CAJ | 학술논문

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( single nucleotide polymorphism，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，DNA pool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。
수착고통량적기인분형기술적출현，월래월다적단핵감산다태성( single nucleotide polymorphism，SNP)가피검측。기인조연구중，단체형분석이피운용도SNP위점여복잡성상적관련분석중。현유적단체형추단방법포괄기우비친연군체적방법，DNA pool양본방법화계보자료방법。불과가정급친연수거가위단체형추단제공흔중요적신식，이용저사신식진행단체형추단회증가준학성。여금대친연군체단체형추단적산법화연건이유흔다보도。해문적목적시회고저사산법、연건이급타문적우결점화괄용적군체류형，동시탐토잉연존재적문제화면림적도전。
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.