Allelic dropout of amelogenin gene on X chromosome
- VernacularTitle:X染色体Amelogenin等位基因缺失的研究
- Author:
Yong CHEN
;
Hongyu SUN
;
Aiping CHEN
;
Weihong CHEN
;
Shuwen HE
- Publication Type:Journal Article
- Keywords:
X chromosome;
Dental enflmel proteins;
Loss of heterozygosity;
Mutation
- From:
Chinese Journal of Laboratory Medicine
2008;31(4):446-449
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the mechanism that cause allelic dropout of amelogenin gene on X chromosome(Amel-X)when using routine Sullivan106/112 bp primer set in sex identification and discuss its influence on the forensic sex identification and the clinical diagnosis.Methods Amel-X dropout was validated with Sullivan212/218 bp and Haas-Rochholz80/83 bp primer sets.Amplification of amelogenin gene was used to analyze dropout of the Amex-X followed by sequencin.Results Sullivan212/218 bp and Hgas-Rochholz80/83 bp primer sets could be used to identify gender correctly.Three types of point mntation were observed in the forward primer binding region of the Sullivan106/112 bp primer set by sequencing in the lost Amel-X,including single point mutation at 2nd and 13th sites,respectively,and heterozygous multiple point mutations at 2nd and 13th sites.Conclusions Point mutation in the primer binding region may result in a failure to amplify amelogenin allele and thus lead to a null allele.This finding should be mid attention to because it may interfere with the sex identification.
