SYCP3 mutation may not be associated with recurrent miscarriage caused by aneuploidy
SYCP3 mutation may not be associated with recurrent miscarriage caused by aneuploidy
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DOI：
10.1093/humrep/der035
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发表时间：
2011-05-01
影响因子：
6.1
通讯作者：
Sugiura-Ogasawara, Mayumi
中科院分区：
文献类型：
--
作者：
Mizutani, Eita;Suzumori, Nobuhiro;Sugiura-Ogasawara, Mayumi
背景技术背景：SYCP3突变已被证明以显性负性方式产生异常联会复合体，并导致可能导致复发性流产的异常染色体行为。我们研究SYCP3突变是否与胚胎非整倍体引起的复发性流产有关。方法：采用PCR和测序技术对101例有3次或3次以上不明原因复发性流产史的患者和82例无流产史的生育对照者进行SYCP3 657T > C突变检测。结果：在1例有6次反复流产史的胚胎整倍体患者和1例正常生育妇女中发现SYCP3基因657T > C突变。结论：SYCP3基因657T > C突变可能与非整倍体引起的反复流产无关。我们发现SYCP3突变的常规检查没有临床意义，因为在101例患者中仅确定了一个良性突变。
BACKGROUND: SYCP3 mutations have been shown to generate an aberrant synaptonemal complex in a dominant-negative manner and to contribute to abnormal chromosomal behavior that might lead to recurrent miscarriage. We examined whether SYCP3 mutation is associated with recurrent miscarriage caused by embryonic aneuploidy.METHODS: The SYCP3 657T > C mutation was examined using PCR and sequencing in 101 patients with a history of three or more unexplained recurrent miscarriages and 82 fertile controls with no history of miscarriage. The embryonic karyotype in the aborted conceptus was analyzed.RESULTS: The 657T > C mutation of SYCP3 was identified in one patient with a history of six recurrent miscarriages with embryonic euploidy and one fertile woman in the control group. Patients with abnormal and normal chromosome were found to repeat miscarriage with abnormal and normal chromosome, respectively.CONCLUSIONS: The 657T > C mutation of SYCP3 may not be associated with recurrent miscarriage caused by aneuploidy. We found no clinical significance of routine examination of the SYCP3 mutation because only one benign mutation was ascertained in 101 patients.