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利用全基因组高密度 SNP 微阵列进行亲权分析。

Parentage analysis using genome-wide high-density SNP microarray.

机构信息

Xi'an Jiaotong University School of Basic Medical Sciences, Xi'an, Shaanxi 710061, PR China; Laboratory of Medical Genetics, Qinzhou Maternal and Child Health Care Hospital, Qinzhou, Guangxi 535099, PR China; Laboratory of Forensic, Judicial Authentication Institute of Qinzhou Jin Hai Wan, Qinzhou, Guangxi 535099, PR China; Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases, Qinzhou, Guangxi 535099, PR China.

出版信息

Gene. 2021 Jun 15;785:145605. doi: 10.1016/j.gene.2021.145605. Epub 2021 Mar 23.

Abstract

OBJECTIVE

Parentage analysis is a technology that uses genetic methods to verify or exclude relationships between individuals. STR technology is often used in parentage analysis. We received three sets of samples from three families. Each set of samples consisted of a male individual and a female individual. Their test requirements were meant to determine whether they were a paternity relationship, a sibling relationship, or grandparent-grandchild relationship. However, only one STR locus mismatch was detected in each group. Other family members to assist in testing could not be identified; therefore, other methods were needed to assist in judgment. Using high-density SNP microarrays, we analyzed the feasibility of its application in paternity analysis.

RESULTS

A total of 180 samples were tested, including 100 unrelated samples, and 74 samples from 30 families, and six samples from three families. The data were analyzed, grouped according to the chromosome of SNP, and the mismatching rate was counted. The total mismatching rate of SNP in unrelated individuals was 8-10 times higher than that of parent-child individuals. Individuals with a total mismatch rate of more than 5.3% were defined as individuals with no kinship, and the individuals with a total mismatch rate of less than 0.6% were defined as the individuals with a parent-child relationship.

CONCLUSIONS

Through the use of high-density gene chips for analysis, we also completed an auxiliary analysis of the kinship of the three families. The gene chip is a better method for auxiliary analysis of the kinship between individuals.

摘要

目的

亲权分析是一种利用遗传方法来验证或排除个体之间关系的技术。STR 技术常用于亲权分析。我们收到了三个家庭的三组样本。每组样本由一名男性个体和一名女性个体组成。他们的测试要求是确定他们是否存在亲子关系、兄弟姐妹关系或祖孙关系。然而,每组仅检测到一个 STR 基因座不匹配。无法确定其他协助测试的家庭成员;因此,需要其他方法来协助判断。我们使用高密度 SNP 微阵列分析了其在亲权分析中应用的可行性。

结果

共检测了 180 个样本,包括 100 个无关样本,30 个家庭的 74 个样本,以及 3 个家庭的 6 个样本。对数据进行分析,按 SNP 染色体分组,并计算不匹配率。无关个体 SNP 的总不匹配率比亲子个体高 8-10 倍。将总不匹配率超过 5.3%的个体定义为无亲缘关系个体,总不匹配率低于 0.6%的个体定义为亲子关系个体。

结论

通过使用高密度基因芯片进行分析,我们还完成了对三个家庭亲缘关系的辅助分析。基因芯片是分析个体间亲缘关系的一种较好方法。

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