Perminov Dmitry, Voložonoka Ludmila, Korņejeva Liene, Jokste-Pțmane Evija, Blumberga Arita, Krasucka Sandra, Seimuškina Nellija, Kovaļova Irina, Fodina Violeta
a "IVF Riga" IVF and Reproductive Genetics Clinic , Zaļā iela 1 , Rīga , Latvija.
b Riga Stradins University , Dzirciema iela 16 , Rīga , Latvija.
Gynecol Endocrinol. 2017;33(sup1):47-49. doi: 10.1080/09513590.2017.1404239.
Huntington's disease (HD) is fatal neurodegenerative disease caused by a (CAG) triplet repeat expansion in the Huntingtin (HTT) gene. Inheritance pattern of the disease is autosomal dominant and onset depending on triplet repeat count. Transgenerational HD transmission can be avoided by preimplantation genetic diagnosis (PGD). Here, we report the first preimplantation genetic testing case for monogenic disease, in Latvia. The result of our work led to the birth of healthy child with normal HTT alleles in his genome. We describe a PGD strategy and testing algorithm that can be applied to any couple at risk of transmitting monogenic disease.
亨廷顿舞蹈症（HD）是一种由亨廷顿蛋白（HTT）基因中（CAG）三联体重复序列扩增引起的致命性神经退行性疾病。该疾病的遗传模式为常染色体显性遗传，其发病取决于三联体重复序列的数量。通过植入前基因诊断（PGD）可以避免HD的跨代遗传。在此，我们报告了拉脱维亚首例针对单基因疾病的植入前基因检测案例。我们的工作成果是一名基因组中HTT等位基因正常的健康婴儿诞生。我们描述了一种可应用于任何有单基因疾病遗传风险夫妇的PGD策略和检测算法。
