Mutation of the ret proto-oncogene in two Chinese families with multiple endocrine neoplasia type 2A(MEN2A).
- VernacularTitle:多发性内分泌腺瘤2A型家系中ret原癌基因突变的分子筛查
- Author:
Xue LIU
;
Bin YAO
;
Jianping WENG
- Publication Type:Journal Article
- Keywords:
Multiple endocrine neoplasia;
ret Proto-oncogene;
Gene mutation
- From:
Chinese Journal of Practical Internal Medicine
2006;0(22):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To detect ret mutations in two Chinese families with multiple endocrine neoplasia type 2A(MEN2A).Methods In our study,9 members from these two families including 3 patients were recruited.Polymerase chain reaction(PCR)and direct gene sequencing of PCR products by an automated DNA sequencer were applied to scan the entire 21 exons of ret proto-oncogene in the leukocyte DNA of the subjects.Results Two missense mutations were detected in exon11 of the ret proto-oncogene.One was C634R in the 2 patients from a family and the other was C634Y in 2 subjects from another family(one was the patient).Two heterozygous variants(A45A and L769L)in these 4 subjects were revealed.Conclusion Two mutations(C634R and C634Y)are detected in two families with MEN2A.Direct DNA sequencing analysis can diagnose MEN2A at gene level,which is helpful in making clinical management of the disease and in diagnosing earlier in their offspring.
