Department of Forensic Sciences, The George Washington University, 2100 Foxhall Road NW, Washington, DC, 20007, United States.
Yale University School of Medicine, Department of Genetics, 333 Cedar Street, New Haven, CT, 06520, United States.
Forensic Sci Int Genet. 2019 Jan;38:54-69. doi: 10.1016/j.fsigen.2018.09.009. Epub 2018 Oct 1.
Microhaplotype loci (microhaps, MHs) are a novel type of molecular marker of less than 300 nucleotides, defined by two or more closely linked SNPs associated in multiple allelic combinations. The value of these markers is enhanced by massively parallel sequencing (MPS), which allows the sequencing of both parental haplotypes at each of the many multiplexed loci. This review describes the features of these multi-SNP markers and documents their value in forensic genetics, focusing on individualization, biogeographic ancestry inference, and mixture deconvolution. Foreseeable applications also include missing person identification, relationship testing, and medical diagnostic applications. The technique is not restricted to humans.
微单倍型（microhap，MH）是一种新型的分子标记物，其长度小于 300 个核苷酸，由两个或更多紧密连锁的 SNP 定义，这些 SNP 以多种等位基因组合相关联。这些标记物的价值通过大规模平行测序（MPS）得到了增强，MPS 允许对每个多重化的位点的两个亲本单倍型进行测序。本综述描述了这些多 SNP 标记物的特征，并记录了它们在法医学遗传学中的价值，重点是个体识别、生物地理祖籍推断和混合物解析。可预见的应用还包括失踪人员识别、关系测试和医学诊断应用。该技术不仅限于人类。
