Klinefelter syndrome(KS)is one of the most frequent genetic abnormalities and the leading genetic cause of nonobstructive azoospermia.The breeding and study of KS mouse models are essential to advancing our knowledge of the underlying pathological mechanism.Karyotyping and fluorescence in situ hybridization are reliable methods for identifying chromosomal contents.However,technical issues associated with these methods can decrease the efficiency of breeding KS mouse models and limit studies that require rapid identification of target mice.To overcome these limitations,we developed three polymerase chain reaction-based assays to measure specific genetic information,including presence or absence of the sex determining region of chromosome Y(Sry),copy number of amelogenin,X-linked(Amelx),and inactive X specific transcripts(Xist)levels.Through a combined analysis of the assay results,we can infer the karyotype of target mice.We confirmed the utility of our assays with the successful generation of KS mouse models.Our assays are rapid,inexpensive,high capacity,easy to perform,and only require small sample amounts.Therefore,they facilitate the breeding and study of KS mouse models and help advance our knowledge of the pathological mechanism underlying KS.

Hai-Xia Zhang;Yu-Lin Zhou;Wen-Yan Xu;Xiao-Lu Chen;Jia-Yang Jiang;Xiao-Man Zhou;Zeng-Ge Wang;Rong-Qin Ke;Qi-Wei Guo

United Diagnostic and Research Center for Clinical Genetics,Women and Children's Hospital,School of Medicine and School of Public Health,Xiamen University,Xiamen 361102,China;School of Biomedical Sciences and School of Medicine,Huaqiao University,Quanzhou 362021,China;Beijing Children's Hospital,Capital Medical University,Beijing 100045,China

亚洲男性学杂志（英文版）

[1]Hai-Xia Zhang;Yu-Lin Zhou;Wen-Yan Xu;Xiao-Lu Chen;Jia-Yang Jiang;Xiao-Man Zhou;Zeng-Ge Wang;Rong-Qin Ke;Qi-Wei Guo-.Polymerase chain reaction-based assays facilitate the breeding and study of mouse models of Klinefelter syndrome)[J].亚洲男性学杂志（英文版）,2022(01):102-108

nonobstructive,Karyotyping,Sry,amelogenin,Amelx,Xist

Polymerase,chain,reaction,assays,facilitate,breeding,study,mouse,models,Klinefelter,syndrome,KS,one,most,frequent,genetic,abnormalities,leading,cause,azoospermia,are,essential,advancing,our,knowledge,underlying,pathological,mechanism,fluorescence,situ,hybridization,reliable,methods,identifying,chromosomal,contents,However,technical,issues,associated,these,can,decrease,efficiency,studies,that,require,rapid,identification,target,mice,To,overcome,limitations,developed,three,polymerase,measure,specific,information,including,presence,absence,sex,determining,region,chromosome,copy,number,linked,inactive,transcripts,levels,Through,combined,analysis,results,infer,karyotype,We,confirmed,utility,successful,generation,Our,inexpensive,high,capacity,easy,perform,only,small,sample,amounts,Therefore,they,help,advance

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