FEASIBILITY OF SHORT TANDEM REPEATS (STR) ANALYSIS FOR CARRIER DETECTION AND PRENATAL DIAGNOSIS IN FAMILIES WITH DUCHENNE MUSCULAR DYSTROPHY (DMD)

Authors

  • Sajida Shaheen CMH Gujranwala Cantt
  • Suhaib Ahmad Combined Military Hospital Gujranwala
  • Rizwan Hashim Army Medical College Rawalpindi
  • Abdus Sattar CMH Gujranwala Cantt
  • Farooq Ahmad Khan Armed Forces Institute of Pathology Rawalpindi

Keywords:

Carrier detection, Duchenne muscular dystrophy, prenatal diagnosis,, Short Tandem Repeats

Abstract

Objective: To determine the feasibility of Short Tandem Repeats (STR) based linkage analysis for carrier detection and prenatal diagnosis (PND) in families having children affected with Duchenne Muscular Dystrophy.
Study design: Case series
Settings: Department of Chemical Pathology and Endocrinology in collaboration with Department of Molecular Biology, Armed Forces Institute of Pathology (AFIP), Rawalpindi.
Duration: From February 2007 to January 2008.
Subjects: Six unrelated families with at least one affected child in each family who had characteristic features of DMD (index case).
Materials and Methods: PCR for Duchenne Muscular Dystrophy was carried out with STR based linkage analysis at introns 44, 45, 49 and 50 of DMD gene .Thermal cycling in TC-480 (Perkin Elmer) included 25 cycles each comprising 30 sec denaturation at 94ºC, annealing at 62ºC for 30 sec, extension at 65ºC for 2 min. The final extension was done for 3 min. The amplified products were run on 8% nondenaturing polyacrylamide gel electrophoresis (PAGE) carried out at 200V for three hours on electrophoresis apparatus (Bio-Rad UK). The gels were stained in silver nitrate. By comparing STR pattern of X-chromosome allele of index case with X-chromosome alleles of the mother, the diseased or affected X-chromosome was ascertained.
Results: Carrier detection and prenatal diagnosis was feasible with STR marker at intron 44 in DMD families. It was informative in 5 out of 6 DMD families.
Conclusion: Carrier detection and PND by STR based linkage analysis is technically feasible in Pakistani families with DMD.

Downloads

Download data is not yet available.

Downloads

Published

31-12-2011

Issue

Section

Original Articles

How to Cite

1.
Shaheen S, Ahmad S, Hashim R, Sattar A, Khan FA. FEASIBILITY OF SHORT TANDEM REPEATS (STR) ANALYSIS FOR CARRIER DETECTION AND PRENATAL DIAGNOSIS IN FAMILIES WITH DUCHENNE MUSCULAR DYSTROPHY (DMD). Pak Armed Forces Med J [Internet]. 2011 Dec. 31 [cited 2024 Jul. 14];61(4):537-41. Available from: https://www.pafmj.org/PAFMJ/article/view/1109