Standardized genotyping of HLA STR by CE as surrogate for HLA class I and II markers and for identification of HLA identical siblings.

Linkage disequilibria (LD) between alleles and haplotypes of human leucocyte antigen, locus A (HLA) and STR loci located in the human major histocompatibility complex were analyzed in order to investigate whether or not HLA alleles and haplotypes are predictable by alleles or haplotypes of HLA STRs. Standardized genotyping of eight STR loci (D6S2972, D6S2906, D6S2691, D6S2678, D6S2792, D6S2789, D6S273, and DQIV) was performed by CE on 600 individuals from 150 Austrian Caucasoid families with known HLA-A,-B,-C and -DRB1 typing. From those, 576 full haplotypes of four HLA and eight STR loci were obtained.

Sequence-based definition of eight short tandem repeat loci located within the HLA-region in an Austrian population.

Sequenced allelic ladders are a prerequisite for reliable genotyping of short tandem repeat (STR) polymorphisms and consistent results across instrument platforms. For eight STR-loci located on the short arm of chromosome 6 (6p21.3), a sequenced based nomenclature was established according to international recommendations.

Tetragametic chimerism detected in a healthy woman with mixed-field agglutination reactions in ABO blood grouping.

Background: The case of a healthy woman with serologic blood group AB and her biologic father showing blood group O was investigated. Further analysis, including blood, buccal swabs, and nail clippings, revealed a tetragametic chimerism.

Study Design And Methods: Blood grouping was performed with standard gel centrifugation test cards, ABO genotyping by sequence-specific primers (SSPs) and sequence-based typing, and HLA Class I and II typing by standard NIH cytotoxicity testing and SSP.

Transcript level of erythroid differentiation-related factor, a candidate surrogate marker for transmissible spongiform encephalopathy diseases in blood, shows a broad range of variation in healthy individuals.

Background: In 2001, it was demonstrated that the expression of the erythroid differentiation-related factor (EDRF) is reduced in lymphatic tissues of rodents and cattle as well as in whole blood of sheep that suffer from transmissible spongiform encephalopathy.

Study Design And Methods: To determine whether the normal range of EDRF expression varies in healthy individuals, mRNA levels were measured in whole blood samples from 106 healthy blood donors by quantitative real-time RT-PCR. Furthermore, the correlations of transcript levels with individual physical characteristics were analyzed.