PRENATAL DIAGNOSIS IN MACEDONIAN DUCHENNE MUSCULAR DYSTROPHY FAMILIES
Kocheva SA1,2, Trivodalieva S1, Plaseska-Karanfilska D1, Vlaski-Jekic S3, Kuturec M2, Efremov GD1,*
*Corresponding Author: Professor Dr. Georgi D. Efremov, Macedonian Academy of Sciences and Arts, Research Center for Genetic Engineering and Biotechnology, Aven Krste Misirkov 2, POB 428, 1000 Skopje, Republic of Macedonia; Tel.: +3892-120253; Fax: +3892-115434; E-mail: gde@manu.edu.mk
page: 59

INTRODUCTION

      Duchenne muscular dystrophy (DMD) is one of the most commonly inherited neuromuscular diseases, affecting one in 3,500 live-born males. It is an X-linked recessive disorder caused by mutations in the DMD gene located at Xp21.2 [1]. This is the largest identified gene in the human genome, spanning 2.4 Mb and contains 79 exons. It has a high mutation rate, approximately one-third of cases resulting from spontaneous mutations. Its transcript is 14 kb long and is expressed in skeletal muscle and the brain [2,3]. The dystrophin protein gene product is involved in linkage between the extracellular matrix and the cellular cytoskeleton [4-6]. Partial deletions and duplications of the dystrophin gene account for 60-70% of all DMD cases, while the rest have point mutations [7-9]. The affected subjects die from respiratory failure in their early twenties. Because of limitations of therapy at the present time, prenatal diagnosis is important in detection and prevention of the disease. Here, we present results of prenatal diagnoses of DMD in Macedonian families.




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