Allele specific

Ruano G, Kidd KK. Direct haplotyping of chromosomal segments from multiple heterozygotes via allele-specific PCR amplification. Nucleic Acids Res 1989 17[20] 8392. 

McLeod HL, Pritchard SC, Githang a J, Indalo A, Ameyaw MM, Powrie RH, Booth L, Collie-Duguid ESR. Ethnic differences in thiopurine methyltransferase pharmacogenetics evidence for allele specificity in Caucasian and Kenyan subjects. Pharmacogenetics 1999 9 773-776. 

Saiki, R. K., Chang, C., Levenson, C. H., Warren, T. C., Boehm, C. D. etal.. Diagnosis of sickle cell anemia and (3-thalassemia with enzymatically amplified DNA and non radioactive allele-specific oligonucleotide probes. N. Engl. J. Med. 319, 537-541 (1988). 

Considerable heterogeneity has been demonstrated with respect to average plasma Lp(a) levels in different ethnic groups. These differences cannot be entirely explained by differences in allele frequencies that exist between these groups [i.e., are not entirely due to allele-specific effects on Lp(a) concentrations] (M13, S3, S4). Interestingly, in the Sudanese population, Lp(a) levels are primarily (81%) determined by factors other than the size of the apo(a) allele, while in the Malay population, only 23% of the variation in Lp(a) levels could not be accounted for by size differences in the gene (S3). In Caucasians, it has previously been reported that 40-70% of the variance in Lp(a) levels can be... 

Allele-specific oligonucleotide Specific alleles of a gene Genetic counseling and DNA fingerprinting... 

Figure 1-7-8. Comparison of Probes Single-Gene Versus Allele-Specific Oligonucleotide (ASO)...

PCR-amplified DNA sequences tested for ( ) length difference (electrophoresis) and (2) sequence difference (allele-specific probes, ASOs)... 

This technique, described in Section I, involves the construction of short DNA sequences (oligonucleotides) of approximately 20 bp that exactly complement either the mutated sequence or the normal sequence (hence, allele-specific ). The labeled oligonucleotide is then used to probe DNA from the individual in question. This DNA may be placed, for example, on a dot blot. Successful hybridization of the ASO containing the mutation indicates presence of the mutation, whereas hybridization of the normal ASO indicates presence of the normal sequence. Hybridization of both probes would be seen in a heterozygote. Because a different probe must be constructed for each mutation, this technique is practical when a limited number of mutations... 

For additional discussion of allele-specific oligonucleotide (ASO) probes and dot blots, see Section I, Chapter 7 Genetic Testing. 

Sun, A., Ge, J., Siffert, W., and Frey, U. H. (2005) Quantification of allele-specific G-protein beta3 subunit mRNA transcripts in different human cells and tissues by Pyrosequencing. Eur. J. Hum. Genet. 13, 361-369. 

While the monitoring of infectious biological agents (bacteria and viruses) using DNA probe array technology is well known, many of the applications involve identification of allele-specific targets. Conversely, examining... 

Bishop AC, Shah K, Liu Y et al (1998) Design of allele-specific inhibitors to probe protein kinase signaling. Curr Biol 26 257-266... 

Van L, Nordgard SH, Lingjaerde OC et al (1928) Allele-specific copy number analysis of tumors. Proc Natl Acad Sci USA 107 16910-16915... 

Fig. 4. Illustration of the multiplex allele specific diagnostic assay. At the top of the panel, radioactive ohgonucleotide probes (indicated by stars) are selected by hybridization to amphcons from patient samples affixed to membrane filters. When a putative mutation-bearing allele hybridizes to a radioactive probe, it can be eluted from the filter and subjected to sequencing using chemical or radioactive dideoxy-terminator methods. This permits unequivocal identification of a large number of mutations at a high throughput.

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