陶志云　朱春红　刘宏祥　施祖灏　章双杰　徐文娟　宋卫涛　王志成　李慧芳

摘要： 本研究根据金定鸭个体蛋质量情况，选择2种极端表型，分为高蛋质量组（WH）和低蛋质量组（WL）。基于混池全基因组重测序和选择清除分析技术筛选组间差异显著基因组区域内的单核苷酸多态性（SNP）位点及相关功能基因，并通过单个样本重测序对筛选的蛋质量相关SNP进行验证，分析各SNP位点不同基因型之间的蛋质量大小差异。研究发现，在低蛋质量组和高蛋质量组获得的高质量reads数量分别为194 115 424和228 089 084，共定位到SNP差异显著区间178个，共富集到受选择候选基因40个，而且这些区间和基因均位于Z号染色体。鉴定出候选基因ARSB上Z-22908831、Z-22966695突变位点显著影响300 d、450 d蛋质量，RORB上Z-35251072、Z-35256947突变位点显著影响450 d蛋质量，RORB上Z-35278196突变位点显著影响300 d、450 d蛋质量，RASEF上Z-39588570突变位点显著影响450 d蛋质量。本研究结果为通过分子育种技术提高蛋鸭产蛋性能选育提供了依据，加快了选育进程。

关键词： 鸭；蛋质量；遗傳变异；功能基因

中图分类号： S834 文献标识码： A 文章编号： 1000-4440（2023）02-0461-10

Screening and identification of genetic variation and functional genes related to egg weight in ducks

TAO Zhi-yun¹， ZHU Chun-hong¹， LIU Hong-xiang¹， SHI Zu-hao²， ZHANG Shuang-jie¹， XU Wen-juan¹， SONG Wei-tao¹， WANG Zhi-cheng¹， LI Hui-fang¹

（1.Jiangsu Institute of Poultry Sciences， Yangzhou 225125， China；2.Pony Testing Group Jiangsu Co.， Ltd.， Suzhou 215123， China）

Abstract： In the study， two extreme phenotypes of Jinding ducks were selected according to individual egg weight： a high-egg-weight group （WH） and a low-egg-weight group （WL）. Single nucleotide polymorphism （SNP） sites and related functional genes that located in regions with significant genomic differences between the groups were screened based on mixed pool whole-genome re-sequencing and selective clearance analysis technology. The screened SNPs related to egg weight were verified by re-sequencing of each sample， and differences in egg weight between different genotypes of each SNP site were analyzed. Totals of 194 115 424 and 228 089 084 high-quality reads were obtained in the WL and WH groups， respectively. There were 178 significantly different SNP fragment regions， and 40 candidate genes were selected. These intervals and genes were located on chromosome Z. Z-22908831 and Z-22966695 mutation sites in the candidate gene ARSB significantly affected the egg weight of 300-day-old and 450-day-old ducks. Z-35251072 and Z-35256947 mutation sites in RORB significantly affected the egg weight of 450-day-old ducks. Z-35278196 mutation site in RORB significantly affected the egg weight of 300-day-old and 450-day-old ducks， and Z-39588570 mutation site in RASEF significantly affected the egg weight of 450-day-old ducks. These results provide a molecular basis for improving egg-laying performance and accelerating the breeding process in ducks.

Key words： duck;egg weight;genetic variation;functional gene

蛋鸭的产蛋性能，包括开产日龄、平均蛋质量、产蛋数、蛋品质等，是衡量其经济价值的主要指标^[1-2]。通过生物学方法，筛选影响蛋鸭产蛋性能的候选基因，将分子育种相关技术用于蛋鸭育种，是提高蛋鸭产蛋性能的有效手段^[1-2]。全基因组重测序技术是对基因组序列已知的个体进行全基因组测序，并在个体或群体水平上进行差异性分析的方法，可挖掘出大量的遗传变异位点^[3]，进而对挖掘的变异位点进行定位和鉴定，发现影响性状的重要基因及其功能，从而阐释性状差异的原因^[4]。……