Guttridge M G, Thompson J, Worwood M, Darke C
Regional Tissue Typing Laboratory, Welsh Blood Service, Pontyclun, UK.
Vox Sang. 1998;75(3):253-6.
The purpose of this study was to establish a rapid method suitable for large-scale population screening, including blood donors, for the detection of two genetic mutations at codons 63 and 282 on the HFE gene that are associated with haemochromatosis.
A method using the polymerase chain reaction with sequence-specific primers (PCR-SSP) was designed and tested using a panel of 185 individuals previously typed for HFE mutations by PCR-RFLP.
The PCR-SSP method detected the two mutations showing complete agreement with the genotypes obtained by PCR-RFLP. Three HFE alleles, termed HFE-1, -2, and -3, were identified.
This PCR-SSP method allows efficient HFE genotyping for large numbers of individuals.
本研究的目的是建立一种适用于大规模人群筛查（包括献血者）的快速方法，以检测与血色素沉着症相关的HFE基因第63和282密码子处的两种基因突变。
设计了一种使用序列特异性引物的聚合酶链反应（PCR-SSP）方法，并使用一组先前通过PCR-RFLP对HFE突变进行分型的185名个体进行了测试。
PCR-SSP方法检测到这两种突变，与通过PCR-RFLP获得的基因型完全一致。鉴定出三个HFE等位基因，分别称为HFE-1、-2和-3。
这种PCR-SSP方法能够对大量个体进行高效的HFE基因分型。
