| 染色体1;12平衡易位与精子发生相关性研究 |
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| 引用本文： | 周作民,刘嘉茵,徐珉,沙家豪,林敏,周亚东,王黎熔,李建民.染色体1;12平衡易位与精子发生相关性研究[J].中华男科学杂志,2002,8(4):247-249. |
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| 作者姓名： | 周作民 刘嘉茵 徐珉 沙家豪 林敏 周亚东 王黎熔 李建民 |
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| 作者单位： | 南京医科大学组织学和胚胎学教研室,江苏省生殖医学重点实验室,江苏,南京,210029 |
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| 基金项目： | 江苏省杰出青年基金资助 (BQ2 0 0 0 10 ) |
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| 摘 要： | 目的 :对发现的不育伴染色体 1;12平衡易位的孪生兄弟进行研究 ,探讨与精子发生的关系。 方法 :对孪生兄弟进行染色体核型、精液常规、外周血激素测定和睾丸病理分析 ,并进行精子发生相关基因YRRM1、DAZ和DYS2 4 0位点的测定。 结果 :孪生兄弟的染色体核型均为 4 6 ,XY ,t(1;12 ) (q2 4 ;q2 4 ) ;精子密度 <1 0× 10 6/ml;外周血睾酮略低于正常 ,FSH和LH均正常 ;Y染色体长臂上的YRRM1、DAZ和DYS2 4 0基因未见缺失 ;睾丸病理分析显示生精阻滞 ,偶见精子。 结论 :染色体平衡易位t(1;12 ) (q2 4 ;q2 4 )可能是孪生兄弟精子发生障碍的原因 ,在染色体的断裂部位可能存在人精子发生相关基因
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| 关 键 词： | 染色体 孪生 平衡易位 精子发生 男性不育 |
| 文章编号： | 1009-3591(2002)04-0247-03 |
| 修稿时间： | 2002年1月29日 |
Study on the Relationship of Balanced Translocation t(1;12) with Spermatogenesis |
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| Zuo Min ZHOU,Jia Yin LIU,Min XU,Jia Hao SHA,Min LIN,Ya Dong ZHOU,Li Rong WANG,Jian Min LI.Study on the Relationship of Balanced Translocation t(1;12) with Spermatogenesis[J].National Journal of Andrology,2002,8(4):247-249. |
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| Authors: | Zuo Min ZHOU Jia Yin LIU Min XU Jia Hao SHA Min LIN Ya Dong ZHOU Li Rong WANG Jian Min LI |
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| Institution: | Department of Histology and Embryology, Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, Jiangsu 210029, China. |
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| Abstract: | OBJECTIVES: To investigate the relationship between chromosome balanced translocation t(1;12) (q24;q24) and spermatogenesis in infertile twin brothers. METHODS: For twin brothers, karotype were determined. The levels of testosterone, FSH and LH were detected. YRRM1, DAZ and DYS240 were analyzed. In younger brother a biopsy was taken from testis. RESULTS: Chromosome analysis for both twin brothers revealed a karotype of 46, XY, t(1;12) (q24;q24). Sperm count was less than 1.0 x 10(6)/ml. There was no deletion for YRRM1, DAZ and DYS240 gene on Y chromosome. Photomicrograph of seminiferous tubules showed the arrest of spermatogenesis. CONCLUSIONS: Chromosome balanced translocation t(1;12) (q24;q24) may be the cause of the spermatogenesis arrest in infertile twin brothers. Gene in the point of translocation may be related to spermatogenesis. |
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| Keywords: | Chromosome Twin brothers Balanced translocation Spermatogenesis Infertility |
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