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Genetica medica > locus > Flashcards

locus Flashcards

1
Q

locus Down

A

21q22.1-22.3

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2
Q

Traslocación más común Patau

A

13q14

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3
Q

locus Wolf-Hirshhorn

A

deleción 4p16.3

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4
Q

locus Cri du Chat

A

deleción 5p13-15.2

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5
Q

locus Neurofibromatosis 1—> gen que codifica —> proteína

A

17q11.2–>NF1–>Neurofibromina

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6
Q

cromosoma NF2

A

22

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7
Q

locus Marfan—> gen

A

15q21–>FBN1 (fibrilina)

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8
Q

locus Acondroplasia—>gen—>protein

A

4p16.3–>FGFR3–>Fibroblast Growth Factor Receptor 3

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9
Q

Fibrosis quisitca locus-gen-producto

A

7q31.2-CFTR(cystic fibrosis transmembrane conductance regulator)-AMPc regulated chloride ion channels in the membranes of specialized epithelial cells in the bowel and lung, also sodium transport.

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10
Q

Mutación más frecuente de CFTR

A

DeltaF508 o F508del (deleción de fenilalanina en el aminoácido 508)

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11
Q

locus gen y producto de galactosemia

A

9p13.3-GALT-Galactosa-1-fosfato uridil transferasa (GAL-1-P uridil transferasa)

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12
Q

locus y gen de fenilcetonuria (PKU)

A

12q23.2-PAH (fenilalanina hidroxilasa)

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13
Q

locus gen proteina y estado de la proteina Duchenne

A

Xp21-DMD-Distrofina (no hay por mutación sin sentido o frameshift)

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14
Q

locus gen proteina y estado de la proteina Becker

A

Xp21-DMD-Distrofina (mal hecha por mutaciones missense)

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15
Q

locus gen proteina FABRY

A

Xq22.1-GLA- alfa galactosidasa A (A-GAL A)

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16
Q

Locus gen proteina Huntington y q pasa con los trinucleotidos

A

4p16.3-HTT-Huntingtina.
repetición CAG

17
Q

locus gen proteina X fragil

A

Xq27.3-FMR1-FMRP

18
Q

locus PW

A

15q11.2-13

19
Q

Locus angelman

A

15q11.2-13
UBE3A

20
Q

locus BRCA1

A

17q21.31

21
Q

locus BRCA2

A

13q13.1

22
Q

locus FAP (cancer de colon)

A

5q22.2->APC

Genetica medica (5 decks)

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