Y chromosome interstitial deletion induced Y-STR allele dropout in AMELY-negative individuals.
Short tandem repeat (STR) multiplexes with the amelogenin (AMEL) gene as a gender marker have been used as a routine tool of forensic DNA analysis. It has been reported that AMEL-based gender detection could misidentify a known male as a female due to the dropout of amelogenin Y (AMELY) allele. Other gender markers, such as Y-chromosomal short tandem repeat (Y-STR), may be a substitution of AMEL and help the sex determination. In current study, employing AmpFlSTR® Sinofiler and AmpFlSTR® Y-filer™ PCR Amplification kit, 18 AMELY-negative males were identified. Accordingly, the incidence of the AMELY dropout was 0.227 ‰ (18/79,304) in Chinese population. Sequencing of AMELY allele and analyzing of azoospermia factors region suggested that 3 out of 18 misidentifications were induced by mutations in the primer-binding region of the AMELY, while other 15 sex misidentifications were results of Y chromosome microdeletions with variant lengths. Moreover, variant combination patterns of AMELY dropout and Y-STRs deletions were also observed. Our data suggested that Y-STR locus dropout may indicate more problems, especially in the mixed sample's interpretation. Results of haplogroup prediction showed that seven AMELY dropouts combined with variant Y-STR deletions can be classified as the J2 subdivision, suggesting that some of these Y chromosomes might descend from a common ancestor.
Department of Forensic Genetics, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu, 610041, Sichuan, China.
Yan
Y
Ma
Jin-Zhi
JZ
Kuang
Ji
J
Zhang
Gui-Min
GM
Wang
Yu-Jian
YJ
Wang
Wei-Min
WM
Jin
Yi-Ping
YP
Hou
D000483:Alleles; D053523:Amelogenin / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D053713:Azoospermia / Q000235:genetics; D002681:China; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics; D003431:Cross-Cultural Comparison; D004252:DNA Mutational Analysis; D053803:Forensic Genetics / Q000379:methods; D018703:Founder Effect; D005787:Gene Frequency / Q000235:genetics; D005828:Genetics, Population; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007248:Infertility, Male; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D060885:Multiplex Polymerase Chain Reaction; D021141:Nucleic Acid Amplification Techniques; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000235:genetics*; D019849:Sex Determination Processes / Q000235:genetics
C507202:AMELY protein, human; D053523:Amelogenin