1991
DOI: 10.1073/pnas.88.4.1143
|View full text |Cite
|
Sign up to set email alerts
|

Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes.

Abstract: In this report, we describe an approach to detect the presence of abnormal alleles in those genetic diseases in which frequency of occurrence of the same mutation is high (e.g., cystic fibrosis and sickle cell disease), and in others in which multiple mutations cause the disease and the sequence variation in an affected member of a given family is known (e.g., hemophilia B). Initially, from each subject, the DNA fragment containing the putative mutation site is amplified by the polymerase chain reaction. For e… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
2

Citation Types

1
77
0
1

Year Published

1992
1992
2007
2007

Publication Types

Select...
8
1

Relationship

0
9

Authors

Journals

citations
Cited by 153 publications
(79 citation statements)
references
References 40 publications
1
77
0
1
Order By: Relevance
“…Allele-specific mutation/polymorphism detection methods include direct DNA sequence analysis, 98 reverse dot-blot with allele-specific oligonucleotide hybridization, 99 allele-specific PCR amplification, 100 oligonucleotide ligation amplification (OLA), 101 artificial introduction of restriction sites, 102 ligase chain reaction 103 and DNA minisequence analysis. [104][105][106] PCR-OLA has been applied to DNA diagnostics, 107 genetic mapping using biallelic markers 108 and YAC library screening. 109 A variation on PCR-OLA to increase sample throughput makes use of sequencecoded separation.…”
Section: Non Microarray-based Parallel Mutation Detection Methodsmentioning
confidence: 99%
See 1 more Smart Citation
“…Allele-specific mutation/polymorphism detection methods include direct DNA sequence analysis, 98 reverse dot-blot with allele-specific oligonucleotide hybridization, 99 allele-specific PCR amplification, 100 oligonucleotide ligation amplification (OLA), 101 artificial introduction of restriction sites, 102 ligase chain reaction 103 and DNA minisequence analysis. [104][105][106] PCR-OLA has been applied to DNA diagnostics, 107 genetic mapping using biallelic markers 108 and YAC library screening. 109 A variation on PCR-OLA to increase sample throughput makes use of sequencecoded separation.…”
Section: Non Microarray-based Parallel Mutation Detection Methodsmentioning
confidence: 99%
“…110,111 Limited primer-extension techniques, primer-guided nucleotide incorporation, single-nucleotide primer extension (SNPE) or solid-phase minisequencing were developed previously to detect point mutations by single-base extension of the primer at the site of the mutation. [104][105][106] These procedures use a primer designed to hybridize just 5' of the nucleotide to be tested. The primer is extended by a single dyelabeled dideoxynucleotide, thereby indicating the identity of the target nucleotide in the template.…”
Section: Non Microarray-based Parallel Mutation Detection Methodsmentioning
confidence: 99%
“…Detection of promoter hypermethylation of cancer-related genes may be useful for cancer diagnosis or the detection of recurrence [3,4] . At present, several molecular biology methods are routinely used to determine the methylation status of a CpG island, such as Southern blot [5] , bisulfite genomic DNA sequencing [6] , restriction enzyme-PCR [7] , methylation-specific PCR (MSP) [8] , methylation-sensitive single nucleotide primer extension (MSSNuPE) [9] , electrochemistry [10] , etc. Among these, bisulfite nucleotide sequencing is a standard technique for detailed mapping of methylated cytosine residues within a gene promoter.…”
Section: Introductionmentioning
confidence: 99%
“…Based on the SNP, the relative expression levels have been assessed by several methods including RNase Protection Assay (Winter et al 1985) and Single Nucleotide Primer Extension assayed by radioactive nucleotide incorporation (SNuPE) (Kuppuswamy et al 1991), or by mass spectrophotometry (rcPCR) (Knight et al 2003). These methods are all technically challenging and, more importantly, limited in their ability to precisely quantitate variations in allelic expression.…”
mentioning
confidence: 99%