Click for new scientific resources and news about Corona[COVID-19]

Paper Information

Journal:   INTERNATIONAL JOURNAL OF FERTILITY AND STERILITY   SUMMER 2011 , Volume 5 , Number SUPPLEMENT 1; Page(s) 39 To 39.
 
Paper: 

GENETICS: PREIMPLANTATION GENETIC DIAGNOSIS IN PREVENTION OF GENETIC DISEASES -DIAGNOSTIC OF SPINAL MUSCULAR ATROPHY (SMA)

 
 
Author(s):  LISS J., BRUSZCZYNSKA A., LUKASZUK K.*
 
* FERTILITY AND REPRODUCTIVE CENTER, INVICTA, GDANSK, POLAND
 
Abstract: 

Background: Preimplantation genetic diagnosis - PGD is currently an established procedure allowing genetic research of oocyte or embryo before implantation to the uterus. Spinal muscular atrophy (SMA) is a neurodegenerative disorder, being the second most common lethal autosomal recessive disease in Caucasians, after cystic fibrosis. There are three clinically different types of which type I (Werding-Hoffman Disease) is the most severe form. Around 98% of clinical cases of SMA are caused by the homozygous absence of a region of exons 7 and 8 of the telomeric copy of the SMN gene (SMN1) on chromosome 5 (5q13.3). We performed PGD for SMA in 5 couples who had already given birth to a child affected with SMA.
Materials and Methods: All patients underwent standard IVF procedures associated with intracytoplasmic sperm injection. 6-8 cell embryos were biopsied on day 3 of culture. Single cell nested PCR-RFLP protocol for PGD of SMA was used for detection of mutation.
Results: In course of IVF-PGD procedures all patients were performed transfer of embryos without SMN1 deletions. Four of five couples delivered healthy babies.
Conclusion: Preimplantation genetic diagnosis (PGD) of monogenic disorders is very efficient method, especially for patients when a previous child is homozygous for genetic disorders. It opens a new horizon of treatment for genetic disease carriers.

 
Keyword(s): PREIMPLANTATION GENETIC DIAGNOSIS, WERDNIG-HOFFMAN SYNDROME, SMA, GENETIC DISEASE, RECESSIVE AUTOSOMAL DISEASE
 
References: 
  • ندارد
 
  Yearly Visit 54
 
Latest on Blog
Enter SID Blog