Ανίχνευση φορέων νωτιαίας μυϊκής ατροφίας με ποσοτικό pcr στο γενικό πληθυσμό

Doctoral Dissertation uoadl:1305708 103 Read counter

Unit:
Τομέας Υγείας - Μητέρας - Παιδιού
Library of the School of Health Sciences
Deposit date:
2013-07-10
Year:
2013
Author:
Κωνσταντινίδης Γεώργιος
Dissertation committee:
Εμμανουήλ Καναβάκης, Αικατερίνη Μεταξωτού, Αριάδνη Μαύρου
Original Title:
Ανίχνευση φορέων νωτιαίας μυϊκής ατροφίας με ποσοτικό pcr στο γενικό πληθυσμό
Languages:
Greek
Summary:
Spinal muscular atrophy (SMA) is one of the most common autosomal recessive
disorders worldwide: the carrier frequency is between 1/40 and 1/60 in diverse
populations and it affects 1 in 10 000 live births. Using quantitative
analysis of SMN1/SMN2 gene dosage, a range of molecular investigations of the
incidence of carriers and the genetic burden of SMA in diverse ethnic
populations have been carried out. However, a population-based study of SMA
prevalence in Greece has not yet been executed. To estimate the future burden
of SMA and the requirements for its appropriate treatment, management and
prevention in the Greek population, accurate population frequency data are
essential.
In the study reported herein, we determined SMN copy number in 96 DNA samples
and from 44 core families with individuals with SMA, using Multiplex ligation
dependent probe amplification (MLPA), a proven highly efficient and reliable
carrier-screening test. The frequency of SMA carriers in our population appears
to be 1in 52, which indicates that the prevalence of SMA among Greeks is the
same as that among individuals in the Western countries. We anticipate that our
research will provide a basis for a nationwide program of clinical/prenatal
diagnosis to prevent SMA in Greece.
Keywords:
Spinal Muscular Atrophy, Carriers, Quantitative PCR, SMN1, MLPA
Index:
No
Number of index pages:
0
Contains images:
Yes
Number of references:
153
Number of pages:
150
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