【摘要】 目的筛查1个MEN-ⅡA综合征家系的RET原癌基因突变位点,用于指导临床。方法对1个MEN-ⅡA综合征家系的5个成员外周血提取DNA,采用聚合酶链反应和DNA直接测序方法进行RET基因热点突变的第10、11外显子检测,并讨论MEN-ⅡA家系基因突变早期检测对预防性选择外科治疗的指导意义。结果第11外显子634密码子存在TGC→CGC突变,编码的氨基酸由Cys(半胱氨酸)变为Arg(精氨酸)。结论MEN-ⅡA综合征的早期基因诊断意义较大。更多还原

【Abstract】 Objective To analysis and identify mutations of the RET proto-oncogene in a family with MEN-ⅡA syndrome.Methods The DNA was extracted from their peripheral blood.The exons10,11 of RET proto-oncogene of the proband and her four family members were amplified by polymerase chain reaction (PCR),and the PCR products were sequenced.And then discuss its clinical significance in the choice strategy of surgical treatment.Results A missense mutation of TGC(Cys) to CGC(Arg) at codon 634 in exon 11 of the RET proto-oncogene was detected.Conclusions The molecular genetic analysis is helpful in the choice strategy of precautionary surgical treatment.更多还原