基础医学与临床
基礎醫學與臨床
기출의학여림상
BASIC MEDICAL SCIENCES AND CLINICS
2009年
11期
1189-1193
,共5页
四引物扩增受阻突变体系%少精、无精症%MLH3基因
四引物擴增受阻突變體繫%少精、無精癥%MLH3基因
사인물확증수조돌변체계%소정、무정증%MLH3기인
4P-ARMS-PCR%oligospermia%azoospermia%MLH3 gene
目的 分析错配修复蛋白MLH3基因C2531T突变与少精、无精症的关系.方法 以MLH3 C2531T为例建立四引物扩增受阻突变体系(4P-ARMS-PCR)方法 ;分别用4P-ARMS-PCR和PCR-RFLP检测81例少精、无精症患者和80例正常对照者MLH3 C2531T;随机抽取20%标本测序进行验证.结果 MLH3 C2531T的CT+TT基因型在患者中有明显的流行,且MLH3 C2531T的T等位基因与疾病存在相关性(P＜0.01);PCR.RFLP检测结果 与4P-ARMS-PCR检测结果 完全一致,测序结果 相同.结论 4P-ARMS-PCR可快速、简便、准确检测基因单核苷酸突变(SNP);错配修复蛋白MLH3 C2531T多态性与少精、无精症存在相关性.
目的 分析錯配脩複蛋白MLH3基因C2531T突變與少精、無精癥的關繫.方法 以MLH3 C2531T為例建立四引物擴增受阻突變體繫(4P-ARMS-PCR)方法 ;分彆用4P-ARMS-PCR和PCR-RFLP檢測81例少精、無精癥患者和80例正常對照者MLH3 C2531T;隨機抽取20%標本測序進行驗證.結果 MLH3 C2531T的CT+TT基因型在患者中有明顯的流行,且MLH3 C2531T的T等位基因與疾病存在相關性(P＜0.01);PCR.RFLP檢測結果 與4P-ARMS-PCR檢測結果 完全一緻,測序結果 相同.結論 4P-ARMS-PCR可快速、簡便、準確檢測基因單覈苷痠突變(SNP);錯配脩複蛋白MLH3 C2531T多態性與少精、無精癥存在相關性.
목적 분석착배수복단백MLH3기인C2531T돌변여소정、무정증적관계.방법 이MLH3 C2531T위례건립사인물확증수조돌변체계(4P-ARMS-PCR)방법 ;분별용4P-ARMS-PCR화PCR-RFLP검측81례소정、무정증환자화80례정상대조자MLH3 C2531T;수궤추취20%표본측서진행험증.결과 MLH3 C2531T적CT+TT기인형재환자중유명현적류행,차MLH3 C2531T적T등위기인여질병존재상관성(P＜0.01);PCR.RFLP검측결과 여4P-ARMS-PCR검측결과 완전일치,측서결과 상동.결론 4P-ARMS-PCR가쾌속、간편、준학검측기인단핵감산돌변(SNP);착배수복단백MLH3 C2531T다태성여소정、무정증존재상관성.
Objective Analysing the potential relationship of mismatch repair protein MLH3 gene C2531T mutation with oligospermia and azoospermia cases. Methods Using MLH3 C2531T as an example to establish a method of tetra-primer amplification refractory mutation system-PCR (4P-ARMS-PCR); We chose 81 cases of oligospermia, azoospermia patients and 80 normal controls, detecting MLH3 C2531T both using 4P-ARMS-PCR and PCR-RFLP; randomly to select 20% samples to sequence. Results The results suggested higher prevalence of CT + TT genotypes in patients as compared to the controls and association of T allele with disease (P <0. 01); PCR-RFLP results , 4P-ARMS-PCR results and sequence results are fully consistent. Conclusion 4P-ARMS-PCR can be a fast, easy-operating and accurate technology for detection of gene mutation of single nucleotide polymorphism (SNP) ; MLH3 C2531T polymorphism is related to oligospermia and azoospermia.
