Optimization Of STR And Multiple PCR Technology For The Clinical Application Of Rapid Prenatal Diagnosis

Objective Selection of common chromosome short tandem repeat(STR), which is suitable for the Han population, and optimize the site amplification conditions, by fluorescence quantitative polymerase chain reaction(QF-PCR) for rapid prenatal diagnosis of fetal common chromosome aneuploidies.Methods The genetic polymorphism information content with STR markers locus in chromosome 13, 18, 21, X, Y was evaluated through 48 normal Han population samples. Selecte high genetic polymorphism of STR markers and optimize into a testing system and further evaluate the sensitivity and specificity of the detection system by 136 cases. Samples were also tested by karyotype analysis and the results of the two methods were compared.Results Selected 14 STR markers through heterozygosity test, were D13S258(0.88), D13S305(0.90), D13S634(0.92), D13S742(0.83), D18S535(0.81), D18S1002(0.69), D18S386(0.75), D18S391(0.77), D21S1435(0.75), D21S1412(0.94), D21S1446(0.58), D21S1414(0.85), DXS7132(0.77), DXY218(0.71), together with sex chromosome of qualitative and quantitative specificity STR markers of AMXY, SRY, TAF9 B to optimize the formation of an amplification system. The system was applied to 136 cases of amniotic fluid, umbilical cord blood and CVS samples. Among 38 cases that were found abnormal chromosome number by QF-PCR, included 17 cases of trisomy 21, 4 cases of trisomy 13, 12 cases of trisomy 18, 1 case of(47,XXX),2 cases of(45,XO),1 case of(47,XXY), 1 case of(47,XYY). The results of QF-PCR were the same as the results of the karyotype analysis.Conclusions This article studies selected 14 STR markers show higher genetic polymorphism in Han population, and qualitative and quantitative sex chromosome maekers constitute a QF- PCR detection system. QF-PCR technology can quick, accurate, economic, and efficient application of the rapid prenatal diagnosis of common chromosome aneuploidies in Han population.