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

Abstract

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

CLC Number:

S827

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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Genotypic Analysis of Polled Intersex Syndrome Reproductive Defect Gene in Laoshan Dairy Goats

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