[Mutation characteristic of STK].
OBJECTIVE
To identify the mutation characteristic of STK(11) gene in Chinese with Peutz-Jeghers syndrome(PJS) and establish the base of the gene diagnosis of PJS.


METHODS
STK(11) germline mutation was analysed by DNA sequencing in 18 unrelation patients with PJS.


RESULTS
Six novel mutations of STK (11) gene were detected in six unrelation patients. These mutations will lead to production of truncated protein.


CONCLUSIONS
STK (11) 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 concentr ate 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.
Li
Y
Y
Affiliated Xiangya Hospital, Hunan Medical University, Changsha, Hunan, 410078 P.R.China. nlmglcy@public.cs.hn.cn
Lu
X
X
Xia
J
J
Tang
X
X
Xia
K
K
He
Y
Y
Zhang
G
G
D000091162:AMP-Activated Protein Kinase Kinases; D005091:Exons; D018095:Germ-Line Mutation; D006801:Humans; D010580:Peutz-Jeghers Syndrome / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases