Allele identification

O Sullivan D, et al. On the interaction of promiscuous antigenic peptides with different DR alleles. Identification of common structural motifs. J Immunol 1991 147 2663. 

HLA allele identification has been used for transplantation, forensic, parentage, and chimerism testing. The latter three are of historical interest and are discussed in this section. 

A different experimental approach to SNP detection combines mass spectrometric detection with enzymatic extension of primers hybridized to immobilized DNA taiget aiiays. Tlie advantage of this combination is high specificity and high accmacy of allele identification. 

B, and -DR antigens are analyzed in transplants between siblings, whereas HLA-A, -B, -C, DRBl and DQBl alleles are studied in unrelated pairs. No more than one antigen mismatch is acceptable if the donor is a relative of the recipient, and no more than one allele mismatch in transplants from unrelated volunteers. In umbilical cord blood transplantation, units are selected by HLA-A and -B serologic or low-resolution DNA typing, whereas allele identification is required for matching at HLA-DRBl. Up to two HLA disparities are acceptable in this type of transplantation. 

For organic toxic chemicals and their degradation products the number of possibilities is very high. The environmental samples composition usually is very complicated. Unambiguous identification needs serial-pai allel strategy of analysis with many-stage crosschecking of data. 

BeckerK, HohoffC, SuhmittB, Christen HJ, NeubauerBA, Sandrieser T, Becker CM (2006) Identification of the microdeletion breakpoint in a GLRA1 null allele of Turkish hyperekplexia patients. Hum Mutat 27 1061-1062... 

Analysis in diverse lines can facilitate identification of useful alleles that control expression of enzymes upstream of the carotenoid pathway, a feature that would not be evident from conventional end-product screening of breeding lines. Moreover, this characterization sets the stage for marker-assisted selection of superior endogenous alleles and facilitates selection of introduced transgenes that may be necessary to supplement the genotypic contribution required for a particular plant chemical outcome. 

Studies have led to the identification of 14 alleles associated with PFK deficiency. Eight missense mutations, one nonsense mutation, one frameshift muta-... 

Tirona, R. G., Leake, B. F., Merino, G., Kim, R. B., Polymorphisms in OATP-C identification of multiple allelic variants associated with altered transport activity among European-and African-Americans, J. Bid. Chem. 2001, 276, 35669-35675. 

S, Papiha SS, Dai R, et al. The human peroxisome proliferator-activated receptor alpha gene identification and functional characterization of two natural allelic variants. Pharmacogenetics 2000 10 321-333. 

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