Microhaplotype and Y-SNP/STR (MY): A novel MPS-based system for genotype pattern recognition in two-person DNA mixtures

Fan, Haoliang; Xie, Qiankun; Wang, Qianqian; Ru, Kai; Tan, Xiaohui; Ding, Jiuyang; Wang, Xiao; Huang, Jian; Wang, Zhuo; Li, Yanning; Wang, Xiaohan; He, Yitong; Gu, Cihang; Liu, Min; Ma, Shiwen; Wen, Shaoqing; Qiu, Pingming

doi:10.1016/j.fsigen.2022.102705

Cited by 7 publications

(2 citation statements)

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“…This is reflected in most studies of SNPs and of microhaplotypes (e.g., [ 15 , 16 ]). Whatever the cause, there is some potential counter effort, since many studies are ascertaining larger numbers of MHs using East Asian populations (e.g., [ 10 , 12 , 17 ]). Thus, more MHs with higher A e values in East Asian populations are becoming available.…”

Section: Individualizationmentioning

confidence: 99%

“…In addition to there being an increased number of published multi-SNP microhaplotypes, some recently published MH loci have high effective number of alleles (A e ), a statistic used as a measure of how polymorphic the loci are [ 9 ]. The best published microhaplotypes range from an A e around 3 to an A e as high as 10 and above: see, for example, Wu et al [ 10 ], Gandotra et al [ 11 ], and Fan et al [ 12 ]. This increase in highly informative microhaplotypes is ongoing and impacts all areas of forensic applications.…”

Section: Introductionmentioning

confidence: 99%

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State of the Art for Microhaplotypes

Kídd

Pakstis

2022

Genes

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In recent years, the number of publications on microhaplotypes has averaged more than a dozen papers annually. Many have contributed to a significant increase in the number of highly polymorphic microhaplotype loci. This increase allows microhaplotypes to be very informative in four main areas of forensic uses of DNA: individualization, ancestry inference, kinship analysis, and mixture deconvolution. The random match Probability (RMP) can be as small as 10−100 for a large panel of microhaplotypes. It is possible to measure the heterozygosity of an MH as the effective number of alleles (Ae). Ae > 7.5 exists for African populations and >4.5 exists for Native American populations for a smaller panel of two dozen selected microhaplotypes. Using STRUCTURE, at least 10 different ancestral clusters can be defined by microhaplotypes. The Ae for a locus is also identical to the Paternity Index (PI), the measure of how informative a locus will be in parentage testing. High Ae loci can also be useful in missing persons cases. Finally, high Ae microhaplotypes allow the near certainty of seeing multiple additional alleles in a mixture of two or more individuals in a DNA sample. In summary, a panel of higher Ae microhaplotypes can outperform the standard CODIS markers.

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