凝血因子XI缺陷症(Factor XI deficiency)是荷斯坦牛的一种常染色体单基因控制的隐性遗传缺陷。该病的遗传基础是由位于牛第27号染色体的凝血因子XI基因外显子12上发生的一段76bp序列插入。本研究采用PCR方法对我国13个主要公牛站的571头荷斯坦公牛的凝血因子XI基因进行了全面检测,未发现隐性有害基因携带者和纯合个体。
Our previous studies demonstrated that the region around markers BMS470 and BMS1242 on BTA6 showed a linkage to 305-d milk yield and composition traits in the Chinese Holstein population. We herein focused on such narrow region to fine map milk production QTLs with 15 SNPs across 25 Mb with each SNP in 1 Mb within most regions in a Chinese Holstein population with daughter design. 1 449 Holstein cows and 11 sires were genotyped for such SNPs by using TaqMan probe and RFLP assays. Multipoint linkage analysis across family revealed a QTL affecting milk yield between PPARGC1A C4075T and SLC34A2 T1713C. Meanwhile, within family analysis found three milk yield QTLs (two in CR T60984131G-CEP135 C501T and one in PDLIM5 A106C-OPN T3907, a fat yield QTLin UGDH T1670C-CR T60984131G region, and two protein yield QTLs in TBC1D1 G501C-UGDH T1670C and PPARGC1A C4075T-SLC34A2 T1713C, respectively. Associations between aforementioned significant SNP markers and milk production traits were further implemented. We found significant associations of PPARGC1A C4075T, SLC34A2 T1713C with milk yield (P<0.05, P<0.01, P<0.01), UGDH T1670C, and CR T60984131G with fat yield (P<0.01, P<0.01), and PPARGC1A C4075T, SLC34A2 T1713C, UGDH T1670C and OPN T3907 with protein yield (P<0.01, P<0.01, P<0.01, P<0.01). Our findings implied that QTLs affecting milk production traits on BTA6 were pleictropism or multigenic effect and PPARGC1A and OPN may be the causal mutations behind milk production QTLs on BTA6 in the Chinese Holstein population.
LIU RuiSUN Dong-xiaoWANG Ya-chunYU YingZHANG YiCHEN Hui-yongZHANG QinZHANG Sheng-liZHANG Yuan
