摘要
植入前遗传学诊断(PGD)是阻断遗传性疾病垂直传播的一种稳定而有效的孕前检查技术。近年来,随着这一技术的广泛应用,PGD指征正逐步扩展到遗传性癌症相关基因的植入前基因筛查。人类乳腺癌易感基因(BRCA1/2)是目前已知的乳腺癌高外显率易感基因,且BRCA1/2基因突变与家族性乳腺癌发病关系最为密切。目前,针对遗传性乳腺癌的个性化PGD已经证实可行。该综述回顾了乳腺癌易感基因植入前遗传学诊断技术的研究进展,为临床实践植入前遗传学诊断方案制定提供一定的思路。
Preimplantation genetic diagnosis（PGD）is a stable and available pre-pregnancy examination technique to prevent the vertical spread of hereditary diseases.With the wide application of the technology,the indications for PGD in recent years are gradually expanding to hereditary cancer genes.Human breast cancer susceptibility genes（BRCA1/2）are currently known high-penetrance breast cancer susceptibility genes,and BRCA1/2 mutations are very closely associated with the onset of familial breast cancer.Individualized PGD for inherited breast predisposition has now been proved to be feasible.In this review,we introduced the progress of the study on PGD for breast cancer susceptibility genes（BRCA1/2）to provide some ideas for development of clinical preimplantation genetic diagnosis program.
出处
《生殖医学杂志》
CAS
2015年第6期504-508,共5页
Journal of Reproductive Medicine
作者简介
徐晓菲，女，山东淄博人，硕士（在读），妇产科专业．
通讯作者，Email：yqyao@126．com
