title: DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.
abstract: Recently identified mutations affecting different domains of the RET proto-oncogene are associated with Multiple Endocrine Neoplasia type 2A (MEN 2A) and type 2B (MEN 2B), familial and sporadic Medullary Thyroid Carcinomas (MTC) and Hirschsprung disease (HSCR). In order to facilitate the screening for RET mutations, and to study possible genotype-phenotype correlations, we established exon-intron junctions and extended the intronic sequences flanking the 20 exons of this gene. This made it possible to design primers and to develop PCR conditions useful for SSCP analysis of the whole RET coding sequence. Nine conformational variants were observed which after sequencing turned out to be 8 silent mutations and a conservative amino acid substitution. Restriction analysis performed on DNA samples from unrelated controls confirmed the polymorphic nature of six of these nucleotide changes and made it possible to estimate the frequency of the corresponding alleles.
authors.affiliation: Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Genova, Italy.
authors.forename: I
authors.initials: I
authors.lastname: Ceccherini
authors.forename: R M
authors.initials: RM
authors.lastname: Hofstra
authors.forename: Y
authors.initials: Y
authors.lastname: Luo
authors.forename: R P
authors.initials: RP
authors.lastname: Stulp
authors.forename: V
authors.initials: V
authors.lastname: Barone
authors.forename: T
authors.initials: T
authors.lastname: Stelwagen
authors.forename: R
authors.initials: R
authors.lastname: Bocciardi
authors.forename: H
authors.initials: H
authors.lastname: Nijveen
authors.forename: A
authors.initials: A
authors.lastname: Bolino
authors.forename: M
authors.initials: M
authors.lastname: Seri
mesh_terms: D001483:Base Sequence; D004247:DNA; D029721:Drosophila Proteins; D005091:Exons; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D011519:Proto-Oncogenes; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*
chemical_list: D029721:Drosophila Proteins; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D004247:DNA; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila