| 联合应用STR与A／C连锁分析进行PKU的产前基因诊断 |
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| 引用本文： | 朱月春,汪宁.联合应用STR与A／C连锁分析进行PKU的产前基因诊断[J].中国优生与遗传杂志,1999,7(3):21-22,12. |
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| 作者姓名： | 朱月春 汪宁 |
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| 作者单位： | 昆明医学院生化教研室 |
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| 基金项目： | 云南省应用基础研究基金 |
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| 摘 要： | 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ＰＫＵ家系的ＰＡＨ基因内与Ａ／Ｃ位点进行连锁分析。结果：检出２４２－２５２ｂｐ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加入Ａ／Ｃ对所有家系均能提供信息。完成１例
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| 关 键 词： | 苯丙酮尿症 PCR 苯丙氨酸羟化酶 产前诊断 |
Application of STR and A/C lickage analysis in PKU prenatal diagnosis. |
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| Zhu Yuechun,Wangning..Application of STR and A/C lickage analysis in PKU prenatal diagnosis.[J].Chinese Journal of Birth Health & Heredity,1999,7(3):21-22,12. |
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| Authors: | Zhu Yuechun Wangning |
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| Abstract: | 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. |
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| Keywords: | Phenylketonuria Polymerase chain reaction Phenylanine hydroxylas gene Prenatal diagnosis (Original artical on page 21) |
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