[医学]医学遗传学词汇Glossary.docVIP

Acceptor splice site？？The boundary between the 3’ end of an intron and the 5’ end of the following exon. Also called 3’ splice site. 剪接受体位点：内含子3′末端与下一个外显子5′端之间的交界处。又称3′剪接位点。 Acrocentric？？A type of chromosome with the centromere near one end. The human acrocentric chromosomes (13, 14, 15, 21, and 22) have satellited short arms that carry genes for ribosomal RNA. 近端着丝粒（染色体）：着丝粒位于接近染色体臂端部的染色体。人类近端着丝粒染色体（第13、14、15、21和22号）短臂的随体携带有编码核糖体RNA的基因。 Adverse selection？？A term used in the insurance industry to describe the situation in which individuals with private knowledge of having an increased risk for illness, disability, or death buy disproportionately more coverage than those at a lower risk. As a result, insurance premiums, which are based on averaging risk across the population, are inadequate to cover future claims. 逆向选择：保险业的专有名词，指投保人知晓其有较高的患病、残疾或死亡风险，但隐瞒真相购买相关保险。因此，根据人群平均风险制定的保险费不足以支付相关费用。 Affected pedigree member method？？A model-free method of linkage analysis that systematically measures whether relatives affected with a disease share alleles at a locus more frequently than would be predicted by chance alone from their familial relationship. If the relatives are sibs, it is referred to as the affected sibpair method of linkage analysis. 患病家系成员法：一种不用模型的连锁分析方法。系统性地分析同患疾病的家系成员共享同一基因座等位基因的频率是否高于随机计算值。若为胞亲，则称为连锁分析的患病胞对法。 Allele？？One of the alternative versions of a gene or DNA sequence at a given locus. 等位基因：在一对同源染色体的同一基因座上的两个不同形式的基因。 Allele-specific oligonucleotide (ASO)？？An oligonucleotide probe synthesized to match a particular DNA sequence precisely and allow the discrimination of alleles that differ by only a single base. 等位基因特异的寡核苷酸（ASO）：与基因点突变热点区互补的人工合成的寡核苷酸序列。 Allelic exclusion？？In immunogenetics, the observation that only one of the pair of parental alleles for each H chain and L chain of an immunoglobulin molecule is expressed within a single cell. 等位基因排斥：免疫球蛋白的杂合子只表达一对等位基因中的一个的现象。 Allelic heterogeneity？？In a population, there may be a number of different m