poliformismos no se donde esta el itsmo Flashcards

1
Q

se encuentra en - del 1% de la población

A

mutación

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2
Q

variante de 1 gen en + del 1% de la población

A

polimorfismo

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3
Q

que cambia en los polimorfismos

A

1 nucleotido

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4
Q

tipos del SNP
(single nucleotide polymorphism)

A

siliente
No siliente

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5
Q

polimorfismo siliente

A

cambia un nucleotido mas no altera el aminoácido
a.a=a.a

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6
Q

polimorfismo no siliente

A

cambia el codon y el aminoácido
a.a =/ a.a

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7
Q

cSNP codificantes

A
  • modifica estructuras de proteínas
    sinónimos son silentes
    no sinónimos son No silentes
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8
Q

rSNP reguladores

A
  • modifican la expresion del gen
    promotor
    potenciador
    silenciador
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9
Q

srSNP estructurales

A

-modifican la estructura del RNA
splicing
3UTR 5UTR

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10
Q

métodos de detección de polimorfos

A
  • PCR-RFLP
    Polimorfismos con numero variable de repeticiones
  • secuenciación
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11
Q

PCR-RFLP usa…

A

enzimas de restricción

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12
Q

polimorfismos con numero variable de repeticiones

A

busca el número de nucleotidos que se repiten el el ADN

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13
Q

secuenciación

A

secuencia de nucleotidos y te permite ver mas a fondo la secuencia

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14
Q

usos de los polimorfismos

A
  • medicina forense
  • pruebas de paternidad
  • susceptibilidad a enfermedades
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