Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects.
Eur J Hum Genet
; 21(4): 367-72, 2013 Apr.
Article
en En
| MEDLINE
| ID: mdl-23032112
ABSTRACT
Genome-wide linkage analysis is an established tool to map inherited diseases. To our knowledge it has not been used in prenatal diagnostics of any genetic disorder. We present a family with a severe recessive mental retardation syndrome, where the mother wished pregnancy termination to avoid delivering another affected child. By genome-wide scanning using the Affymetrix (Santa Clara, CA, USA) 10k chip we were able to establish the disease haplotype. Without knowing the exact genetic defect, we excluded the condition in the fetus. The woman finally gave birth to a healthy baby. We suggest that genome-wide linkage analysis--based on either SNP mapping or full-genome sequencing--is a very useful tool in prenatal diagnostics of diseases.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Linaje
/
Diagnóstico Prenatal
/
Genoma Humano
/
Estudio de Asociación del Genoma Completo
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Ligamiento Genético
/
Discapacidad Intelectual
Tipo de estudio:
Diagnostic_studies
Límite:
Adolescent
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Adult
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Child
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Female
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Humans
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Male
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Pregnancy
Idioma:
En
Revista:
Eur J Hum Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2013
Tipo del documento:
Article
País de afiliación:
Alemania