Study on protocol improvement for spinal muscular atrophy preimplantation genetic diagnosis by using the minisequencing technique

Authors: Nguyen, Thi Thanh Nga
Tran, Van Khoa
Nguyen, Thi Hong Van
Ngo, Truong Giang

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...

Title:	Study on protocol improvement for spinal muscular atrophy preimplantation genetic diagnosis by using the minisequencing technique
Other Titles:	Nghiên cứu hoàn thiện quy trình chẩn đoán di truyền trước chuyển phôi bệnh teo cơ tủy bằng kỹ thuật minisequening
Authors:	Nguyen, Thi Thanh Nga Tran, Van Khoa Nguyen, Thi Hong Van Ngo, Truong Giang
Keywords:	protocol improvement;spinal muscular atrophy;preimplantation genetic;minisequencing technique
Issue Date:	2017
Publisher:	ĐHQGHN
Series/Report no.:	Tập 33;Số 2S

Description:	tr. 53-59
URI:	http://repository.vnu.edu.vn/handle/VNU_123/60605
ISSN:	2588-1140
Appears in Collections:	Natural Sciences and Technology