Mutation characteristic of STK11 gene in Chinese with Peutz-Jeghers syndrome
10.3760/j.issn:1003-9406.2001.01.002
- VernacularTitle:STK11基因突变在中国人Peutz-Jeghers综合征中的特征
- Author:
Yixiong LI
1
;
Xingsheng LU
;
Jiahui XIA
;
Xixian TANG
;
Kun XIA
;
Yungui HE
;
Guiying ZHANG
Author Information
1. Affiliated Xiangya Hospital Hunan Medical University
- From:
Chinese Journal of Medical Genetics
2001;18(1):4-7
- CountryChina
- Language:Chinese
-
Abstract:
Objective To identify the mutation characteristic of STK11 gene in Chinese with Peutz-Jeghers syndrome(PJS) and establish the base of the gene diagnosis of PJS.Methods STK11 germline mutation was analysed by DNA sequencing in 18 unrelation patients with PJS.Results Six novel mutations of STK11 gene were detected in six unrelation patients. These mutations will lead to production of truncated protein.Conclusion STK11 gene mutation accounts for one third of the Chinese with PJS. The content of mutation includes single base substitution or deletion and one or two bases insertion. The mutations were widely found in different regions of the whole coding sequence, and 2/3 of those concentrate in exon 1. Mutation frequency is 66.7% in the family suffering PJS in two or more generations, and 16.7% in the disseminated cases.
