title: [Types and frequencies of variants in Amelogenin gene in Chinese population].
abstract: OBJECTIVE
  To investigate the types and frequencies of variants in Amelogenin gene in Chinese population and to explore the mutations' influence to the sex test.
  
  
  METHODS
  The Amelogenin gene of 8850 unrelated Chinese individuals was typed with PowerPlex 16 system. The samples with abnormal typing results were calculated directly, validated with different primer sets, Y-STR typing and sequencing.
  
  
  RESULTS
  Two samples with X chromosomal Amelogenin (AMELX) allelic dropout and 2 samples with Y chromosomal Amelogenin (AMELY) allelic dropout were observed in male individuals, the total rate of mutation was 0.045% and the rate in the male was 0.085%. Two types of point mutation which may result in null allele were observed in the primer binding region of the plostq AMELX alleles, and the mutation rate in the male was 0.042%. The mutation rate of AMELY allele was also 0.042%. One sample failed to amplify 10 Y-STR loci out of 12 loci, which could be speculated that large interstitial deletion of the Y chromosome encompassing the AMELY and other Y-STR loci occurred.
  
  
  CONCLUSIONS
  AMELX or AMELY allelic dropout may occur due to the mutation of Amelogenin gene, which may interfere with the sex test and induce wrong gender identification.
authors: Department of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, Guangdong, 510089 PR China.
authors: Ai-ping
authors: AP
authors: Chen
authors: Yong
authors: Y
authors: Chen
authors: Hui-pin
authors: HP
authors: Wang
authors: Wei-hong
authors: WH
authors: Chen
authors: Hao
authors: H
authors: Chen
authors: Li-xian
authors: LX
authors: Chen
authors: Hong-yu
authors: HY
authors: Sun
mesh_terms: D000483:Alleles; D053523:Amelogenin / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005787:Gene Frequency; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D044382:Population Groups / Q000235:genetics
chemical_list: D053523:Amelogenin; D004247:DNA