联合应用STR与A/C连锁分析进行PKU的产前基因诊断

Application of STR and A/C lickage analysis in PKU prenatal diagnosis.

目的：对经典ＰＫＵ快速、高效易推广的产前基因诊断方法进行探讨。方法：用ＳＴＲ－Ａｍｐ－ＦＬＰ和ＰＣＲ－ＳＳＣＰ对云南１３个ＰＫＵ家系的ＰＡＨ基因内ＳＴＲ与Ａ／Ｃ位点进行连锁分析。结果：检出２２４２５２ｂｐ的ＳＴＲ８个等位片段，ＰＩＣ为０６９８、杂合率是５７６９％。用ＳＴＲ和ＳＴＲ加Ａ／Ｃ的１００％基因诊断率是４６１５％和６１５４％，且ＳＴＲ加Ａ／Ｃ对所有家系均能提供信息。完成１例风险胎儿的产前诊断和２例回顾性的基因诊断。结论：以ＳＴＲ－Ａｍｐ－ＦＬＰ为主要手段、辅以Ａ／Ｃ位点分析，是一简便、快速易于在基层医院推广的ＰＫＵ产前诊断方法。

Objective:To explor a method that is an effcetive,simple and spread available in classical PKU gene diagnosis.Method:STR and A/C sites in phenylalanine hydroxylase gene were analysed in 13 PKU families in Yunnan by STRAmpFLP and PCRSSCP.Results:8 alleles from 224bp to 252bp were identified in STR sites.100% gene diagnosis rate are 46.15% and 61.54% by STR and STR in combination with A/C,respectively.STR plus A/C can offer information for all families.The prenatal diagnosis of one fetus at risk and two retrospective gene diagnosis were performed.Conclusions:It is and effective,simple and available spread method in basic level hospitals that STRAmpFLP was used in main procedure with assist A/C site analysis.