Journal Paper

Paper Information

Journal:
Year:0 | Volume: | Issue:
Start Page: | End Page:

video

sound

Persian Version

View:

12,109

Download:

0

Cites:

Information Journal Paper

Title

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

Pages

 Start Page 39 | End Page 39

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.

Cites

  • No record.
  • References

  • No record.
  • Related Journal Papers

  • No record.
  • Related Seminar Papers

  • No record.
  • Related Plans

  • No record.
  • Recommended Workshops






    File Not Exists.