在诊断实验室建立BRCA1/2基因突变携带者PGD技术的建议模型

E. Ebrahimi, R. Shirkoohi, M. Abiri, S. Sabeghi, Kiyana sadat Fatemi, S. Bagheri, S. Zeinali, S. Amanpour
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引用次数: 0

摘要

背景:植入前遗传学诊断(PGD)最近被引入作为携带致病BRCA1/2突变个体的生殖选择。由于这项技术还没有在伊玛目霍梅尼医院癌症研究所的患者身上应用,这些患者携带易患乳腺癌的基因突变,因此这项研究旨在引入一种基于pgd的模型,使用单细胞淋巴细胞而不是胚胎卵裂球。方法:本研究纳入了两名已知BRCA1/2突变的受影响且不相关的女性。每个病人(连同她的兄弟姐妹)都被认为是来自一对假想夫妇的胚胎。从这些人以及他们的父母身上采集了血液样本。进行连锁分析。在此过程中,分别从第一家族和第二家族中选择一个无突变个体和一个突变携带者。然后从新鲜采集的外周血中提取单个淋巴细胞,然后进行巢式多重PCR。结果:PGD证实第一家族个体无突变,第二家族个体为致病突变携带者。结论:我们的研究结果表明,PGD是一个可行的选择,提供给“遗传性乳腺癌综合征”的家庭,谁已被诊断为已知的致病突变。我们介绍的模型可以作为其他计划推出这项技术的实验室的可能选择。
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A Proposed Model to Establish the PGD Technique for Carriers of BRCA1/2 Gene Mutations in a Diagnostic Laboratory
Background: Pre-implantation Genetic Diagnosis (PGD) has recently been introduced as a reproductive choice for individuals who carry a disease-causing BRCA1/2 mutation. Since this technology has not yet been launched for patients at the Cancer Institute of Imam Khomeini Hospital harboring gene mutations that predispose patients to breast cancer, this study aimed to introduce a PGD-based model using a single cell lymphocyte instead of an embryonic blastomere. Methods: Two affected and unrelated women with a known mutation in BRCA1/2 were enrolled in this study. Each patient (together with her siblings) was considered as an embryo derived from a hypothetical couple. Blood samples were collected from these individuals as well as their parents. Linkage analysis was performed. Following this process, a mutation-free individual and a mutation carrier was selected from the first and second family, respectively. A single lymphocyte was then extracted from their freshly taken peripheral blood, and afterwards Nested Multiplex PCR was performed. Results: PGD confirmed that the individual from the first family is free of a mutation and the second one is a pathogenic mutation carrier. Conclusion: Our results suggested that PGD is a viable choice to offer to families with "Hereditary Breast Cancer Syndrome", who have been diagnosed with a known pathogenic mutation. Our introduced model can be used as a possible option by other laboratories that are planning to launch this technology.
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