CAJ | 학술논문

目的：通过对人类 DNA 进行突变基因检测推断该 DNA 供者是否患特定遗传病，建立对 DNA 样本突变检测的方法，运用于法庭科学的 DNA 来源人特征刻画领域，为案件侦查提供线索。方法根据遗传性耳聋、β-地中海贫血、葡萄糖-6-磷酸脱氢酶缺乏症三类遗传疾病各突变位点在中国人群中的出现概率，挑选了20个位点，设计引物，利用等位基因特异性 PCR 和毛细管电泳技术构建推断这三类遗传疾病的 PCR 检测体系。结果构建了包含20个突变位点，能够同时检测遗传性耳聋、地中海贫血、葡萄糖-6-磷酸脱氢酶（G6PD）三类遗传疾病的毛细管电泳复合扩增实验体系。结论在法医学实验室开展检材 DNA 来源人的疾病特征推断是可行的。通过进一步研究发展，该技术有望在刑事案件侦查中发挥作用。
목적：통과대인류 DNA 진행돌변기인검측추단해 DNA 공자시부환특정유전병，건립대 DNA 양본돌변검측적방법，운용우법정과학적 DNA 래원인특정각화영역，위안건정사제공선색。방법근거유전성이롱、β-지중해빈혈、포도당-6-린산탈경매결핍증삼류유전질병각돌변위점재중국인군중적출현개솔，도선료20개위점，설계인물，이용등위기인특이성 PCR 화모세관전영기술구건추단저삼류유전질병적 PCR 검측체계。결과구건료포함20개돌변위점，능구동시검측유전성이롱、지중해빈혈、포도당-6-린산탈경매（G6PD）삼류유전질병적모세관전영복합확증실험체계。결론재법의학실험실개전검재 DNA 래원인적질병특정추단시가행적。통과진일보연구발전，해기술유망재형사안건정사중발휘작용。
Objective Genetic disease, usually controlled by pathogenic genes, occurs over mutation in the relevant genetic material. Theoretically, scientists can infer from the DNA typing whether a subject is prone to some kind of genetic diseases because of the regionality and/or inheritance of most these illnesses able to link the DNA donor with certain zone of the typed DNA. Therefore, the inference of unknown supplier of evidential substance, based on the information of some genetic diseases parsed with the relative DNA, may become an important research focus in forensic community due to the common fact that target suspects and/or any other clues are not easily exposed through the biologic samples collected from the scenes in criminal cases. Here, a simple and efficient method was tried to establish for the detection of certain pathogenic genes. Methods Allele specific PCR (ASPCR) was conducted in two aliquots of each separately subjected to normal and mutant amplification with the allele specific primers designed according to the sequenced gene, and followed by capillary electrophoresis for gene sequencing to get its genotype. Results A newly developed panel of 20 genes, synchronously detecting three kinds of genetic diseases based on allele specific PCR technique and capillary electrophoresis, were presented. The panel contained 11 disease genes of Genetic Deafness (one of the most common sensory disorders that affect communication), 6 genetic loci of Beta Mediterranean anemia (of high incidence in China’s southern parts such as Guangdong, Guangxi and Hong Kong) and 3 loci of Glucose-6-phosphate dehydrogenase (G6PD) deficiency (having its higher incidence in southern China, too). Conclusions The multiplex assay, performed with PCR and the capillary electrophoresis available at most forensic genetic laboratories, is very likely to be a convenient and cost-effective choice for criminal investigations.