Detección de cambios conformacionales y mutaciones en el exón 8 del gen atp7b en pacientes cubanos con la enfermedad de Wilson

Yulia Clark; Teresa Collazo; Caridad Ruenes; Elsa García; Zoe Robaina; Trini Fragoso; Gabriel Rodríguez; Yaixa Piloto; Georgina Espinosa; Carlos Maragoto; Héctor Vera; Idalmis García; Lídice Reyes; Carlos Castañeda

Detección de cambios conformacionales y mutaciones en el exón 8 del gen atp7b en pacientes cubanos con la enfermedad de Wilson

Translated title of the contribution: Detection of conformational shifts and mutations in exon 8 from the atp7b gene in Cuban Wilson's disease patients

Yulia Clark, Teresa Collazo, Caridad Ruenes, Elsa García, Zoe Robaina, Trini Fragoso, Gabriel Rodríguez, Yaixa Piloto, Georgina Espinosa, Carlos Maragoto, Héctor Vera, Idalmis García, Lídice Reyes, Carlos Castañeda

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Abstract

Wilson's disease is a hereditary disorder of autosomal recessive inheritance that can cause irreversible, potentially lethal lesions to liver and brain. Its molecular cause is the appearance of mutations in the atp7b gene. A total of 379 different disease-producing mutations are currently known, turning the molecular diagnosis of this disorder into a formidable challenge. The present study used single-strand conformational polymorphism for the detection of conformational changes in exon 8 of this gene. Two shifts distinct from the normal allele, denominated b and c, were detected and mapped to mutations L708P and 2304DupC in heterozygosis. Allelic frequencies for these mutations in 72 Cuban Wilson's disease patients were 2 and 0.7%, respectively.

Translated title of the contribution	Detection of conformational shifts and mutations in exon 8 from the atp7b gene in Cuban Wilson's disease patients
Original language	Spanish
Pages (from-to)	83-90
Number of pages	8
Journal	Biotecnologia Aplicada
Volume	28
Issue number	2
State	Published - Apr 2011
Externally published	Yes

Cite this

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title = "Detecci{\'o}n de cambios conformacionales y mutaciones en el ex{\'o}n 8 del gen atp7b en pacientes cubanos con la enfermedad de Wilson",

abstract = "Wilson's disease is a hereditary disorder of autosomal recessive inheritance that can cause irreversible, potentially lethal lesions to liver and brain. Its molecular cause is the appearance of mutations in the atp7b gene. A total of 379 different disease-producing mutations are currently known, turning the molecular diagnosis of this disorder into a formidable challenge. The present study used single-strand conformational polymorphism for the detection of conformational changes in exon 8 of this gene. Two shifts distinct from the normal allele, denominated b and c, were detected and mapped to mutations L708P and 2304DupC in heterozygosis. Allelic frequencies for these mutations in 72 Cuban Wilson's disease patients were 2 and 0.7%, respectively.",

keywords = "Mutation L708P, SSCP, Wilson's disease",

author = "Yulia Clark and Teresa Collazo and Caridad Ruenes and Elsa Garc{\'i}a and Zoe Robaina and Trini Fragoso and Gabriel Rodr{\'i}guez and Yaixa Piloto and Georgina Espinosa and Carlos Maragoto and H{\'e}ctor Vera and Idalmis Garc{\'i}a and L{\'i}dice Reyes and Carlos Casta{\~n}eda",

year = "2011",

month = apr,

language = "Espa{\~n}ol",

volume = "28",

pages = "83--90",

journal = "Biotecnologia Aplicada",

issn = "0864-4551",

publisher = "Elfos Scientiae",

number = "2",

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TY - JOUR

T1 - Detección de cambios conformacionales y mutaciones en el exón 8 del gen atp7b en pacientes cubanos con la enfermedad de Wilson

AU - Clark, Yulia

AU - Collazo, Teresa

AU - Ruenes, Caridad

AU - García, Elsa

AU - Robaina, Zoe

AU - Fragoso, Trini

AU - Rodríguez, Gabriel

AU - Piloto, Yaixa

AU - Espinosa, Georgina

AU - Maragoto, Carlos

AU - Vera, Héctor

AU - García, Idalmis

AU - Reyes, Lídice

AU - Castañeda, Carlos

PY - 2011/4

Y1 - 2011/4

N2 - Wilson's disease is a hereditary disorder of autosomal recessive inheritance that can cause irreversible, potentially lethal lesions to liver and brain. Its molecular cause is the appearance of mutations in the atp7b gene. A total of 379 different disease-producing mutations are currently known, turning the molecular diagnosis of this disorder into a formidable challenge. The present study used single-strand conformational polymorphism for the detection of conformational changes in exon 8 of this gene. Two shifts distinct from the normal allele, denominated b and c, were detected and mapped to mutations L708P and 2304DupC in heterozygosis. Allelic frequencies for these mutations in 72 Cuban Wilson's disease patients were 2 and 0.7%, respectively.

AB - Wilson's disease is a hereditary disorder of autosomal recessive inheritance that can cause irreversible, potentially lethal lesions to liver and brain. Its molecular cause is the appearance of mutations in the atp7b gene. A total of 379 different disease-producing mutations are currently known, turning the molecular diagnosis of this disorder into a formidable challenge. The present study used single-strand conformational polymorphism for the detection of conformational changes in exon 8 of this gene. Two shifts distinct from the normal allele, denominated b and c, were detected and mapped to mutations L708P and 2304DupC in heterozygosis. Allelic frequencies for these mutations in 72 Cuban Wilson's disease patients were 2 and 0.7%, respectively.

KW - Mutation L708P

KW - SSCP

KW - Wilson's disease

UR - http://www.scopus.com/inward/record.url?scp=80053914854&partnerID=8YFLogxK

M3 - Artículo

AN - SCOPUS:80053914854

SN - 0864-4551

VL - 28

SP - 83

EP - 90

JO - Biotecnologia Aplicada

JF - Biotecnologia Aplicada

IS - 2

ER -

Detección de cambios conformacionales y mutaciones en el exón 8 del gen atp7b en pacientes cubanos con la enfermedad de Wilson

Abstract

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