A diplotype is a subset of all genotypes on homologous chromosome pairs in the population. A specific diplotype is one variant of all possible combinations of the haplotypes that exist in the population. Feature: Both alleles and haplotypes reflect the components of chromosomes in individuals and in the population.

2022年2月15日 · 1 易混淆的概念 等位基因（alleles）基因型（genotypes）单倍型（Haplotype）二倍型（Diplotype） 基因座位 VS. 等位基因 两者的区别关键：...

2021年2月20日 · Results are commonly reported as a diplotype, which includes one maternal and one paternal allele that are both important to evaluate to predict clinical outcome. In this example, CYP2C19 *17/*17 denotes 2 increased function alleles (*17) inherited for the CYP2C19 gene, and this result predicts an ultrarapid metabolizer phenotype (see Table 1).

2021年1月27日 · 单倍型：单倍型 (haplotype)：位于一条染色体上某一区域的一组相关联的多个SNP等位位点被称作单倍型。 单倍型表示以基因*数字或数字字母组合表示，如 CYP2C9 *1, CYP2C9 *，如图： 两个材料的碱基序列比较，同一个位点上如果两个材料的基因型不同，那么这个单碱基的变化就可以叫做一个 SNP，而同一条染色体上相邻的多个SNP根据某一规则 (如 连锁不平衡)组合在一起就构成一个单倍型。 A haplotype is a physical grouping of genomic variants …

2019年5月16日 · Genotyping determines differences in a specific DNA sequence across a population. These sequence variations can be used as markers in linkage and association studies to determine genes relevant to specific traits. Review the vocabulary commonly encountered in genotyping experiments.

2021年10月15日 · The combination of CYP2D6 alleles a person harbors determines their diplotype (often also referred to as genotype). Examples are CYP2D6*1/*2 or CYP2D6*4/*5. Based on function, each allele can be assigned a value to calculate the activity score of the diplotype, which in turn is often used to assign phenotype.

More recently, association studies using diplotypes (haplotype pairs on homologous chromosomes) have become increasingly common. This article reviews the rationale of the four types of association analyses and discusses the situations in which diplotype-based analyses are more powerful than the other types of association analyses.

2024年5月2日 · 单倍型 (Haplotype)，也称 单体型，是倾向于一起遗传的 基因组 变异 （或 单核苷酸多态性 或 等位基因）的物理分组。 [1][2][3][4] 单倍型可以仅限于单个基因，也可以包括多个基因。 [1] 单倍型区别于 基因型，后者由同源染色体上的两个 等位基因 构成。 [5] 二倍体生物个体对于给定的基因组片段都有两个单倍型，代表母本和父本染色体。 [3] 一组相似的单倍型可被称为 单倍群 （haplogroup），常在不经历重组的DNA片段如（Y 染色体上不能重组的部分、和线粒 …

More recently, association studies using diplotypes (haplotype pairs on homologous chromosomes) have become increasingly common. This article reviews the rationale of the four types of association analyses and discusses the situations in which diplotype-based analyses are more powerful than the other types of association analyses.

2020年5月11日 · According to the codominance of two NAT2 haplotypes (diplotype), individual phenotypes are classified as rapid acetylator (RA), intermediate acetylator (IA), or slow acetylator (SA). The...