title: Deletion mapping of the regions with AMELY from two Chinese males.
abstract: The amelogenin (AMEL) is widely used in many multiplex PCR kits for gender determination. However, the null of amelogenin Y (AMELY) can result in the incorrect genotyping of male samples as females. In this study, we report the deletion of AMELY in two cases with a deletion frequency of 0.019% (2/10526) in our laboratory. The deletion region with AMELY was mapped by using other twelve loci, which shows the class I deletion pattern. Further, the Y chromosome short tandem repeat (Y-STR) typing shows that these two cases share the same haplotype with other two cases from previous reports. The haplogroup of the two cases was predicted as O3 haplogroup with a 100% probability. Altogether, this study will provide evidence to further demonstrate the deletion of AMELY in Chinese population.
authors.affiliation: Department of Forensic Medicine, Shanghai Medical College of Fudan University, Shanghai, 200032, China. Electronic address: jhxie@fudan.edu.cn.
authors.forename: Jianhui
authors.initials: J
authors.lastname: Xie
authors.affiliation: Department of Forensic Medicine, Shanghai Medical College of Fudan University, Shanghai, 200032, China.
authors.forename: Chengchen
authors.initials: C
authors.lastname: Shao
authors.affiliation: Department of Forensic Medicine, Shanghai Medical College of Fudan University, Shanghai, 200032, China.
authors.forename: Hongmei
authors.initials: H
authors.lastname: Xu
authors.affiliation: Department of Forensic Medicine, Shanghai Medical College of Fudan University, Shanghai, 200032, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Zhu
authors.affiliation: Department of Forensic Medicine, Shanghai Medical College of Fudan University, Shanghai, 200032, China.
authors.forename: Zhiping
authors.initials: Z
authors.lastname: Liu
authors.affiliation: Department of Forensic Medicine, Shanghai Medical College of Fudan University, Shanghai, 200032, China.
authors.forename: Qiqun
authors.initials: Q
authors.lastname: Tang
authors.affiliation: Department of Forensic Medicine, Shanghai Medical College of Fudan University, Shanghai, 200032, China. Electronic address: zhouyq@shmu.edu.cn.
authors.forename: Yueqin
authors.initials: Y
authors.lastname: Zhou
mesh_terms: D053523:Amelogenin / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002681:China; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D060005:Genotyping Techniques / Q000379:methods; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D010334:Paternity; D016133:Polymerase Chain Reaction; D012732:Sex Determination Analysis / Q000379:methods
chemical_list: C507202:AMELY protein, human; D053523:Amelogenin
keywords: AMEL; Chinese population; DYS458; Deletion; Haplogroup