Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations

被引：29
作者：
Axton, RA
Hanson, IM
Love, J
Seawright, A
Prosser, J
vanHeyningen, V
机构：
[1] Human Genetics Unit, Medical Research Council, Western General Hospital, Edinburgh, EH4 2XU, Crewe Road
来源：
MOLECULAR AND CELLULAR PROBES | 1997年 / 11卷 / 04期
基金：
英国医学研究理事会;
关键词：
combined SSCP/heteroduplex analysis; PAX6 mutation screening; aniridia;
D O I：
10.1006/mcpr.1997.0117
中图分类号：
Q5 [生物化学];
学科分类号：
071010 ; 081704 ;
摘要：
We demonstrate the use of combined SSCP and heteroduplex analysis in the detection of PAX6 mutations using non-radioactive silver staining. A panel of aniridia patients was screened by this approach and we show that a greater number of mutations was detected than would have been found by running each technique alone. Six previously unreported aniridia mutations in PAX6 are also described. (C) 1997 Academic Press Limited.
引用
收藏
页码：287 / 292
页数：6
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