋白酶,有研究提示基质金属蛋白酶-11以其在月经血中表达的特异性和检测方法的灵敏性有可能成为对月经血鉴定的新一代标志物。本文对基质金属蛋白酶-11的结构、功能、在月经血鉴定中的应用及展望进行综述。     

Use of the global positioning system in the field recovery of scattered human remains

This study examines the Global Positioning System (GPS) as a tool for field mapping of scattered human remains or other materials in forensic investigations. Two aspects of the GPS are considered: (1) the level of accuracy that can be obtained using a mid-priced GPS unit, and (2) the effectiveness of using the GPS to map scattered materials. The positional accuracy of the GPS receiver was tested using a National Geodetic Survey (NGS) point located in Baton Rouge, LA. The utility of the GPS for mapping was investigated by setting up a mock field recovery and mapping the remains using both the GPS and traditional archeological methods. The results indicate that the positional error for a single location using GPS was less than one-half meter. However, when multiple positions were considered, the data produced on different days were not consistent. Further, the GPS receiver used in this study could not distinguish items in close association. Factors such as tree cover density, the proximity of the materials to structures or trees, and satellite positioning contributed to the erratic data. These results indicate that traditional techniques and photographs are still indispensable for mapping scattered remains or artifacts.     

Predicting the position of the source of blood stains for angled impacts

Droplets of pig's blood were dropped onto paper at different angles to the horizontal to produce blood stains. Impact velocities varied from 1.82 to 5.76 m/sec, drop size from 3.7 to 5.0 mm in diameter, and the surface sloped at angles between 22.7 degrees and 90 degrees to the horizontal. From the data a single equation relating stain size to drop size and velocity for all impact angles was produced; ab = 111.74 (Re(1/2)We(1/4))(0.75)D(o)D(o) + 0.00084 with R(2) = 0.88, where a is the stain width, b the stain length, Re the Reynolds number, and We the Weber number. A second equation related the number of spines, N, to drop size, velocity, and surface slope for all impact angles as N = 0.76 We(0.5) sin(3)theta with R(2) = 0.9, where theta is the impact angle. Combining these equations the impact velocity can be determined and hence the position of the stain's source.     

The use of crossover immunoelectrophoresis to detect human blood protein in soil from an ambush scene in Kosovo

This study examines the survivability of human blood proteins in soils from a year and a half old ambush scene in Kosovo. A total of 72 soil samples were collected, a number of which were directly associated with bone fragments or bullet projectiles. The samples were examined using crossover immunoelectrophoresis (CIEP) to determine the presence of blood protein and species affiliation. Human blood proteins were identified in 44 of the 72 samples (61%) with the majority of the positive observations (29 of 44) found 0.0-4.5 cm below ground surface (65%). Chi-squared and two-sample difference of proportions tests confirmed significant differences between samples with and without associated physical evidence and the presence and depth of human blood proteins. While DNA has largely replaced immunological analysis in forensic analyses, our results suggest that in particular situations, CIEP may still be a valuable tool in criminology.     

Exsanguinated blood volume estimation using fractal analysis of digital images

The estimation of bloodstain volume using fractal analysis of digital images of passive blood stains is presented. Binary digital photos of bloodstains of known volumes (ranging from 1 to 7 mL), dispersed in a defined area, were subjected to image analysis using FracLac V. 2.0 for ImageJ. The box-counting method was used to generate a fractal dimension for each trial. A positive correlation between the generated fractal number and the volume of blood was found (R(2) = 0.99). Regression equations were produced to estimate the volume of blood in blind trials. An error rate ranging from 78% for 1 mL to 7% for 6 mL demonstrated that as the volume increases so does the accuracy of the volume estimation. This method used in the preliminary study proved that bloodstain patterns may be deconstructed into mathematical parameters, thus removing the subjective element inherent in other methods of volume estimation.     

分子印迹技术及其在司法鉴定领域的应用

分子印迹技术（MIT）是制备对特定目标分子具有分子识别功能聚合物（MIPs）的一门技术,由于MIPs具有的选择性,被广泛应用于各领域。对MIT和MIPs进行了介绍,并对其在司法鉴定领域的应用进行了综述。