Pregled bibliografske jedinice broj: 731449
Molecular diagnostics of spinal muscular atrophy by determination of copy numbers of SMN1, SMN2 and NAIP genes
Molecular diagnostics of spinal muscular atrophy by determination of copy numbers of SMN1, SMN2 and NAIP genes // The Eighth ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine
Split, Hrvatska, 2013. (poster, međunarodna recenzija, sažetak, znanstveni)
CROSBI ID: 731449 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Molecular diagnostics of spinal muscular atrophy by determination of copy numbers of SMN1, SMN2 and NAIP genes
Autori
Juričić, Ljiljana ; Merkler, Ana ; Canki-Klain, Nina ; Sertić, Jadranka
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni
Skup
The Eighth ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine
Mjesto i datum
Split, Hrvatska, 24.06.2013. - 28.06.2013
Vrsta sudjelovanja
Poster
Vrsta recenzije
Međunarodna recenzija
Ključne riječi
SMA; SMN1; SMN2; NAIP
Sažetak
Aim: SMA is autosomal recessive disease with 1/10000 livebirths. 95% SMA patients are homozygous for exon 7 SMN1 deletion, 3.6% are compound heterozygous (with point mutation). SMA carriers are heterozygous with one exon 7 SMN1 copy. Methods: We determined SMN1, SMN2 and NAIP copy number using MLPA/capillary electrophoresis. Results: Analysis of 222 DNA samples revealed 27 SMA carriers, 21 SMA patients and 174 persons with 2 SMN1 copies. Compared to group of 174 individuals: SMA carriers and SMA patients number with 3 SMN2 copies is increased ; SMA carriers and SMA patients number with 1 SMN2 copy is decreased ; SMA patients number with 2 SMN2 copies is decreased ; we detected 4.76% individuals with 4 SMN2 copies ; SMA carriers and SMA patients number with 1 NAIP copy is increased ; SMA carriers and SMA patients number with 2 NAIP copies is decreased ; SMA carriers number with 3 NAIP copies is decreased ; we detected absence of SMA carriers with 4 NAIP copies as well as SMA patients with 3 and 4 NAIP copies ; we detected 0 NAIP copies in 33.33% SMA patients and in 3.7% SMA carriers. Conclusion: Majority of SMA patients are homozygous for deletion of SMN1 and a normal or reduced number of SMN2 copies. Majority of type II and III SMA patients show homozygous absence of SMN1 as a result of gene conversion of SMN1 into SMN2, leading to absence of functional SMN1 and an increase to 3-4 copies of SMN2. NAIP deletions may indicate a severe form of SMA.
Izvorni jezik
Engleski
Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti
POVEZANOST RADA
Ustanove:
Klinički bolnički centar Zagreb
Profili:
Ana Merkler Šorgić
(autor)
Jadranka Sertić
(autor)
Ljiljana Juričić
(autor)
Nina Canki-Klain
(autor)