Human SP-A locus: Allele frequencies and linkage disequilibrium between the two surfactant protein A genes
Human SP-A locus: Allele frequencies and linkage disequilibrium between the two surfactant protein A genes
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DOI：
10.1165/ajrcmb.15.4.8879183
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发表时间：
1996-10-01
影响因子：
6.4
通讯作者：
Deiter, G
中科院分区：
文献类型：
--
作者：
Floros, J;DiAngelo, S;Deiter, G
两个表面活性蛋白A（SP-A）基因和每个SP-A基因座的几个等位基因先前已被描述。在这份报告中，我们调查的潜在有用的SP-A位点作为遗传研究的标记。我们建立的条件，允许识别具有非常相似的序列的等位基因;我们还确定了每个SPA基因座的多态性程度：SP-A1基因座的杂合性和多态性信息含量（PIC）值分别为0.63和0.55，SP-A2基因座的杂合性和多态性信息含量（PIC）值分别为0.50和0.56。在这些研究中，我们发现了一个新的SP-A2等位基因，并表明SP-A1和SP-A2基因座处于连锁不平衡（P < 0.000001）。我们还确定了19的20个可能的单倍型在人口n = 239。在该群体中有9种单倍型达到统计学显著性水平（P < 0.01），在一个家系中证实了6A（2）/1A（0）和6A（4）/1A两种单倍型的分离。这些数据一起表明，两个SP-A基因座是足够的多态性，是良好的标记，用于遗传研究。此外，一个新的等位基因的发现表明，其他未知的SP-A等位基因尚未被发现。
Two surfactant protein A (SP-A) genes and several alleles for each SP-A locus have been previously described. In this report we investigate the potential usefulness of the SP-A loci as markers for genetic studies. We establish conditions that allow the identification of alleles with very similar sequences; We also determine the degree of polymorphism for each SP A locus: The heterozygosity and polymorphism information content (PIC) values for the SP-A1 locus are 0.63 and 0.55, respectively, and for the SP-A2 locus are 0.50 and 0.56. In the course of these studies, we identify one new SP-A2 allele and show that the SP-A1 and SP-A2 loci are in linkage disequilibrium (P < 0.000001). We also identify 19 of the 20 possible haplotypes in a population of n = 239. Nine of the observed haplotypes reach statistical significance (P < 0.01) in this population, and the segregation of two haplotypes (6A(2)/1A(0) and 6A(4)/1A) without recombination is verified in a family pedigree. These data together indicate that both SP-A loci are sufficiently polymorphic to be good markers for use in genetic studies. Furthermore, the finding of one novel allele suggests that additional unknown SP-A alleles are yet to be found.