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ZİYAL, MUSTAFA İBRAHİM

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ZİYAL

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MUSTAFA İBRAHİM

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Subject: Chromosome ×

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    Neural tube defect family with recessive trait linked to chromosome 9q21.12-21.31
    (SPRINGER, 2015) DAĞÇINAR, ADNAN; Bayri, Yasar; Soylemez, Burcak; Seker, Askin; Yuksel, Sirin; Tanrikulu, Bahattin; Unver, Olcay; Canbolat, Cagri; Sakar, Mustafa; Kardag, Ozen; Yakicier, Cengiz; Dagcinar, Adnan; Ziyal, Ibrahim; Bayrakli, Fatih
    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.