Study on forensic application of sequence variants in STR loci

STR位点序列变异的法医学应用研究

• 批准号: 09670435
• 负责人: NAGAI Atsushi
• 金额: $ 1.28万
• 依托单位: Gifu University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 1997
• 资助国家: 日本
• 起止时间: 1997 至 1998
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-09670435/
• 关键词: STR; HUMD21S11; HUMD11S554; DNA sequence; Sequence variant

A number of sequence variants exists in STR (short tandem repeat) loci, HUMD21S11 and HUMD11S554, which offer many advantages for forensic investigation. Therefore, it is necessary to analyze not only amplified fragment sizes but also DNA sequences for the identification of those alleles. The probability of personal identification will be raised by detection of the sequence variants.First, to clarify the existence of the sequence variants in both STR loci in Japanese population. we sequenced 13 kinds of alleles for HUMD21S11 and 47 for HUMD11S554, which we detected in a total of about 500 unrelated Japanese individuals using the AMPFLP (amplified fragment length polymorphism) method. Consequently, the sequence variants were found in 9 kinds of alleles for HUMD21S11 and 16 for HUMD11S554. According to the method of Adams (1993), all of the sequences in HUMD11S554 were classified into 9 types including types IA^2, LA^3, IA^4 and IB^3 which were newly found in the present study.Secondly, … More for HUMD11S554, we sequenced 31 kinds of alleles detected in a total of 110 unrelated Hungarian Caucasian individuals and compared the sequence data between Japanese and Hungarian populations. As a result, some of the sequence types were different between both populations. Much more samples from both populations should be analysed to clarify whether those different sequence types originate in racial difference.Thirdly, to select the efficient method for detection of sequence variants, we analysed the alleles in which sequence variants existed in both loci using the direct sequencing method, the PCR-SSCP (single strand conformation polymorphism) method and the CFLP (cleavage fragment length polymorphism) method. Consequently, the direct sequencing method and the PCR-SSCP method were the most efficient one for the heterozygotic alleles and the homozygotic alleles, respectively.Lastly, we performed the sequence analyses of both loci for DNA samples from the forensic materials. In consequence, the sequence variants were successfully detected. The results show that sequence analyses of both loci are useful method for forensic investigations. Less

短串联重复序列（short tandem repeat，STR）基因座HUMD 21 S11和HUMD 11 S554存在着大量的序列变异，为法医学调查提供了许多优势。因此，为了鉴定这些等位基因，不仅需要分析扩增片段大小，而且需要分析DNA序列。通过对序列变异的检测，可以提高个体识别的可能性。首先，明确日本人群中两个STR基因座上是否存在序列变异。我们对HUMD 21 S11的13种等位基因和HUMD 11 S554的47种等位基因进行了测序，我们使用AMPFLP（扩增片段长度多态性）方法在总共约500个无关的日本个体中检测到这些等位基因。因此，在HUMD 21 S11的9种等位基因和HUMD 11 S554的16种等位基因中发现了序列变异。根据亚当斯（1993）的方法，将HUMD 11 S554中的所有序列分为9种类型，其中IA ^2、LA ^3、IA ^4和IB ^3是本研究中新发现的类型。 ...更多信息 对于HUMD 11 S554，我们对在总共110个无关的匈牙利高加索个体中检测到的31种等位基因进行了测序，并比较了日本人和匈牙利人之间的序列数据。因此，两个群体之间的一些序列类型是不同的。第三，为了选择有效的序列变异检测方法，我们分别采用直接测序法、PCR-SSCP（single strand conformation polymorphism）法和CFLP（cleavage fragment length polymorphism）法对两个基因座存在序列变异的等位基因进行了分析。因此，直接测序法和PCR-SSCP法分别是检测杂合等位基因和纯合等位基因的最有效方法。最后，我们对法医学材料中的DNA样本进行了这两个基因座的序列分析。因此，成功检测到序列变体。结果表明，这两个基因座的序列分析是法医学调查的有用方法。少

项目成果

A.Nagai: "Allele frequencies and Sequence data of the STR locus D11S554 in a Japanese Population" Progress in Forensic Genetics. 7. 318-320 (1998)

A.Nagai：“日本人群中 STR 位点 D11S554 的等位基因频率和序列数据”法医遗传学进展。

Atsushi NAGAI: "Allele frequencies and sequence data of the STR locus D11S554 in a Japanese population." Progress in Forensic Genetics. 7. 318-320 (1998)

Atsushi NAGAI：“日本人群中 STR 位点 D11S554 的等位基因频率和序列数据。”

永井 淳: "日本人集団とHungarian Caucasian集団におけるD11S554アリルの塩基配列の解析" DNA多型. 7(印刷中).

Jun Nagai：“日本人群和匈牙利白种人人群中 D11S554 等位基因的碱基序列分析”DNA 多态性 7（出版中）。

Atsushi NAGAI: "Sequence analysis of D11S554 alleles in Japanese and Hungarian Caucasians. (in Japanese)" DNA Polymorphism. (in press).

Atsushi NAGAI：“日本和匈牙利白种人中 D11S554 等位基因的序列分析。（日语）”DNA 多态性。

Atsushi Nagai: "Allele frequencies and sequence data of the STR locus D11S554 in a Japanese population" Progress in Forensic Genetics. 7. 318-320 (1998)

Atsushi Nagai：“日本人群中 STR 位点 D11S554 的等位基因频率和序列数据”法医遗传学进展。