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基于DNA的方法与传统方法相结合用于检测人类白细胞抗原多态性及其在亲子鉴定中的应用。

Combination of DNA-based and conventional methods to detect human leukocyte antigen polymorphism and its use for paternity testing.

作者信息

Kereszturya László, Rajczya Katalin, Lászikb András, Gyódia Eva, Pénzes Mária, Falus András, Petrányia Gyõzõ G

机构信息

National Institute of Haematology and Immunology, Semmelweis University, Budapest, Hungary.

出版信息

Am J Forensic Med Pathol. 2002 Mar;23(1):57-62. doi: 10.1097/00000433-200203000-00013.

DOI:10.1097/00000433-200203000-00013
PMID:11953497
Abstract

In cases of disputed paternity, the scientific goal is to promote either the exclusion of a falsely accused man or the affiliation of the alleged father. Until now, in addition to anthropologic characteristics, the determination of genetic markers included human leukocyte antigen gene variants; erythrocyte antigens and serum proteins were used for that reason. Recombinant DNA techniques provided a new set of highly variable genetic markers based on DNA nucleotide sequence polymorphism. From the practical standpoint, the application of these techniques to paternity testing provides greater versatility than do conventional genetic marker systems. The use of methods to detect the polymorphism of human leukocyte antigen loci significantly increases the chance of validation of ambiguous results in paternity testing. The outcome of 2384 paternity cases investigated by serologic and/or DNA-based human leukocyte antigen typing was statistically analyzed. Different cases solved by DNA typing are presented involving cases with one or two accused men, exclusions and nonexclusions, and tests of the paternity of a deceased man. The results provide evidence for the advantage of the combined application of various techniques in forensic diagnostics and emphasizes the outstanding possibilities of DNA-based assays. Representative examples demonstrate the strength of combined techniques in paternity testing.

摘要

在亲子鉴定存在争议的案例中,科学目标是推动排除被错误指控的男子或者认定被指控父亲的亲子关系。到目前为止,除了人类学特征外,遗传标记的测定还包括人类白细胞抗原基因变体;因此红细胞抗原和血清蛋白也被用于此。重组DNA技术基于DNA核苷酸序列多态性提供了一组新的高度可变的遗传标记。从实际角度来看,将这些技术应用于亲子鉴定比传统遗传标记系统具有更大的通用性。使用检测人类白细胞抗原位点多态性的方法显著增加了亲子鉴定中模糊结果验证的机会。对通过血清学和/或基于DNA的人类白细胞抗原分型调查的2384例亲子鉴定案例的结果进行了统计分析。介绍了通过DNA分型解决的不同案例,包括涉及一名或两名被指控男子的案例、排除和未排除案例以及对已故男子的亲子鉴定测试。结果为各种技术在法医诊断中的联合应用优势提供了证据,并强调了基于DNA检测的突出可能性。代表性例子展示了联合技术在亲子鉴定中的优势。

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引用本文的文献

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Utilizing Massively Parallel Sequencing (MPS) of Human Leukocyte Antigen (HLA) Gene Polymorphism to Assess Relatedness in Deficiency Parentage Testing.利用人类白细胞抗原(HLA)基因多态性的大规模平行测序(MPS)评估缺陷亲权检测中的亲缘关系。
Genes (Basel). 2024 Jan 24;15(2):150. doi: 10.3390/genes15020150.
2
Revisiting the potential power of human leukocyte antigen (HLA) genes on relationship testing by massively parallel sequencing-based HLA typing in an extended family.重新探讨通过基于高通量测序的 HLA 基因分型在一个大家庭中进行关系测试的人类白细胞抗原 (HLA) 基因的潜在能力。
J Hum Genet. 2019 Jan;64(1):29-38. doi: 10.1038/s10038-018-0521-0. Epub 2018 Oct 22.