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A novel mutation at the AMEL primer binding region on the Y chromosome in AMELY negative male.
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- Author(s): Takayama, Tomohiro
- Source:
International Journal of Legal Medicine; Mar2022, Vol. 136 Issue 2, p519-526, 8p- Subject Terms:
- Source:
- Additional Information
- Abstract: Gender identification in forensic DNA typing is an important tool for criminal investigation as well as STR typing. Most methods are based on a size difference of amelogenin X and Y (AMELX and AMELY). There have been some reports that the method by amelogenin (AMEL) incorrectly typed some males as females because the AMELY allele is not detected. AMELY allele dropout is often caused by deletions encompassing AMELY on Yp11.2 and accompanied with Y-STR allele dropout (especially DYS458). However, an unusual deletion was found in our laboratory. The AMELY allele could be recovered by using another commercial kit and alternative AMEL primer sets, and the Y-STR markers resulted in a complete profile. Sequencing results showed that there was an 8 bp deletion in AMELY at the position corresponding to 41–48 bp downstream from the 3′ end of the 6 bp deletion site in AMELX. This is considered a novel mutation at a primer binding region. [ABSTRACT FROM AUTHOR]
- Abstract: Copyright of International Journal of Legal Medicine is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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