Neural tube defect family with recessive trait linked to chromosome 9q21.12-21.31
Tarih
2015Yazar
Bayri, YasarSoylemez, Burcak
Seker, Askin
Yuksel, Sirin
Tanrikulu, Bahattin
Unver, Olcay
Canbolat, Cagri
Sakar, Mustafa
Kardag, Ozen
Yakicier, Cengiz
Dagcinar, Adnan
Ziyal, Ibrahim
Bayrakli, Fatih
Üst veri
Tüm öğe kaydını gösterÖzet
Meningomyelocele is one of the most common and socioeconomically, psychologically, and physically debilitating neurodevelopmental diseases. A few chromosomal locus and genes have been identified as responsible for the disease; however, clear evidence still needs to be produced. This study aimed to show evidence of a strong genetic linkage in a novel chromosomal locus in a family with this neural tube defect. We identified a neural tube defect family in eastern Turkey, where two of six offspring had operations due to thoracolumbar meningomyelocele. The parents were of a consanguineous marriage. We collected venous blood from six offspring of the family. Whole genome linkage analysis was performed in all offspring. A theoretical maximum logarithm of an odds score of 3.16 was identified on chromosome 9q21.12-21.31. This result shows a strong genetic linkage to this locus. Our results identified a novel chromosomal locus related to meningomyelocele and provide a base for further investigations toward the discovery of a new causative gene.
Kaynak
CHILDS NERVOUS SYSTEMCilt
31Sayı
8Koleksiyonlar
- Makale Koleksiyonu [5200]
- Makale Koleksiyonu [5745]
- Öksüz Yayınlar Koleksiyonu - WoS [6162]