CFTR mutation detection by multiplex heteroduplex (mHET) analysis on MDE gel.
نویسندگان
چکیده
منابع مشابه
Development of allele-specific multiplex PCR to determine the length of poly-T in intron 8 of CFTR
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation analysis has been implemented for Cystic Fibrosis (CF) carrier screening, and molecular diagnosis of CF and congenital bilateral absence of the vas deferens (CBAVD). Although poly-T allele analysis in intron 8 of CFTR is required when a patient is positive for R117H, it is not recommended for routine carrier screening. The...
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The detection of specific diseasecausing mutations in DNA is an important adjunct to successful genetic counseling in families with a history of genetic disorders and for prenatal diagnosis. Researchers performing routine mutation detection on large multi-exonic disease genes face a huge and laborious task, especially in the absence of regional clustering of mutations within the gene. Neurofibr...
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BACKGROUND Denaturing HPLC (DHPLC) is a semi-automated method for detecting unknown DNA sequence variants. The sensitivity of the method is dependent on the temperature at which the analysis is undertaken, the selection of which is dependent on operator experience. To circumvent this, software has been developed for predicting the optimal temperature for DHPLC analysis. We examined the utility ...
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Department of Human Genetics, Faculty of Medicine, University of Stellenbosch, Tygerberg, 7505, South Africa The ability to detect mutations in individuals and the subsequent DNA diagnosis of genetic diseases are becoming increasingly important for the researcher and diagnostician. Single-base substitutions (80-90%) can be detected by single-strand conformation polymorphism (SSCP) (1) or hetero...
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Background: Mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene can cause congenital bilateral absence of vas deferens. Yet, the spectrum and frequency of CFTR mutations in Indian males with congenital absence of vas deferens (CAVD) is unknown. Materials and Methods: We investigated 50 Indian males, diagnosed with unilateral or bilateral absence of vas deferens at t...
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ورودعنوان ژورنال:
- Methods in molecular medicine
دوره 70 شماره
صفحات -
تاریخ انتشار 2002