Fluorescent PCR: A new technique for PGD of sex and single-gene defects

被引：38

作者：

Findlay, I

Quirke, P

Hall, J

Rutherford, A

机构：

[1] Institute of Epidemiology and Health Services Research, University of Leeds, Leeds LS2 9JT, 34, Hyde Terrace

[2] Academic Unit of Molecular Pathology, Algernon Firth Building, Leeds General Infirmary, Leeds LS1 3EX, Great George Street

[3] Associated Conception Unit, Leeds General Infirmary, Leeds LS1 3EX, Great George Street

来源：

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS | 1996年 / 13卷 / 02期

关键词：

single-cell polymerase chain reaction (PCR); fluorescent PCR; cystic fibrosis; sexing; preimplantation genetic diagnosis; microsatellites;

D O I：

10.1007/BF02072528

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Background: For single-cell diagnosis, particularly preimplantation genetic diagnosis to be successful four main criteria must be achieved: sensitivity, reliability, accuracy, and identification/elimination of contamination. Methods and Results: Fluorescent PCR achieves all four necessary criteria and, in addition, currently allows genes on tip to nine chromosomes to be simultaneously investigated. Fluorescent PCR has high sensitivity (similar to 1000X conventional analysis systems), high reliability (97%), and high accuracy (97%) rates for both sex and CF diagnosis in single somatic cells. The low detection threshold allows allelic dropout (one of the main causes of misdiagnosis) to be easily distinguished from PCR phenomena such as preferential amplification. High reliability (90%) and accuracy (97-100%) have been achieved in sex and CF diagnosis in human blastomeres. Fluorescent PCR can also be used to DNA fingerprint (STR profiling single cells to identify the source/origin of the cell and determine if contamination has occurred. Conclusion: Fluorescent PCR is therefore a suitable method for PGD.

引用

页码：96 / 103

页数：8

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