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Neural tube defect family with recessive trait linked to chromosome 9q21.12-21.31

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dc.contributor.authorDAĞÇINAR, ADNAN
dc.contributor.authorsBayri, 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
dc.date.accessioned2022-03-13T12:51:25Z
dc.date.available2022-03-13T12:51:25Z
dc.date.issued2015
dc.description.abstractMeningomyelocele 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.
dc.identifier.doi10.1007/s00381-015-2753-z
dc.identifier.eissn1433-0350
dc.identifier.issn0256-7040
dc.identifier.pubmed26005079
dc.identifier.urihttps://hdl.handle.net/11424/238468
dc.identifier.wosWOS:000358382400025
dc.language.isoeng
dc.publisherSPRINGER
dc.relation.ispartofCHILDS NERVOUS SYSTEM
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectMeningomyelocele
dc.subjectNeural tube defects
dc.subjectWhole genome linkage analysis
dc.subjectChromosome
dc.subjectLOD score
dc.subjectIDENTIFICATION
dc.subjectGENETICS
dc.titleNeural tube defect family with recessive trait linked to chromosome 9q21.12-21.31
dc.typearticle
dspace.entity.typePublication
local.avesis.id3950aed5-1049-407f-9677-8866e01282de
local.import.packageSS17
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.journal.numberofpages4
oaire.citation.endPage1370
oaire.citation.issue8
oaire.citation.startPage1367
oaire.citation.titleCHILDS NERVOUS SYSTEM
oaire.citation.volume31
relation.isAuthorOfPublication53e7d31c-a13c-42de-bbf1-385a42bc6589
relation.isAuthorOfPublication.latestForDiscovery53e7d31c-a13c-42de-bbf1-385a42bc6589

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