Lo necesario Flashcards

1
Q

Sindrome de microduplicacion

A

FISH

fish

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2
Q

gen LCT. Abordage omico

A

Genomica

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3
Q

Metodologia para diagnostico molecular de disautonomia familiar

A

TRansciptomica

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4
Q

Prinicpal limitacion GWAS en investigaiconcompleja

A

Baja potencia y resolucion para variantes de efecto modesto

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5
Q

FUncion ADN no codificamnte

A

Regulacion de expresion genica

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6
Q

Delecion cromosomica grande

A

Cariotipo

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7
Q

Metodologia para vislumbrar las diferencias en farmacocinetica

A

Proteomica del farmaco Y33 vs el X2

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8
Q

Sustituciones de base

A

Secuenciacion genomica

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9
Q

Mutacion en gen TAS1R2

A

Sustitucion de un solo par de bvases en sitio 2 que cambia codon de tirocina (TAC) a TAA (terminacion)

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10
Q

Biomarcador para cardiopatias con alteracion en microbiota intestinal

A

Metabolomica de la muestra de suero

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11
Q

Cariotipo util para

A

Alteraciones de numero de cromosomas

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12
Q

Mediano tamaño

A

Usar fish

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13
Q

BLAST

A

herramienta mas usada para buscar secuencias en bases de datos

busca similitudes

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14
Q

Ob

Objetivo final de BLAST

A

inferir relaciones evolutivas y funcinoales entre 2 secuencias de ADN o proteinas

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15
Q

Variantes de blast

A

N: nucleotidos
P: proteinas
X: nucleotidos vs proteinas
T-TN: todos marcos de lectura de secuencias de nucleotidosa
T-X: 6 marcos de la secuencia de nucleotidos vs 6 marcos
MEGA: alineacion entre secuencias estrechamente relaiconadas
PSI- : homologos remotos / miembros de fam prot
PHI- : encuentra secuencia de proteinas con un patron especifico en la base de datos

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