Complete DNA sequence variation in the apolipoprotein H (beta-glycoprotein I) gene and identification of informative SNPs.
Complete DNA sequence variation in the apolipoprotein H (beta-glycoprotein I) gene and identification of informative SNPs.
复制标题
载脂蛋白 H（β-糖蛋白 I）基因的完整 DNA 序列变异和信息性 SNP 的鉴定。
DOI：
10.1111/j.1529-8817.2005.00211.x
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发表时间：
2006
期刊：
影响因子：
--
通讯作者：
Kamboh,MIlyas
中科院分区：
文献类型：
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作者：
Chen,Qi;Kamboh,MIlyas
载脂蛋白H（APOH），也称为β2-糖蛋白I，是自身免疫性疾病中产生抗磷脂抗体的主要抗原。以前，我们已经检查了APOH基因编码区的DNA变异，并确定了常见蛋白质多态性的分子基础。在这里，我们报告的DNA序列变异的结果，在整个APOH基因，包括一个20.3 kb的区域，在46个白人美国人和48个非洲裔美国人的染色体。共鉴定出150个单核苷酸多态性（SNP）和1个三等位基因多态性，其中编码区8个，5′区14个，3′区2个;其余在内含子中观察到。在非裔美国人样本中观察到的SNP数量高于高加索人样本（130 vs. 84）。我们研究了SNP之间的种族特异性连锁不平衡模式，并为未来的关联研究确定了最大信息量的SNP。总的来说，我们已经确定了17个信息SNPs在高加索人和35个黑人。在APOH基因中发现全范围的序列变异和鉴定种族特异性信息SNP可能有助于快速评估这种变异与自身免疫性疾病的关系。
Apolipoprotein H (APOH), also known as β2‐glycoprotein I, is a major antigen for the production of antiphospholipid antibodies in autoimmune diseases. Previously we have examined DNA variation in the coding region of theAPOHgene and determined the molecular basis of the common protein polymorphism. Here we report the results of DNA sequence variation in the entireAPOHgene encompassing a 20.3 kb region in 46 Caucasian Americans and 48 African American chromosomes. A total of 150 single nucleotide polymorphisms (SNPs) and one tri‐allelic polymorphism were identified, including 8 in the coding region, 14 in the 5′‐region and 2 in the 3′‐ region; the remainder were observed in introns. The observed number of SNPs was higher in the African American sample than in the Caucasian sample (130 vs. 84). We examined the race‐specific linkage disequilibrium pattern among SNPs and identified maximally informative SNPs for future association studies. Altogether, we have identified 17 informative SNPs among Caucasians and 35 in blacks. The discovery of a full range of sequence variation and identification of race‐specific informative SNPs in theAPOHgene may facilitate the rapid evaluation of this variation in relation to autoimmune diseases.