Peutz-Jeghers综合征患者STK11基因突变情况

表1 36例PJS患者STK11基因编码区突变情况

患者	外显子	核苷酸改变	突变类型	氨基酸改变	病理类型	SNP编码
PJS-1	Exon1	c.178 Int1A	移码突变	Y60&Termination	错构瘤	Novel
PJS-2	Exon1	c.95 del2C	移码突变	T32T	错构瘤	Novel
PJS-3	Exon1	c.193 G>3T	错义突变	E65&Termination	错构瘤	Novel
PJS-4	Exon1	c.152 IntG	移码突变	M51M	错构瘤	Novel
PJS-5	Exon1	c.250 A>T	错义突变	K84&Termination	错构瘤	rs137853076
PJS-6	Exon1	c.56 G>C	错义突变	S19W	错构瘤	Novel
PJS-7	Exon1	c.180 C>G	错义突变	Y60&Termination	错构瘤	Novel
PJS-8	Exon1	c.180 C>G	错义突变	Y60&Termination	错构瘤	Novel
PJS-9	Exon1	c.180 C>G	错义突变	Y60&Termination	错构瘤	Novel
PJS-10	Exon2	c.354 C>G	错义突变	Y118&Termination	错构瘤	Novel
PJS-11	Exon4	c.521 A>G	错义突变	H174R	错构瘤	Novel
PJS-12	Exon4	c.526 G>A	错义突变	D176N	错构瘤	Novel
PJS-13	Exon4	c.552 T>G	错义突变	L184R	错构瘤	Novel
PJS-14	Exon4	c.580 G>A	错义突变	D194N	错构瘤	rs121913315
PJS-15	Exon5	c.716 G>A	错义突变	W239&Termination	错构瘤	Novel
PJS-16	Exon6	c.805 A>T	错义突变	K269&Termination	错构瘤	Novel
PJS-17	Exon6	c.837 delC	移码突变	G215G	错构瘤	rs121913321
PJS-18	Exon6	c.837 IntC	移码突变	G215G	错构瘤	rs121913321
PJS-19	Exon6	c.862 G>A	错义突变	G288S	错构瘤	Novel
PJS-20	Exon7	c.911 G>C	错义突变	R304P	错构瘤	rs376280361
PJS-21	Exon8	c.950 C>G	错义突变	S317W	错构瘤	rs59912467
PJS-22	Exon9	c.1113 C>T	错义突变	R371W	错构瘤	rs368466538

¹碱基的插入;

²碱基的缺失;

³碱基的置换.

表2 家族史和散发患者STK11基因突变率的比较 (n)

类型	阳性	阴性	合计	P值
家族史	10	6	16
散发者	12	8	20
合计	22	14	36	0.577