Raha-Chowdhury R, Bowen D J, Worwood M
Department of Haematology, University of Wales College of Medicine, Cardiff, UK.
Hum Genet. 1996 Feb;97(2):228-31. doi: 10.1007/BF02265271.
The 5' untranslated region of HLA-F contains a polypurine tract comprising repeats of tri- and hexa-nucleotide motifs. We have recently demonstrated that this polypurine tract is highly polymorphic by using the polymerase chain reaction. Here, we demonstrate that some of the alleles can be explained by a deletion of approximately 100 bp DNA and show that alleles of this novel, highly polymorphic locus are as strongly associated with haemochromatosis as HLA-A3 or D6S105-8. The observed frequency of heterozygosity at HLA-RF is extremely high (95%) and this locus has been found to be informative in pedigrees that are non-informative at HLA-A and D6S105. We also show an example of replication slippage at HLA-F in one pedigree.
HLA - F基因的5'非翻译区包含一个多聚嘌呤序列，该序列由三核苷酸和六核苷酸基序的重复序列组成。我们最近通过聚合酶链反应证明了这个多聚嘌呤序列具有高度多态性。在此，我们证明一些等位基因可由大约100 bp DNA的缺失来解释，并表明这个新的高度多态性位点的等位基因与血色素沉着症的关联程度与HLA - A3或D6S105 - 8一样强。在HLA - RF处观察到的杂合子频率极高（95%），并且已发现该位点在HLA - A和D6S105无信息的家系中具有信息价值。我们还展示了一个家系中HLA - F发生复制滑移的例子。
