Neural tube defect family with recessive trait linked to chromosome 9q21.12-21.31.
Childs Nerv Syst
; 31(8): 1367-70, 2015 Aug.
Article
en En
| MEDLINE
| ID: mdl-26005079
ABSTRACT
PURPOSE:
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.METHODS:
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.RESULTS:
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.CONCLUSIONS:
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.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 9
/
Salud de la Familia
/
Predisposición Genética a la Enfermedad
/
Genes Recesivos
/
Defectos del Tubo Neural
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
Límite:
Child
/
Female
/
Humans
/
Infant
País/Región como asunto:
Asia
Idioma:
En
Revista:
Childs Nerv Syst
Asunto de la revista:
NEUROLOGIA
/
PEDIATRIA
Año:
2015
Tipo del documento:
Article
País de afiliación:
Turquía