Utilización de una sonda de DNA específica en la confirmación de anemia falciforme en una mujer caucasiana.

I. Vega, G. León, R. I. Muñoz, C. Zapata, M. Krauskopf

Resultado de la investigación: Article

3 Citas (Scopus)

Resumen

A specific DNA probe containing part of the structural B-globulin gene was used to confirm the diagnosis of sickle cell anemia in a caucasian woman. The patient's genomic DNA was digested with the restriction endonuclease Dde I, fractioned by agarose electrophoresis and Southern blotting. Molecular hybridization was performed with the DNA probe prepared by chemical labelling with photobiotin. The beta 8/beta 8 genotype rendered only 1 fragment of length 376 bp. Upon digestion with Dde I, the DNA of an individual with the normal genotype containing the enzyme recognition sequence at the site of sickle cell mutation, resulted in 2 fragments of 201 and 175 bp. The pedigree of the patient's caucasian family was studied by Hb electrophoresis. Four out of 7 brothers carried the sickle cell trait.

Idioma originalSpanish
Páginas (desde-hasta)306-312
Número de páginas7
PublicaciónRevista Medica de Chile
Volumen118
N.º3
EstadoPublished - mar 1990

Huella dactilar

DNA Probes
Sickle Cell Anemia
Electrophoresis
Genotype
Sickle Cell Trait
Deoxyribonuclease I
DNA
DNA Restriction Enzymes
Globulins
Pedigree
Southern Blotting
Sepharose
Siblings
Digestion
Mutation
Enzymes
Genes
photobiotin

ASJC Scopus subject areas

  • Medicine(all)

Citar esto

Vega, I., León, G., Muñoz, R. I., Zapata, C., & Krauskopf, M. (1990). Utilización de una sonda de DNA específica en la confirmación de anemia falciforme en una mujer caucasiana. Revista Medica de Chile, 118(3), 306-312.
Vega, I. ; León, G. ; Muñoz, R. I. ; Zapata, C. ; Krauskopf, M. / Utilización de una sonda de DNA específica en la confirmación de anemia falciforme en una mujer caucasiana. En: Revista Medica de Chile. 1990 ; Vol. 118, N.º 3. pp. 306-312.
@article{8719a2e2cd31447e93af201330ee97c5,
title = "Utilizaci{\'o}n de una sonda de DNA espec{\'i}fica en la confirmaci{\'o}n de anemia falciforme en una mujer caucasiana.",
abstract = "A specific DNA probe containing part of the structural B-globulin gene was used to confirm the diagnosis of sickle cell anemia in a caucasian woman. The patient's genomic DNA was digested with the restriction endonuclease Dde I, fractioned by agarose electrophoresis and Southern blotting. Molecular hybridization was performed with the DNA probe prepared by chemical labelling with photobiotin. The beta 8/beta 8 genotype rendered only 1 fragment of length 376 bp. Upon digestion with Dde I, the DNA of an individual with the normal genotype containing the enzyme recognition sequence at the site of sickle cell mutation, resulted in 2 fragments of 201 and 175 bp. The pedigree of the patient's caucasian family was studied by Hb electrophoresis. Four out of 7 brothers carried the sickle cell trait.",
author = "I. Vega and G. Le{\'o}n and Mu{\~n}oz, {R. I.} and C. Zapata and M. Krauskopf",
year = "1990",
month = "3",
language = "Spanish",
volume = "118",
pages = "306--312",
journal = "Revista Medica de Chile",
issn = "0034-9887",
publisher = "Sociedad Medica de Santiago",
number = "3",

}

Vega, I, León, G, Muñoz, RI, Zapata, C & Krauskopf, M 1990, 'Utilización de una sonda de DNA específica en la confirmación de anemia falciforme en una mujer caucasiana.', Revista Medica de Chile, vol. 118, n.º 3, pp. 306-312.

Utilización de una sonda de DNA específica en la confirmación de anemia falciforme en una mujer caucasiana. / Vega, I.; León, G.; Muñoz, R. I.; Zapata, C.; Krauskopf, M.

En: Revista Medica de Chile, Vol. 118, N.º 3, 03.1990, p. 306-312.

Resultado de la investigación: Article

TY - JOUR

T1 - Utilización de una sonda de DNA específica en la confirmación de anemia falciforme en una mujer caucasiana.

AU - Vega, I.

AU - León, G.

AU - Muñoz, R. I.

AU - Zapata, C.

AU - Krauskopf, M.

PY - 1990/3

Y1 - 1990/3

N2 - A specific DNA probe containing part of the structural B-globulin gene was used to confirm the diagnosis of sickle cell anemia in a caucasian woman. The patient's genomic DNA was digested with the restriction endonuclease Dde I, fractioned by agarose electrophoresis and Southern blotting. Molecular hybridization was performed with the DNA probe prepared by chemical labelling with photobiotin. The beta 8/beta 8 genotype rendered only 1 fragment of length 376 bp. Upon digestion with Dde I, the DNA of an individual with the normal genotype containing the enzyme recognition sequence at the site of sickle cell mutation, resulted in 2 fragments of 201 and 175 bp. The pedigree of the patient's caucasian family was studied by Hb electrophoresis. Four out of 7 brothers carried the sickle cell trait.

AB - A specific DNA probe containing part of the structural B-globulin gene was used to confirm the diagnosis of sickle cell anemia in a caucasian woman. The patient's genomic DNA was digested with the restriction endonuclease Dde I, fractioned by agarose electrophoresis and Southern blotting. Molecular hybridization was performed with the DNA probe prepared by chemical labelling with photobiotin. The beta 8/beta 8 genotype rendered only 1 fragment of length 376 bp. Upon digestion with Dde I, the DNA of an individual with the normal genotype containing the enzyme recognition sequence at the site of sickle cell mutation, resulted in 2 fragments of 201 and 175 bp. The pedigree of the patient's caucasian family was studied by Hb electrophoresis. Four out of 7 brothers carried the sickle cell trait.

UR - http://www.scopus.com/inward/record.url?scp=0025402207&partnerID=8YFLogxK

M3 - Article

VL - 118

SP - 306

EP - 312

JO - Revista Medica de Chile

JF - Revista Medica de Chile

SN - 0034-9887

IS - 3

ER -