New nomenclature for the human tissue kallikrein gene family.

compatible with heterozygosity. No individuals homozygous for the Cys282Tyr mutation were identified. To validate the method for detection of the homozygous mutant genotype , the assay was performed on a blood sample from a known homozygote. The NSS ratios for this individual, in two evaluations, were 9.1 and 7.4, within the predicted range. The results of PCR-RFLP testing were in complete agreement with those obtained with the cross-linking assay for all 101 samples. The cross-linking assay has several advantages. It allows detection of the Cys282Tyr mutation without the laborious steps of DNA purification, PCR, and RFLP analysis, and it eliminates problems of sample inhibition of polymerases and sample contamination by amplicons. An additional advantage is the large-scale simultaneous processing of DNA samples, using the microtiter plate format. With automated detection, the cross-linking assay can be finished within 4 h. Further work is needed to fully define the set of NSS ratio ranges that determine the three genotypes. Data from the blood sample assays showed wider variation among samples of the same genotype than was seen with the PCR samples. Presumably, this indicates that signal intensity is influenced by factors such as the efficiency of the overall sample preparation procedure and variation in blood volume and leukocyte concentration. Further sample data will allow us to set finer intervals for genotype assignment and to set " gray zone " values for repeat testing. Large-scale, presymptomatic screening of blood donors for the Cys282Tyr mutation could identify individuals at risk for HH, who are then candidates for prophylactic phlebotomy, which increases the life expectancy to that of the general population. If such a screening regimen was to be implemented, the tests needed to perform genotype analysis will have to be accurate, inexpensive, and autom-atable. The cross-linking assay used here is an efficient, simple, and rapid method of genotyping HFE mutations that, with automation, would be suitable for routine genetic analysis in a large-scale manner. novel MHC class I-like gene is mutated in patients with hereditary hemochro-hybridization assay for direct detection of factor V Leiden mutation. The human kallikrein gene family is important to the discipline of clinical chemistry because it contains genes that encode for valuable cancer biomarkers, including the best tumor marker available today, prostate-specific anti-gen (PSA). Despite reports of numerous kallikrein-like genes in the mouse (1), until 2–3 years ago, only three human kallikrein genes were recognized: pancreatic/ renal kallikrein (KLK1), human …