Analysis of Abnormal Genotyping at Amelogenin Locus in Male Individuals

doi:10.12116/j.issn.1004-5619.2024.540305

Abstract

Abstract:

Objective To investigate the abnormal genotyping and its causes at the Amelogenin locus in male samples. Methods A total of 23 647 blood samples from unrelated male individuals were analyzed using the STRtyper-21G kit, and 38 samples with abnormal Amelogenin locus were identified. These samples were retested and classified using GlobalFiler^TM and PowerPlex^® 21 kits. Additional sex chromosome STR genotyping and Sanger sequencing were performed for samples with abnormal genotypes. Sequence-tagged site （STS） testing was conducted for samples suspected of Amel-Y microdeletions. Results Among above 38 samples, except for Amelogenin locus, all samples showed normal male sex chromosome STR typing. The detection rate of abnormal genotyping was 0.161% （38/23 647）, which were categorized into three major types. Among them, 30 cases had Amel-X deletion: 5 cases had C→T mutation at position 372; 2 cases had G→A mutation at position 293; 23 cases had A→G mutation at position 304. There were 2 cases of Amel-Y deletion: 1 case of insertion mutation of TTAA at position 387, and 1 case of microdeletion of the short arm containing Amel-Y. Six cases of abnormal Amel-X/Y peak ratios were identified: using the STRtyper-21G kit, the abnormalities appeared as low Amel-X with absent Amel-Y, normal Amel-X with absent Amel-Y, normal Amel-X with low Amel-Y, respectively. However, retesting with GlobalFiler^TM and PowerPlex^® 21 kits consistently showed normal Amel-X with low Amel-Y. The GlobalFiler^TM profiling showed that the peak heights of Amel-Y were comparable to those of the Y-InDel and DYS391 markers, and no abnormalities were detected by sequencing. Conclusion Amelogenin genotyping abnormalities occur at a measurable frequency in the population and are mainly associated with mutations, which can be categorized as Amel-X deletion, Amel-Y deletion, and Amel-X/Y peak ratio abnormality. Regarding normal Amel-X peaks with lower Amel-Y peaks, the possibility of mosaic loss of chromosome Y （mLOY） in samples, which is commonly observed in elderly males, should be considered and given attention.

Key words: forensic genetics, gene mutation, Amelogenin locus, Amel-X deletion, Amel-Y deletion, abnormal ratio of Amel-X/Y peak

CLC Number:

Zhenping LIU, Zhihua YE, Jijun TONG, Jiahui SONG, Weiwei WU, Honglei HAO, Yanfang FU, Xiandun ZHAI. Analysis of Abnormal Genotyping at Amelogenin Locus in Male Individuals[J]. Journal of Forensic Medicine, 2026, 42(2): 121-129.

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http://www.fyxzz.cn/EN/Y2026/V42/I2/121

Figures/Tables 5

References 32

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类别	类型	编号	例数	STRtyper-21G	GlobalFiler^TM	PowerPlex^® 21
Amel-X缺失	类型1	1~5	5	缺失	正常	正常
	类型2	8~9	2	缺失	Amel-X峰偏低	缺失
	类型3	16~38	23	缺失	缺失	缺失
Amel-Y缺失	类型4	6	1	缺失	缺失	正常
Amel-Y缺失	类型5	7	1	缺失	缺失	缺失
Amel-X/Y峰高比异常	类型6	10~13	4	Amel-X峰偏低、 Amel-Y峰缺失	Amel-X峰正常、 Amel-Y峰偏低	Amel-X峰正常、 Amel-Y峰偏低
	类型7	14	1	Amel-X峰正常、 Amel-Y峰偏低	Amel-X峰正常、 Amel-Y峰偏低	Amel-X峰正常、 Amel-Y峰偏低
	类型8	15	1	Amel-X峰正常、 Amel-Y峰缺失	Amel-X峰正常、 Amel-Y峰偏低	Amel-X峰正常、 Amel-Y峰偏低

类别	类型	编号	例数	STRtyper-21G	GlobalFiler^TM	PowerPlex^® 21
Amel-X缺失	类型1	1~5	5	缺失	正常	正常
	类型2	8~9	2	缺失	Amel-X峰偏低	缺失
	类型3	16~38	23	缺失	缺失	缺失
Amel-Y缺失	类型4	6	1	缺失	缺失	正常
Amel-Y缺失	类型5	7	1	缺失	缺失	缺失
Amel-X/Y峰高比异常	类型6	10~13	4	Amel-X峰偏低、 Amel-Y峰缺失	Amel-X峰正常、 Amel-Y峰偏低	Amel-X峰正常、 Amel-Y峰偏低
	类型7	14	1	Amel-X峰正常、 Amel-Y峰偏低	Amel-X峰正常、 Amel-Y峰偏低	Amel-X峰正常、 Amel-Y峰偏低
	类型8	15	1	Amel-X峰正常、 Amel-Y峰缺失	Amel-X峰正常、 Amel-Y峰偏低	Amel-X峰正常、 Amel-Y峰偏低