老年人MBL基因ExonⅠ点突变频率及其血浆含量变化的研究

Study on ExonⅠ point mutation frequency of MBL gene and the changes in plasma MBL concentration in the elderly

目的探讨老年人甘露糖结合凝集素(MBL)基因ExonⅠ52、54和57位密码子点突变频率和血浆MBL含量变化。方法采用PCR-SSP法检测MBL基因ExonⅠ52位密码子点突变,PCR-RFLP法检测54和57位密码子点突变;ELISA法测定血浆MBL含量。结果老年组和中青年组52、54和57位密码子基因突变频率分别为0.6%和0.8%(确切概率P=0.801)(52位)、20.9%和16.4%(P=0.336)(54位)、0%和0%(57位)。血浆MBL含量老年组和中青年组分别为(2017±1804)μg/L和(2523±1955)μg/L(P=0.109)(野生型+突变型组);(2956±1701)μg/L和(3432±1687)μg/L(P=0.1775)(野生型组);(530±360)μg/L和(709±416)μg/L(P=0.3448)(突变型组)。结论MBL基因ExonⅠ52、54、57位密码子点突变频率和MBL血浆含量老年组和中青年组差别无统计学意义。

Objective To investigate point mutation frequency at codon 52, 54 and 57 of mannose-binding lectin （MBL） gene Exon Ⅰ and plasma MBL level. Methods The point mutation at eodon 52 was detected with polymerase chain reaction （PCR） -sequence specific primers （SSP） , that at eodon 54 and 57 of MBL gene Exon Ⅰ was measured by PCR-restrietion fragment length polymorphism （RFLP） ; plasma MBL concentration was determined by ELISA. Results Mutation frequencies at eodon in old age group and middle-aged and young group were O. 6% and O. 8% （ accurate probability P =0. 801 ） （ at 52） , 20. 9% and 16.4% （ P =0. 336） （ at 54）, 0% and 0% （ at 57 ）. Plasma MBL concentrations in old aged and middle-aged and young group were （2 017 ± 1 804） μg/L and （2 523 ±1 955 ） μg/L （ P = 0. 109 0） （ wild ＋ mutation type）, （2 956 ± 1 701 ） μg/L and （3 432 ± 1 687） μg/L （ P =0. 177 5） （wild type）, （530 ±2360） μg/L and （709 ±2416）μg/L （P = 0. 344 8） （mutation type）. Conclusiolis There are no statistical significance in point mutation frequency at eodon 52, 54 and 57 of MBL gene Exon I between the（ old aged group and the middle-aged and young group.