Pantelidis P, Lagan A L, Davies J C, Welsh K I, du Bois R M
Clinical Genomics Group, Interstitial Lung Disease Unit, Department of Occupational and Environmental Medicine, London, UK.
Tissue Antigens. 2003 Apr;61(4):317-21. doi: 10.1034/j.1399-0039.2003.00038.x.
The genes coding for the human surfactant proteins (SP)-A and SP-D are located on chromosome 10q22-q23.1. SP-D is the product of a single gene whereas SP-A is the product of two highly homologous genes SP-A1 and SP-A2. Several single nucleotide polymorphisms (SNP) are present in the SP-A1, SP-A2 and SP-D genes. Because of this high degree of sequence homology between the SP-A1 and SP-A2 genes, current genetic analysis studies employ a nested PCR/radioactive hybridization or restriction fragment length polymorphism approach to initially isolate the genes and subsequently to detect the SNP in these isolates. In this manuscript, we report the primers and conditions of a sequence specific primer-PCR methodology that enables the identification of SP-A1, SP-A2 and SP-D gene allelic variants directly on genomic DNA material.
编码人表面活性蛋白（SP）-A和SP-D的基因位于10号染色体的q22-q23.1区域。SP-D是单个基因的产物，而SP-A是两个高度同源基因SP-A1和SP-A2的产物。SP-A1、SP-A2和SP-D基因中存在多个单核苷酸多态性（SNP）。由于SP-A1和SP-A2基因之间的序列同源性很高，目前的遗传分析研究采用巢式PCR/放射性杂交或限制性片段长度多态性方法，首先分离基因，随后检测这些分离物中的SNP。在本论文中，我们报告了一种序列特异性引物-PCR方法的引物和条件，该方法能够直接在基因组DNA材料上鉴定SP-A1、SP-A2和SP-D基因的等位基因变体。
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