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La clonación posicional del locus del rasgo cuantitativo humano subyacente a la sensibilidad al sabor a la
Un-kyung Kim1, Eric Jorgenson, Hilary Coon
1National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA.
Science (New York, N.Y.)
|February 22, 2003
Resumen
Los científicos identificaron un gen en el cromosoma 7q que explica la variación en la sensibilidad al sabor de la feniltiocarbamida (PTC). Este descubrimiento aclara los complejos patrones de herencia para este rasgo genético común.
Área de la Ciencia:
- Genética La genética.
- Fisiología Humana Fisiología Humana
- Biología Molecular Biología Molecular
Sus antecedentes:
- La sensibilidad al sabor de la feniltiocarbamida (PTC) es un rasgo humano ampliamente estudiado y utilizado en la investigación genética y antropológica.
- Estudios genéticos previos sobre la sensibilidad al gusto PTC han dado resultados contradictorios e indicado patrones complejos de herencia.
Objetivo del estudio:
- Para identificar el gen específico responsable de la sensibilidad al sabor de la feniltiocarbamida (PTC).
- Para resolver los complejos patrones de herencia observados en estudios previos de sabor PTC.
Principales métodos:
- Utilizó el análisis de desequilibrio de enlace entre los marcadores de polimorfismo de un solo nucleótido (SNP) y la sensibilidad al gusto PTC en individuos no relacionados.
- Centrada en una región específica del cromosoma 7q que contiene un gen receptor del gusto amargo TAS2R.
- Identificación de SNPs codificantes y haplotipos dentro del gen candidato.
Principales resultados:
- Una pequeña región en el cromosoma 7q, que contiene un gen TAS2R, mostró un fuerte desequilibrio de enlace con la sensibilidad al sabor PTC.
- Tres SNPs codificantes dentro de este gen dieron como resultado cinco haplotipos distintos a nivel mundial.
- Estos haplotipos explican completamente la distribución bimodal de la sensibilidad al gusto PTC, que representa entre el 55 y el 85% de la varianza del rasgo.
- Los haplotipos específicos se asociaron con fenotipos de sabor distintos, lo que confirma la influencia directa del gen.
Conclusiones:
- Un solo gen dentro de la familia TAS2R en el cromosoma 7q es el principal determinante de la sensibilidad al sabor de la feniltiocarbamida (PTC).
- Las variantes de secuencia dentro de este gen interactúan para influir en la percepción del gusto PTC, resolviendo complejos patrones de herencia.
- Este hallazgo proporciona una base genética clara para la sensibilidad al sabor PTC, que tiene un impacto en futuros estudios genéticos y antropológicos.
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