Cystic fibrosis genotyping by direct PCR analysis of Guthrie blood spots.
نویسندگان
چکیده
منابع مشابه
Cystic fibrosis genotyping by direct PCR analysis of Guthrie blood spots.
In the United States the most common cystic fibrosis (CF) alleles known are F508, G551D, G542X, R553X, and N1303K. These mutations comprise approximately 85% of U.S. CF alleles, and their detection along with analysis of XV-2C and KM-19 restriction fragment length polymorphisms (RFLPs) can enable the determination of CF status. To facilitate studies for determining CF carrier status, we develop...
متن کاملCystic Fibrosis Genotyping by Direct PCR Analysis of Guthrle Blood Spots
In the United States the most common cystic fibrosis (CF) alleles known are F$08, G$$1D, G$42X, R$S3X, and N1303K. These mutations comprise 8 5 % of U.S. CF alleles, and their detection along with analysis of XV-2C and KM-19 restriction fragment length polymorphisms (RFLPs) can enable the determination of CF status. To facilitate studies for determining CF carrier status, we developed methods t...
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OBJECTIVE To analyze the sequence difference between human A, B, and O alleles and establish the method of ABO genotyping by PCR direct sequencing. METHODS PCR-direct sequencing technique was used to analyze two regions of cDNA from A transferase gene, 233-433 and 660-788. RESULTS Two nucleotide substitutions at 258th and 297th were found in 233-433 region, and a nucleotide substitution at ...
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BACKGROUND The diversity of genetic mutations and polymorphisms calls for the development of practical detection methods capable of assessing more than one patient/one nucleotide position per analysis. METHODS We developed a new method, based on peptide mass signature genotyping (PMSG), for the detection of DNA mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. ...
متن کاملArchived Guthrie blood spots as a novel source for quantitative DNA methylation analysis.
Sodium bisulfite treatment followed by PCR and DNA sequencing is widely considered the gold standard for the analysis of DNA methylation patterns. However, this technique generally requires substantial quantities of genomic DNA as starting material and is often associated with degradation of DNA. Here, we assess the feasibility of performing bisulfite sequencing on DNA isolated from 3-mm diamet...
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ژورنال
عنوان ژورنال: Genome Research
سال: 1992
ISSN: 1088-9051
DOI: 10.1101/gr.2.2.154