Mutation analysis in a Chinese family with multiple endocrine neoplasia type 1 / 中华医学杂志(英文版)
Chinese Medical Journal
;
(24): 569-573, 2010.
Article
in English
| WPRIM
| ID: wpr-314542
ABSTRACT
<p><b>BACKGROUND</b>Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant cancer syndrome which is caused by germline mutations of the tumor suppressor gene MEN1. This study aimed to identify mutations in a Chinese pedigree with MEN1.</p><p><b>METHODS</b>A large Chinese family with MEN1 was collected. All of the coded regions and their adjacent sequences of the MEN1 gene were amplified and sequenced.</p><p><b>RESULTS</b>In this family, a heterozygous cytosine insertion in exon 10 (c.1546_1547insC) inducing a frame shift mutation of MEN1 was found in the proband and the other two suffering members of his family. This mutation was linked to a novel single nucleotide polymorphism (SNP) in intron 3 (IVS3 + 18C > T).</p><p><b>CONCLUSIONS</b>The mutation in exon 10 of MEN1 gene might induce development of parathyroid hyperplasia and pituitary adenoma and cosegregate with MEN1 syndrome. The significance of the new found IVS3 + 18C > T of MEN1 needs a further investigation.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Proto-Oncogene Proteins
/
Sequence Analysis, DNA
/
Multiple Endocrine Neoplasia Type 1
/
Polymorphism, Single Nucleotide
/
Genetics
/
Mutation
Limits:
Humans
/
Male
Language:
English
Journal:
Chinese Medical Journal
Year:
2010
Type:
Article
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