山羊基因组与遗传变异图谱研究进展

Research Progress of Goat Genome and Genetic Variation Map

高通量测序技术和生物信息学的发展极大的促进了山羊分子生物学研究。山羊参考基因组的不断完善以及基因组重测序技术的应用,在全基因组水平上发现了大量的遗传变异信息(SNP、Indel和CNV),丰富了山羊分子群体遗传学研究利用的分子标记。综述了山羊参考基因组组装和全基因组变异图谱的构建及其在山羊上的研究进展,以期为进一步利用分子遗传标记进行山羊的各种性状的遗传基础研究和遗传资源保护利用提供科学依据和参考。

The development of high-throughput sequencing technology and bioinformatics has greatly promoted the research of goat molecular biology.With the continuous improvement of goat reference genome and the application of whole genome re-sequencing technology,a large number of genetic variation information has been found at the whole genome level(SNP,Indel and CNV),which enriches the available molecular markers used in goat molecular population genetics research.This paper reviews the research and application progress of goat reference genome and whole genome variation map on goat,aiming at providing scientific basis and reference for further genetic basic research and genetic resource conservation and utilization of goat traits by using molecular genetic markers.