Open AccessStudy on protocol improvement for spinal muscular atrophy preimplantation genetic diagnosis by using the minisequencing technique
Author(s) -
Le T. Duong,
Tran Van Khoa,
Nguyễn Thị Hồng Vân,
Ngo Truong Giang
Publication year - 2017
Publication title -
tạp chí khoa học đại học quốc gia hà nội: khoa học tự nhiên và công nghệ (vnu journal of science:natural sciences and technology)
Language(s) - English
Resource type - Journals
eISSN - 2615-9317
pISSN - 2588-1140
DOI - 10.25073/2588-1140/vnunst.4560
Subject(s) - spinal muscular atrophy , sma* , testis determining factor , preimplantation genetic diagnosis , atrophy , biology , exon , embryo , medicine , genetics , gene , y chromosome , mathematics , combinatorics
Spinal muscular atrophy (SMA) is a severe neurodegenerative autosomal recessive disorder. Most of patients are caused by the homozygous absence of exon 7 of the telomeric copy of the SMN gene (SMNt) on chromosome. Children with SMA often died prematurely at school age. Therefore, the aim of the study was to improve protocol for spinal muscular atrophy preimplantation genetic diagnosis by using the minisequencing technique. The study was conducted on 30 embryonic cell templates byopsied plus embryos, and four couples were treated using this method. Five unaffected embryos were transferred which resulted in two clinical pregnancy. We have successfully applied the technique of minisequencing for the Preimplantation Genetic Diagnosis of spinal muscular atrophy.