崂山奶山羊无角间性综合征生殖缺陷基因的基因型分析

doi:10.16431/j.cnki.1671-7236.2022.08.021

摘要/Abstract

摘要： 【目的】试验旨在对崂山奶山羊无角间性综合征(polled intersex syndrome,PIS)生殖缺陷基因进行定位并分析其基因型。【方法】以155只崂山奶山羊为研究对象,其中有角公羊9只、有角母羊34只、无角母羊29只、无角公羊47只、间性山羊36只。对36只间性山羊进行表型特征分析;以155只崂山奶山羊血液基因组DNA为材料进行遗传学性别鉴定;根据山羊基因组DNA的完整序列信息(RefSeq:NC_030808.1)分别设计PIS wt-2、PIS wt-3和PIS var-2 3对扩增引物,利用PCR方法验证山羊PIS区是否存在198 bp替换和108 bp缺失,并分析不同性状山羊PIS基因的基因型。【结果】36只间性山羊包括17只大阴蒂雄性假间性、12只拟雌性假间性和7只短阴茎间性这3种不同的表型,其性染色体均为XX;山羊PIS区是完全缺失的,且在129 427 003~129 427 905 bp区域并不存在198 bp替换和108 bp缺失;间性山羊的基因型全为突变纯合子,其突变类型为10.1 kb缺失/480 kb重复双突变;有角山羊的基因型全为野生型纯合子,没有发生10.1 kb缺失/480 kb重复;在检测的无角山羊中,有10只10.1 kb缺失/480 kb重复双突变纯合子公羊,其余无角山羊的基因型为10.1 kb缺失/480 kb重复单突变的杂合子。【结论】间性山羊的出现是由于10.1 kb的完全缺失和1个反向插入的约480 kb大小的重复片段导致,且间性性状仅发生在纯合子母羊中,而公羊的纯合缺失并不会出现间性性状。结果可为进一步揭示山羊无角性状的遗传机制以及培育崂山奶山羊无角新品系提供参考。

关键词: 山羊; 无角间性综合征(PIS); 基因型; 结构变异

Abstract: 【Objective】 The purpose of this study was to locate the polled intersex syndrome (PIS) reproductive defect gene and analyze its genotypes in Laoshan dairy goats.【Method】 A total of 155 Laoshan dairy goats were used in this study,including 9 horned rams,34 horned ewes,29 hornless ewes,47 hornless rams and 36 intersex goats.Phenotypic characteristics of 36 intersex goats were analyzed.Blood genomic DNA of 155 Laoshan dairy goats was used for genetic sex identification. Three pairs of primers for PIS wt-2,PIS wt-3 and PIS var-2 were designed according to the complete sequence information of goat genome DNA (RefSeq:NC_030808.1).PCR was used to verify whether there were 198 bp substitution and 108 bp deletion in PIS region of Laoshan dairy goats,and the genotypes of PIS gene in goats with different traits were analyzed.【Result】 Of the 36 intersex goats,17 goats displayed male pseudointersex with large clitoris,12 goats were pseudofemale pseudointersex,while 7 goats showed short penile intersex,and their sex chromosome were XX. The PIS region of Laoshan dairy goats was completely absent,and there was no 198 bp substitution or 108 bp deletion in 129 427 003-129 427 905 bp region. The genotypes of intersex goats were mutation homozygous,and the mutation type was with 10.1 kb deletion/480 kb duplication double mutations.The genotype of all horned goats was wild-type homozygous without 10.1 kb deletion/480 kb duplication.Among the hornless goats,ten 10.1 kb deletion/480 kb duplication double mutation homozygous rams were identified,and the rest of the hornless goats were heterozygous with 10.1 kb deletion/480 kb duplication single mutation.【Conclusion】 The appearance of intersex Laoshan dairy goats was caused by a total deletion of 10.1 kb and a reverse insertion of a duplicated fragment about 480 kb in size,and the intersex trait only occurred in mutation homozygous ewes,while the intersex trait did not occur in rams with homozygous deletions.The results could provide a reference for further revealing genetic mechanisms of hornless traits and breeding new hornless lines from Laoshan dairy goats.

Key words: goats; polled intersex syndrome (PIS); genotype; structural variation

中图分类号:

S827

张权威, 都萌萌, 程明, 戴正浩, 刘开东, 林晓坤, 高而尚, 秦至莉, 赵金山, 李和刚. 崂山奶山羊无角间性综合征生殖缺陷基因的基因型分析[J]. 中国畜牧兽医, 2022, 49(8): 3054-3061.

ZHANG Quanwei, DU Mengmeng, CHENG Ming, DAI Zhenghao, LIU Kaidong, LIN Xiaokun, GAO Ershang, QIN Zhili, ZHAO Jinshan, LI Hegang. Genotypic Analysis of Polled Intersex Syndrome Reproductive Defect Gene in Laoshan Dairy Goats[J]. China Animal Husbandry and Veterinary Medicine, 2022, 49(8): 3054-3061.

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