Please use this identifier to cite or link to this item:
10.1080/09513590.2017.1404239
Title: | First preimplantation genetic testing case for monogenic disease in Latvia |
Authors: | Perminov, Dmitry Voložonoka, Ludmila Korņejeva, Liene Jokste-Pīmane, Evija Blumberga, Arita Krasucka, Sandra Seimuškina, Nellija Kovaļova, Irina Fodina, Violeta Rīga Stradiņš University |
Keywords: | Huntington’s disease (HD);linkage analysis;preimplantation genetic diagnosis (PGD);3.2 Clinical medicine;3.1 Basic medicine;1.1. Scientific article indexed in Web of Science and/or Scopus database;Endocrinology, Diabetes and Metabolism;Endocrinology;Obstetrics and Gynaecology;SDG 3 - Good Health and Well-being |
Issue Date: | 22-Dec-2017 |
Citation: | Perminov , D , Voložonoka , L , Korņejeva , L , Jokste-Pīmane , E , Blumberga , A , Krasucka , S , Seimuškina , N , Kovaļova , I & Fodina , V 2017 , ' First preimplantation genetic testing case for monogenic disease in Latvia ' , Gynecological Endocrinology , vol. 33 , pp. 47-49 . https://doi.org/10.1080/09513590.2017.1404239 |
Abstract: | 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. |
Description: | Publisher Copyright: © 2017 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group on behalf of the UR MED GRUPP (LLC). |
DOI: | 10.1080/09513590.2017.1404239 |
ISSN: | 0951-3590 |
Appears in Collections: | Research outputs from Pure / Zinātniskās darbības rezultāti no ZDIS Pure |
Files in This Item:
File | Size | Format | |
---|---|---|---|
First_preimplantation_genetic_testing_case.pdf | 821.81 kB | Adobe PDF | View/Open |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.