Τίτλος:
Evidence for the founder effect of RET533 as the common Greek and Brazilian ancestor spreading multiple endocrine neoplasia 2A
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Objectives: About one-quarter of patients with medullary thyroid cancer (MTC) have inherited disease due to mutations in the RET gene. A rare mutation in exon 8 (G533C) of RET, previously described in a large Brazilian family with MEN2A, also appeared to be clustering in Greece, whereas it was rarely reported in other ethnic groups. The aim of this study was to identify a possible common ancestry between these carriers. Patients and methods: Twelve RET G533C mutation carriers, four randomly selected from the Brazilian cohort and eight from apparently unrelated Greek families, were studied for a possible common ancestral origin. RET flanking microsatellite markers at chromosome 10q (D10S197, D10S196, D10S1652 and D10S537) were used. Results: Genomic DNA analysis using these markers showed that many of these apparently unrelated individuals shared a common haplotype indicating a common ancestral origin. Conclusion: Our data suggest that Brazilian and Greek patients with MTC carrying the G533C mutation in exon 8 of RET gene originate from a common ancestor. Due to historical reasons, we speculate that the more plausible explanation for the origin of this mutation is in Greece. © 2017 European Society of Endocrinology Printed in Great Britain.
Συγγραφείς:
Cunha, L.L.
Lindsey, S.C.
França, M.I.C.
Sarika, L.
Papathoma, A.
Kunii, I.S.
Cerutti, J.M.
Dias-Da-silva, M.R.
Alevizaki, M.
Maciel, R.M.B.
Περιοδικό:
European Journal of Endocrinology
Εκδότης:
BioScientifica Ltd
Λέξεις-κλειδιά:
genomic DNA; microsatellite DNA; protein Ret; RET protein, human, adult; Article; Brazil; chromosome 10q; clinical article; cohort analysis; controlled study; DNA determination; female; founder effect; gene mutation; Greece; haplotype; human; male; microsatellite marker; middle aged; multiple endocrine neoplasia type 2a; oncogene ret; priority journal; randomized controlled trial; RET533 gene; genetics; multiple endocrine neoplasia type 2a; mutation, Adult; Brazil; Female; Founder Effect; Greece; Humans; Male; Microsatellite Repeats; Middle Aged; Multiple Endocrine Neoplasia Type 2a; Mutation; Proto-Oncogene Proteins c-ret
