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
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Abstract

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by mutations in the dystrophin gene at Xp21.2. Mutations include gross deletions (60%), duplications (10%), and point mutations (30%). Duchenne muscular dystrophy is a serious and disabling disease. Progressive muscle wasting, which leads to severe disability and early death, make DMD highly distressing disorders to both patient and family. Since no effective treatment is as yet available, prenatal diagnosis is important for prevention of the disease. In this paper, we present our results from prenatal diagnoses in Macedonian DMD families. For prenatal diagnosis of 15 pregnancies at risk of having a DMD child, we used multiplex polymerase chain reaction (mPCR), multiplex ligation-dependent probe amplification analysis (MLPA) and DNA linkage analysis, using highly polymorphic intragenic short tandem repeat [STR-(CA) n] markers. DNA material was extracted from chorionic villus and amniotic fluid samples. Eight of the fetuses were male, three of whom had deletions in the dystrophin gene and five were normal. Two of the female fetuses were carriers of deletions in the dystrophin gene.

            Key words: Duchenne muscular dystrophy (DMD); Multiplex polymerase chain reaction (mPCR); Multiplex ligation-dependent probe amplification (MLPA); Short tandem repeat (STR).
 

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1 Macedonian Academy of Sciences and Arts, Research Center for Genetic Engineering and Biotechnology, 1000 Skopje, Republic of Macedonia
2 Pediatric Clinic, Faculty of Medicine, 1000 Skopje, Republic of Macedonia
3 Neurology Clinic, Faculty of Medicine, 1000 Skopje, Republic of Macedonia





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