Mutation analysis in two Chinese families with multiple endocrine neoplasia type 1.
OBJECTIVE
This study aimed at identifing mutations in two Chinese genealogies with MEN1.


METHODS
Three members of two Chinese families with MEN1 were enrolled in this study, and all of the coding regions and adjacent sequences of the MEN1 gene were amplified and sequenced.


RESULTS
A recurrent mutation of heterozygous change T>A at IVS 4+1 was found in family I, and a novel insGAGGTGG mutation (c.703-709dup7bp) resulted in a frameshift (p.A237Gfsx13) in family II.


CONCLUSIONS
We are able to add a new mutation of MEN1 gene in Chinese patients with MEN1 that will be useful for the diagnosis and treatment of the disease.
Department of General Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Tsinghua University, Beijing 100730, China.
Zhang
Z
Wen
Quan
Q
Liao
Ya
Y
Hu
Yupei
Y
Zhao
D001483:Base Sequence; D002681:China; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D010282:Parathyroid Neoplasms / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*