Lund Annastiina, Juvonen Vesa, Lähdetie Jaana, Aittomäki Kristiina, Tapanainen Juha S, Savontaus Marja Liisa
Department of Medical Genetics, University of Turku, Turku, Finland.
Fertil Steril. 2003 Jun;79 Suppl 3:1647-8. doi: 10.1016/s0015-0282(03)00256-5.
To study a new sequence variant at the beginning of the CAG repeat in the exon 1 of the androgen receptor gene.
Controlled clinical study.
Healthy volunteers in an academic research environment.
PATIENT(S): Sixty-two Finnish men with spermatogenic failure and 60 controls.
INTERVENTION(S): ABI PRISM 377 (Applied Biosystems, Foster City, CA) automated sequencing.
MAIN OUTCOME MEASURE(S): Determining the sequence around the CAG repeat of the AR gene.
RESULT(S): A new 173A-->T (Q58L) substitution at the beginning of the CAG repeat in the transactivation-regulating domain of the androgen receptor was found in 2 infertile Finnish men but not in 60 other infertile men or 60 controls.
CONCLUSION(S): As the polyglutamine tract coded by the CAG repeat is crucial to spermatogenesis, the 173A-->T (Q58L) substitution might be the cause of infertility in these two Finnish men.
研究雄激素受体基因外显子1中CAG重复序列起始处的一个新的序列变异。
对照临床研究。
学术研究环境中的健康志愿者。
62名患有生精功能障碍的芬兰男性和60名对照者。
应用ABI PRISM 377（应用生物系统公司，加利福尼亚州福斯特城）进行自动测序。
确定雄激素受体基因CAG重复序列周围的序列。
在2名不育的芬兰男性中发现雄激素受体反式激活调节域的CAG重复序列起始处有一个新的173A→T（Q58L）替换，而在其他60名不育男性或60名对照者中未发现。
由于CAG重复序列编码的聚谷氨酰胺序列对精子发生至关重要，173A→T（Q58L）替换可能是这两名芬兰男性不育的原因。
