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Crossword Puzzle
Crossword Puzzle

Penetrancia y conceptos en genética

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Penetrancia y conceptos en genética

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About this activity

Palabras y definiciones

Created by

Elizabeth Maldonado Alvarado
Elizabeth Maldonado Alvarado
Mexico

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Penetrancia y conceptos en genética
 

Crossword Puzzle

Penetrancia y conceptos en genéticaOnline version

Palabras y definiciones

by Elizabeth Maldonado Alvarado
1

Proporción de individuos que muestran una característica entre los portadores de la variante.

2

Transmisión de rasgos de generación a generación.

3

Una de las variantes que puede ocupar un locus.

4

Ubicación física de un rasgo en el cromosoma.

5

Cambio permanente en la secuencia del material hereditario.

6

Conjunto de rasgos observables de un organismo.

7

Constitucion genetica de un individuo.

8

Tipo de herencia en que una variante enmascara a otras.

9

Gen cuya disfunción causa fibrosis quística y otros trastornos relacionados.

10

Variante de polimorfismo en el intrón 9 del CFTR que puede presentarse con 9, 7 o 5 timinas consecutivas.

11

Elemento de repetición adyacente al polyT que modula la expresión del gen CFTR (modula la severidad del fenotipo)

12

Genotipo TG13T5/CFvar se asocia con síntomas más graves porque reduce la proporción de ARN mensajero completo a menos de __%

13

Enfermedad clásica causada por mutaciones bialélicas graves en CFTR.

14

Tipo de insuficiencia observada en la mayoría de pacientes con CF clásica, relacionada con la secreción de enzimas digestivas.

15

Siglas de la condición masculina de infertilidad causada por ausencia congénita de los conductos deferentes.

16

Nivel intermedio de __ en sudor (30–60 mEq/L) se observó en individuos con genotipos CFvar/TG[11-13]T5.

17

Nombre del marco de interpretación de variantes utilizado en el estudio para clasificar mutaciones en CFTR.

18

De los haplotipos TG[11-13]T5, el que presenta menor penetrancia y suele relacionarse con pancreatitis recurrente en lugar de fibrosis quística clásica.

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