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目的克隆与原发无精症发病相关的基因。方法运用改进的ｍＲＮＡ差异显示技术，从原发无精症患者和正常成人睾丸组织中获得两者的差异表达片段，即表达序列标志（ｅｘｐｒｅｓｓｅｄｓｅｑｕｅｎｃｅ－ｔａｇ，ＥＳＴ），并克隆测序分析。结果正常成人和原发无精症患者的睾丸组织存在明显的基因表达差异。所分析的５个在正常成人睾丸中表达、而在患者组织中不表达的差异片段中，１个与ＧｅｎＢａｎｋ中ｃｏｓｍｉｄＬ２７ｈ９的部分序列１００％同源，该ｃｏｓｍｉｄ插入序列位于４ｐ１６．３的亨廷顿舞蹈病基因区（Ｈｕｎｔｉｎｇｔｏｎ＇ｓｄｉｓｅａｓｅｒｅｇｉｏｎ），另４个为无同源序列的新基因片段。结论４ｐ１６．３的亨廷顿舞蹈病基因区可能与原发无精症相关，并在睾丸中表达。
Objective To clone the genes related to the pathogenesis of primary azoospermia. Methods Using improved mRNA differential display technique, differentially expressed fragments (ESTs) were obtained from patients with primary azoospermia and normal adult testes and cloned and sequenced. Results There were significant differences in gene expression in testis of normal adults and patients with primary azoospermia. Five of the analyzed were expressed in normal adult testes and one of the non-expressed differentially expressed fragments in the patient tissue was 100% homologous to the partial sequence of cosmid L27h9 in GenBank, which is located on the 4p16.3 Huntington’s disease The gene region (Huntington’s disease region), the other four non-homologous sequences of new gene fragments. Conclusions The gene region of HuPtD chorea 4p16.3 may be related to primary azoospermia and expressed in testis.