Prenatal diagnosis of childhood proximal spinal muscular atrophy (SMA) is carried out by the detection of homozygous deletions of survival motor neuron (SMN; exons 7 and 8) and neuronal apoptosis inhibitory protein (NAIP; exons 5 and 6) genes located in 5q13 chromosomal region. In Hacettepe University, Department of Medical Biology, 203 postnatal molecular diagnoses of SMA have been carried out since October 1994 and prenatal diagnosis in subsequent pregnancies to couples who previously had an affected child became possible. Between January 1996 and December 1999 totally 41 SMA families were analyzed by detecting homozygous deletions of SMN and NAIP genes for prenatal counseling. Fetal DNAs were obtained from amniotic fluid and chorionic villus samples. 8/41 (20%) fetal samples were found to be affected and these pregnancies were terminated. It was interesting to find that 2 fetuses had only SMN deletions, however their affected siblings had both SMN and NAIP gene deletions.
- MeSH
- delece genu MeSH
- DNA genetika MeSH
- exony MeSH
- homozygot MeSH
- lidé MeSH
- polymorfismus genetický MeSH
- prenatální diagnóza metody MeSH
- protein NAIP MeSH
- protein vázající cAMP responzivní element MeSH
- proteinový komplex SMN MeSH
- proteiny nervové tkáně genetika MeSH
- proteiny vázající RNA MeSH
- spinální svalová atrofie diagnóza etnologie genetika MeSH
- těhotenství MeSH
- Check Tag
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Turecko MeSH
- Názvy látek
- DNA MeSH
- NAIP protein, human MeSH Prohlížeč
- protein NAIP MeSH
- protein vázající cAMP responzivní element MeSH
- proteinový komplex SMN MeSH
- proteiny nervové tkáně MeSH
- proteiny vázající RNA MeSH
