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

RESULTS AND DISCUSSION

We have previously studied the molecular basis of DMD/BMD in 94 Macedonian patients and have characterized most of our patients at the molecular level [17]. Mutations of the dystrophin gene were found in 76.5% (72/94), 72.3% being deletions (68/94) and 4.2% (4/94) being duplications. Genetic counseling has been given to all DMD families. Appropriate information about the disease and its genetic aspects were provided and the possibility and limits of genetic testing were discussed. Prenatal diagnosis (on request and after genetic counseling) was performed in 15 families at risk of having a DMD child. Representative results from mPCR, MLPA and STR analysis are shown on Figures 1, 2 and 3. Eight of the fetuses were males. Three were affected with deletions in the dystrophin gene and five were normal. The pregnancies were terminated for affected fetuses. Two of the seven female fetuses were carriers for deletions in the dystrophin gene.





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