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Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families Biol. Res.
JARA,LILIAN; AMPUERO,SANDRA; SANTIBÁÑEZ,EUDOCIA; SECCIA,LORENA; RODRÍGUEZ,JUAN; BUSTAMANTE,MARIO; LAY-SON,GUILLERMO; OJEDA,JOSÉ MANUEL; REYES,JOSÉ MIGUEL; BLANCO,RAFAEL.
BRCA1 gene mutations account for nearly all families with multiple cases of both early onset breast and/or ovarian cancer and about 30% of hereditary breast cancer. Although to date more than 1,237 distinct mutations, polymorphisms, and variants have been described, several mutations have been found to be recurrent in this gene. We have analyzed 63 Chilean breast/ovarian cancer families for eighteen frequent BRCA1 mutations. The analysis of the five exons and two introns in which these mutations are located was made using mismatch PCR assay, ASO hybridization assay, restriction fragment analysis, allele specific PCR assay and direct sequentiation techniques. Two BRCA1 mutations (185delAG and C61G) and one variant of unknown significance (E1250K) were found...
Tipo: Journal article Palavras-chave: BRCA1 gene; Frequent mutations; Polymorphism; 4185delCAAG; New mutation; Chilean population.
Ano: 2004 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602004000300011
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Prevalence and Morphometric Characteristics of the Mandibular Incisive Canal through Panoramic Radiographs in a Chilean Population International Journal of Morphology
Fuentes,Ramón; Arias,Alain; Bucchi,Cristina; Saravia,Diego; Dias,Fernando.
The mandibular incisive canal (MIC) is a continuation of the mandibular canal, anterior to the mental foramen, containing the neurovascular bundle of the teeth in anterior mandibular segment. The aim of this study was to calculate the prevalence and analyze the morphometric parameters of MIC in a Chilean population through digital panoramic radiographs. A cross-sectional study was performed using 500 digital panoramic radiographies of adult individuals. The prevalence of MIC was set in different sexes, age groups and proximity to teeth; in addition to the morphometric parameters of length, width (diameter) and distances of MIC to dental element and the mandibular base. General MIC prevalence was 53 % (265 cases), 49.9 % in women and 57 % in men. In the age...
Tipo: Journal article Palavras-chave: Mandibular Incisive Canal; Prevalence; Morphometry; Chilean population.
Ano: 2017 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95022017000300022
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Prevalence of the 35delG mutation in the GJB2 gene in two samples of non-syndromic deaf subjects from Chile Biol. Res.
Cifuentes,Lucía; Arancibia,Margarita; Torrente,Mariela; Acuña,Mónica; Farfán,Corina; Ríos,Carolina.
Hearing loss is the most common inherited sensorial deficiency in humans; about 1 in 1000 children suffer from severe or profound hearing loss at birth. Mutations in the GJB2 gene are the most common cause of prelingual, non-syndromic autosomal recessive deafness in many populations; the c.35delG mutation is the most common in Caucasian populations. The frequency of the c.35delG mutation was estimated in two samples of deaf patients from Santiago, Chile. Unrelated non-syndromic sensorioneural deaf patients were examined: Group 1 consisted of 47 unrelated individuals with neurosensory deafness referred to the Chilean Cochlear Implant Program; Group 2 included 66 school children with prelingual deafness attending special education institutions for deaf...
Tipo: Journal article Palavras-chave: Genetic deafness; Hereditary hearing loss; 35delG mutation frequency; GJB2 mutations; Chilean population.
Ano: 2013 URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602013000300003
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