亲缘群体单体型推断的研究进展  

Research progress on methods for haplotyping in pedigrees

作　　者：胡艳玲[1] 蒋越[2] 王起山[1] 潘玉春[1] 

机构地区：[1]广西医科大学医学科学实验中心,南宁53002l [2]上海交通大学农业与生物学院动物科学系 200240

出　　处：《国际遗传学杂志》2011年第4期179-185,共7页International Journal of Genetics

基　　金：国家自然科学基金（30671492,81060213）

摘　　要：随着高通量的基因分型技术的出现，越来越多的单核苷酸多态性（singlenucleo—tidepolymorphism，SNP）可被检测。基因组研究中，单体型分析已被运用到SNP位点与复杂性．状的关联分析中。现有的单体型推断方法包括基于非亲缘群体的方法，DNApool样本方法和系谱资料方法。不过家庭及亲缘数据可为单体型推断提供很重要的信息，利用这些信息进行单体型推断会增加准确性。如今对亲缘群体单体型推断的算法和软件已有很多报道。该文的目的是回顾这些算法、软件以及它们的优缺点和适用的群体类型，同时探讨仍然存在的问题和面临的挑战。There are many single nucleotide polymorphism （SNP） markers available, due to the improved high-throughput genotyping technology. Currently, in the genome research, haplotype analysis has been applied to the association analysis between the SNP loci and complex traits. Existing haplotyping methods include population-based methods, pooled DNA methods, and methods for family and pedigree data. Family and pedigree datasets are abundant and have unique advantages. Currently there are many haplotyping methods for family and pedigree data that have been developed. We review the haplotyping methods and the corresponding computer programs suitable for family and pedigree data, discuss their applications and limitation, and describe the challenges that remain to be addressed.

关 键 词：亲缘群体 单体型推断 连锁不平衡 

分 类 号：Q[生物学]