Layman L C, Roach D J, Plouffe L, McDonough P G, Wilson J T
Department of Obstetrics and Gynecology, Medical College of Georgia, Augusta 30912-3360.
Fertil Steril. 1990 Feb;53(2):261-5. doi: 10.1016/s0015-0282(16)53278-6.
Molecular diagnosis of disorders of follicle-stimulating hormone (FSH) production may become possible now that the gene for FSH beta has been characterized. Restriction-fragment length polymorphism (RFLP) analysis provides a means of organized search for molecular variants of FSH. The purpose of this study was to screen controls for the presence of RFLPs using the deoxyribonucleic acid (DNA) probe pFSH beta -1.4. Genomic DNA was digested with 12 different restriction endonucleases; Southern blots were constructed and hybridized to pFSH beta -1.4. No polymorphisms were identified with 11 enzymes. Three of 24 (12.6%) Hind III digests demonstrated a polymorphic fragment of either 5.2, 4.7, or 4.3 kb. These are the first RFLPs identified for the FSH beta gene with pFSH beta -1.4. RFLPs for FSH beta constitute the first step in the molecular analysis of disorders of FSH production.
既然促卵泡激素（FSH）β亚基的基因已被鉴定，那么对FSH生成障碍进行分子诊断就成为可能。限制性片段长度多态性（RFLP）分析为系统搜索FSH的分子变异体提供了一种方法。本研究的目的是使用脱氧核糖核酸（DNA）探针pFSHβ-1.4筛选对照人群中RFLP的存在情况。基因组DNA用12种不同的限制性内切酶进行消化；构建Southern印迹并与pFSHβ-1.4杂交。用11种酶未鉴定出多态性。在24个Hind III消化样本中，有3个（12.6%）显示出5.2、4.7或4.3 kb的多态性片段。这些是用pFSHβ-1.4鉴定出的首批FSHβ基因RFLP。FSHβ的RFLP是FSH生成障碍分子分析的第一步。
