RET gene cys 634 trp mutation in a multiple endocrine neoplasia type 2A kindred / 中国医学科学院学报
Acta Academiae Medicinae Sinicae
;
(6): 799-802, 2006.
Artigo
em Chinês
| WPRIM
| ID: wpr-313681
ABSTRACT
<p><b>OBJECTIVE</b>To identify the genotype of RET gene in one multiple endocrine neoplasia type 2A (MEN2A) kindred.</p><p><b>METHODS</b>Genome DNA was extracted from peripheral blood leucocytes. The DNA sequence of gel-purified polymerase chain reaction (PCR) products was determined with the previously reported 6 pairs of primers of PCR amplification of 10, 11, 13, 14, 15, and 16 exons of RETgene.</p><p><b>RESULTS</b>No abnormalities were found in exon 10, 13, 14, 15, and 16. C to G replacement in nucleotide 14 996 of exon 11 was identified in DNA samples obtained from both peripheral blood of 2 affected brothers. This missense point mutation arisen in heterozygosity and caused a substitution of Cys to Trp residue at codon 634 ( Cys 634 Trp) in RET protein.</p><p><b>CONCLUSION</b>The genotype of the family is identified as Cys 634 Trp substitution of RET gene.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Reação em Cadeia da Polimerase
/
Éxons
/
Mutação Puntual
/
Neoplasia Endócrina Múltipla Tipo 2a
/
Proteínas Proto-Oncogênicas c-ret
/
Genética
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Acta Academiae Medicinae Sinicae
Ano de publicação:
2006
Tipo de documento:
Artigo
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