Journal of Forensic Medicine 2016;32(5):371-377

doi:10.3969/j.issn.1004-5619.2016.05.013

Research Progress on Gene Alterations of Amelogenin Locus in Gender Identification

Jiangping HUANG ; Fan YANG ; Yanan LIU ; Kainan ZOU ; Yu CAO ; Dan WU ; Ronghua CHEN ; Yuan PING ; Huaigu ZHOU

Keywords

forensic genetics; amelogenin; review; gender identification; mutation

Country

China

Language

Chinese

Abstract

There are two kinds ofamelogeningene mutation, including mutation in primer-binding re-gion ofamelogeningene and micro deletion of Y chromosome encompassingamelogeningene, and the latter is more common. The mechanisms of mutation in primer-binding region ofamelogeningene is nu-cleotide point mutation and the mechanism of micro deletion of Y chromosome encompassingamelo-geningene maybe non-allelic homologous recombination or non-homologous end-joining. Among the population worldwide, there is a notably higher frequency ofamelogeningene mutations in Indian popu-lation, Sri Lanka population and Nepalese population which reside within the Indian subcontinent. Thoughamelogeningene mutations have little impact on fertility and phenotype, they might cause incor-rect result in gender identification. Using composite-amplification kit which including autosomal STR lo-cus,amelogeningene locus and multiple Y-STR locus, could avoid wrong gender identification caused byamelogeningene mutation.