[Types and frequencies of variants in Amelogenin gene in Chinese population].
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.
Chen
Ai-ping
AP
Department of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, Guangdong, 510089 PR China.
Chen
Yong
Y
Wang
Hui-pin
HP
Chen
Wei-hong
WH
Chen
Hao
H
Chen
Li-xian
LX
Sun
Hong-yu
HY
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
D053523:Amelogenin; D004247:DNA