M Bono, A Cases, J Oriola, J Calls, A Torras, F Rivera
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引用次数: 0
摘要
α 2a -肾上腺素能受体多态性在55无关高加索加泰罗尼亚人进行了调查。表型通过α 2-肾上腺素受体密度和亲和力通过放射配体结合来表达。除了之前描述的两种双等位基因限制性片段长度多态性(RFLP) (DraI和Bsu36I) [Hoehe等人1988;Sun et al . 1992],利用非放射性同位素单链构象多态性(SSCP)分析发现,人类α 2a -肾上腺素能受体的启动子区域存在一个过渡。该区域的DNA序列分析表明,这种转变导致HhaI位点的丢失。在我们的样本中,该等位基因的频率估计为11%,而DraI等位基因的频率与其他高加索人群的报道相似,但与非洲裔美国人的观察结果不同。此外,加泰罗尼亚人群中Bsu36I等位基因的频率与日本和美国白人人群不同。在我们的人群中发现Bsu36I-DraI之间存在轻微的连锁不平衡。表型与RFLP基因型之间无相关性。
Polymorphisms of the human alpha 2A-adrenergic receptor gene in a Catalan population: description of a new polymorphism in the promoter region.
Alpha 2A-adrenergic receptor polymorphisms were investigated in 55 unrelated Caucasian Catalan individuals. Phenotypes were expressed by alpha 2-adrenoreceptor density and affinity determined by radioligand binding. In addition to the two previously described biallelic restriction fragment length polymorphisms (RFLP) (DraI and Bsu36I) [Hoehe et al 1988; Sun et al 1992], a transition was located in the promoter region of the human alpha 2A-adrenergic receptor using a non-radioisotopic single-strand conformational polymorphism (SSCP) analysis. DNA sequence analysis of this region showed that this transition produces the loss of a HhaI site. In our sample, the estimates of the frequency of this allele was 11% and those of DraI alleles were similar to those reported for other Caucasian populations but different from those observed in Afro-Americans. In addition, frequencies of the Bsu36I alleles in the Catalan population differed from those of Japanese and American White populations. A slight linkage disequilibrium between Bsu36I-DraI was found in our population. No association between phenotypes and RFLP genotypes was observed.