Fallahi Jafar, Anvar Zahra, Razban Vahid, Momtahan Mozhdeh, Namavar-Jahromi Bahia, Fardaei Majid
Department of Molecular Medicine, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran.
Infertility Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Iran J Med Sci. 2020 Mar;45(2):118-124. doi: 10.30476/IJMS.2019.45335.
Recurrent hydatidiform moles (RHMs) are an unusual pregnancy with at least two molar gestations that are associated with abnormal proliferation of trophoblastic tissue and a failure in the embryonic tissues development. Three maternal-effect genes, including and have been identified as the cause of RHMs. The present study aimed to understand the association of a founder mutation with the incidence and prevalence of a disease in different individuals of a population.
14 unrelated Iranian patients with recurrent reproductive wastage, including at least two HMs, entered this study. In order to find a possible mutation in , all the 14 samples were Sanger sequenced. For haplotype analysis, three single nucleotide polymorphisms (SNPs) were selected with highest Minor Allele Frequency along .
A common mutation with the same haplotype was identified in four out of 14 patients with RHM. Regarding the present study, c.1A>G is the highest reported mutation in KHDC3L so far and is also the first report of the homozygous state that has led to RHM.
c.1A>G mutation in is the highest reported mutation around the world. Our data also demonstrated the presence of founder effects for this particular mutation in Iranian populations. These data suggest that the high frequency of this mutation is potentially responsible for a higher rate of RHM in Iran.
复发性葡萄胎（RHMs）是一种特殊的妊娠情况，至少有两次葡萄胎妊娠，与滋养层组织异常增殖及胚胎组织发育失败有关。已确定三个母体效应基因，包括[具体基因1]、[具体基因2]和[具体基因3]是复发性葡萄胎的病因。本研究旨在了解一个奠基者突变与某一人群不同个体中一种疾病的发病率和患病率之间的关联。
14名无亲缘关系的伊朗复发性生殖 wastage 患者，包括至少两次葡萄胎妊娠患者，进入本研究。为了在[具体基因]中寻找可能的突变，对所有14个样本进行了桑格测序。为了进行单倍型分析，沿着[具体基因]选择了三个最小等位基因频率最高的单核苷酸多态性（SNP）。
在14例复发性葡萄胎患者中的4例中鉴定出具有相同单倍型的常见[具体基因]突变。就本研究而言，c.1A>G是迄今为止在KHDC3L中报道的最高突变，也是导致复发性葡萄胎的纯合状态的首次报道。
[具体基因]中的c.1A>G突变是全世界报道的最高突变。我们的数据还证明了伊朗人群中这种特定突变存在奠基者效应。这些数据表明，这种突变的高频率可能是伊朗复发性葡萄胎发生率较高的原因。
