変異黄体化ホルモンの生殖機構に及ぼす影響と家族性遺伝に関する研究

LHβ基因变异体与突变β亚单位（Trp 8至Arg 8和Ile 15至Thr 15）中的多态性在大多数人群中发现，由于携带这些LH变异体的临床特征仍然不清楚。为了消除荧光素激素（LH）的影响，变异体对转移和生殖机制的影响，并评估其在妇科疾病中的信号，包括炎症，血清样本从健康的非怀孕日本妇女和患者中收集到的与妇科疾病和血液细胞中的DNA被研究到患者使用聚合酶链反应和直接测序。In immunoassays， results with a monoclonal antibody recognizing only the wild-type hormone （SPAC-S LH） and a polyconal antibody recognizing the variant （Immulyze LH） as well were compared as a ratio （LH ratio ： SPAC-S LH/Immulyze LH） and 0.50 was considered a“cut-off”value for identifying individuals with the variant。我们结合了用特定免疫测定系统测量血清LH的方法 ... More ms can distinguish subjects with variant from those with normal LH in screening for the mutant LH？gene。Using the ratio of KH values from these assays to determine variant （<イイD2-イエD20.5） or wild-type （>0.5） LH status ratio， the variant occurred more frequently in the patients with gynecologic disease （18.4%） than in healthy women （8.5%）。患者的变异比其他患者（16.0%）更常见。早期的卵巢囊肿失败、高催乳症和轻度不充分性在患者与变异的情况下明显更频繁。LH可能会对女性生殖障碍、包括不孕症和前变性人失败做出贡献。为了评估比野生类型LH更野生类型LH的变异LH的秘密，自从在血清变体LH显示了更多的快速增加并达到了比野生类型荷尔蒙更高的局部浓度。Furethermore，我们确认，谁是mutant LHβ-子单位显示了一个额外的LH反应在GnRH刺激测试中，类似于患者的反应。However，这个响应模式来自变体LH没有显示出一种与异位紊乱的关系。因此，生物学的影响和临床意义对变异LH需要更多的研究。Less（低）

Although polymorphism in the LHβ gene variant with a mutant β-subunit (Trp8 to Arg8 and Ile15 to Thr15) is commonly found in most population, the clinical consequences of carrying this LH variant are still unclear. To elucidate the effect of an luteinizing hormone (LH) variant on ovulation and reproductive mechanism and to evaluate its significance in gynecologic disease, including infertility, serum samples were collected from healthy non-pregnant Japanese women and patients with gynecologic disease and DNA from blood cells was studied in patients using polymerase chain reaction and direct sequencing. In immunoassays, results with a monoclonal antibody recognizing only the wild-type hormone (SPAC-S LH) and a polyclonal antibody recognizing the variant (Immulyze LH) as well were compared as a ratio (LH ratio : SPAC-S LH/Immulyze LH) and 0.50 was considered a "cut-off" value for identifying individuals with the variant. We conclude that measuring serum LH with specific immunoassay syste … More ms can distinguish subjects with variant from those with normal LH in screening for the mutant LHβ gene. Using the ratio of KH values from these assays to determine variant (<ィイD2-ィエD20.5) or wild-type (>0.5) LH status ratio, the variant occurred more frequently in the patients with gynecologic disease (18.4%) than in healthy women (8.5%). The variant was more frequent in patients with ovulatory disorders (43.8%) than other patients (16.0%). Premature ovarian failure, hyperprolactinemia and luteal insufficiency were significantly more frequent in patients with the variant. Variant LH may contribute to female reproductive disorder, including infertility and premature ovarian failure. To assess the secretion of variant LH on pituitary stimulation than wild-type LH, since in serum variant LH showed a more rapid increase and reached a higher apparent concentration than the wild-type hormone.Furethermore, we confirmed that subjects who were homozygous for mutant LHβ-subunit showed an excessive LH response in the GnRH stimulation test, similar to the response in patients with PCOS. However, this response pattern from variant LH did not show a relationship to ovulatory disorders. Therefore, the biologic effects and clinical significance of variant LH require much further investigation. Less