Abstract:Objective Through chromosome aneuploidy analysis and analysis of a short tandem repeat on the Y-chromosome(Y-STR),a genetic analysis of an amniotic fluid specimen with chromosome 46,X,+mar was performed.Methods Quantitative fluorescence polymerase chain reaction(QF-PCR)was used to detect common chromosomal aneuploidies;the AGCU Y-STRs quantitative fluorescent multiplexing PCR amplification analysis system was used to detect 22 STR loci such as DYS391.Results The amniotic fluid specimen was detected double peaks with a peak height of 1∶1 or single peaks with a double peak height on the loci of chromosome 13,18,and 21.The peak height of STRs at the AMELY and XY3 loci was twice as high as that of the X-chromosome loci.The detection results of AGCU Y-STR quantitative fluorescent multiplexing PCR amplification analysis system showed that the peripheral blood of his father was detected a single peak at 22 Y-STR loci.Fetal amniotic fluid specimen was captured single peaks at five loci including DYS456,DYS458,DYS393,DYS19,and DYS522,and no amplified products were detected at the remaining 17 loci.At the above five loci,their genotypes were consistent with those of the father.Conclusion The ratio of sex chromosomes Y to X in amniotic fluid specimens is 2∶1.The Y-chromosome has partial deletions.The genotypes of five loci on the Y-chromosome are derived from the father.
龙若庭;林萃;陈淑霞. 一例胎儿微小额外标记染色体46,X,+mar羊水样本的遗传学检测分析[J]. 中国当代医药, 2021, 28(18): 134-136转140.
LONG Ruo-ting; LIN Cui ;CHEN Shu-xia. Genetic detection and analysis of a fetal small supernumerary marker chromosome 46,X,+mar amniotic fluid sample. 中国当代医药, 2021, 28(18): 134-136转140.
Liehr T.Chromothripsis detectable in small supernumerary marker chromosomes(sSMC)using fluorescence in situ hybridization(FISH)[J].Methods Mol Biol,2018,1769:79-84.