中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2008年
4期
390-395
,共6页
SHI Wen-ping%边建超%JIANG Feng%倪红霞%ZHU Qian-xi%汤洪伟%SHEN Qiang%吴毅
SHI Wen-ping%邊建超%JIANG Feng%倪紅霞%ZHU Qian-xi%湯洪偉%SHEN Qiang%吳毅
SHI Wen-ping%변건초%JIANG Feng%예홍하%ZHU Qian-xi%탕홍위%SHEN Qiang%오의
乳头状甲状腺癌%hMLH1基因%hMSH3基因%遗传多态性%单倍型
乳頭狀甲狀腺癌%hMLH1基因%hMSH3基因%遺傳多態性%單倍型
유두상갑상선암%hMLH1기인%hMSH3기인%유전다태성%단배형
papillary thyroid carcinoma%hMSH3 gene%genetic polymorphism%haplotype
目的 探讨中国汉族人群中hMLH1和hMSH3基因多态性及其组成的单倍型与乳头状甲状腺癌(papillary thyroid carcinoma,PTC)遗传易感性的关系.方法 采用以医院为基础的1:1配对病例对照研究设计;应用聚合酶链反应、限制性片段长度多态性和等位基因特异性寡核苷酸探针杂交技术检测204对乳头状甲状腺癌患者和健康对照的hMLH1和hMSH3基因的多态性.结果 (1)以hMLH1基因1151TT为参照,1151TA基因型可以使PTC发病风险边缘性升高,OR值为2.15(95%CI:0.99～4.85);1151TA+AA基因型可使FIE发病风险显著性升高,OR值为2.15(95%CI:1.02～4.69);(2)hMLH1基因单倍型-93G、1151A、655A在病例组的频率明显高于对照组,差异有统计学意义(Y2=6.49,P=0.011).以-93G、1151T、655A单倍型为参照,-93G、1151A、655A单倍型可以使PIE发病风险升高,OR值为2.67(95%CI:1.16～6.53).(3)hMSH3基因单倍型3124G、2835A在病例组的频率明显高于对照组,差异有统计学意义(x2=4.11,P=0.043).以3124A、2835G单倍型为参照,3124G2835A单倍型能使PTC发病风险边缘性升高,OR值为3.08(95%CI:0.92～13.25).结论 hMLH1基因1151T/A多态与PIE的易感性有关,hMLH1基因-93G、1151A、655A单倍型和hMSH3基因3124G、2835A单倍型与PTC相关.
目的 探討中國漢族人群中hMLH1和hMSH3基因多態性及其組成的單倍型與乳頭狀甲狀腺癌(papillary thyroid carcinoma,PTC)遺傳易感性的關繫.方法 採用以醫院為基礎的1:1配對病例對照研究設計;應用聚閤酶鏈反應、限製性片段長度多態性和等位基因特異性寡覈苷痠探針雜交技術檢測204對乳頭狀甲狀腺癌患者和健康對照的hMLH1和hMSH3基因的多態性.結果 (1)以hMLH1基因1151TT為參照,1151TA基因型可以使PTC髮病風險邊緣性升高,OR值為2.15(95%CI:0.99～4.85);1151TA+AA基因型可使FIE髮病風險顯著性升高,OR值為2.15(95%CI:1.02～4.69);(2)hMLH1基因單倍型-93G、1151A、655A在病例組的頻率明顯高于對照組,差異有統計學意義(Y2=6.49,P=0.011).以-93G、1151T、655A單倍型為參照,-93G、1151A、655A單倍型可以使PIE髮病風險升高,OR值為2.67(95%CI:1.16～6.53).(3)hMSH3基因單倍型3124G、2835A在病例組的頻率明顯高于對照組,差異有統計學意義(x2=4.11,P=0.043).以3124A、2835G單倍型為參照,3124G2835A單倍型能使PTC髮病風險邊緣性升高,OR值為3.08(95%CI:0.92～13.25).結論 hMLH1基因1151T/A多態與PIE的易感性有關,hMLH1基因-93G、1151A、655A單倍型和hMSH3基因3124G、2835A單倍型與PTC相關.
목적 탐토중국한족인군중hMLH1화hMSH3기인다태성급기조성적단배형여유두상갑상선암(papillary thyroid carcinoma,PTC)유전역감성적관계.방법 채용이의원위기출적1:1배대병례대조연구설계;응용취합매련반응、한제성편단장도다태성화등위기인특이성과핵감산탐침잡교기술검측204대유두상갑상선암환자화건강대조적hMLH1화hMSH3기인적다태성.결과 (1)이hMLH1기인1151TT위삼조,1151TA기인형가이사PTC발병풍험변연성승고,OR치위2.15(95%CI:0.99～4.85);1151TA+AA기인형가사FIE발병풍험현저성승고,OR치위2.15(95%CI:1.02～4.69);(2)hMLH1기인단배형-93G、1151A、655A재병례조적빈솔명현고우대조조,차이유통계학의의(Y2=6.49,P=0.011).이-93G、1151T、655A단배형위삼조,-93G、1151A、655A단배형가이사PIE발병풍험승고,OR치위2.67(95%CI:1.16～6.53).(3)hMSH3기인단배형3124G、2835A재병례조적빈솔명현고우대조조,차이유통계학의의(x2=4.11,P=0.043).이3124A、2835G단배형위삼조,3124G2835A단배형능사PTC발병풍험변연성승고,OR치위3.08(95%CI:0.92～13.25).결론 hMLH1기인1151T/A다태여PIE적역감성유관,hMLH1기인-93G、1151A、655A단배형화hMSH3기인3124G、2835A단배형여PTC상관.
Objective To explore the relationship of the genetic polymorphisms and the haplotypes inhMLH1 and hMSH3 gene with the risk of papillary thyroid carcinoma(PTC)in Chinese Hans.Methods A hospital based 1: 1 matched case-control study was carried out.The polymorphisms for 204 pairs of PIE cases and healthy controls were identified by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)and allele specific oligonucleotide(PCR-ASO)assays.Results (1)The PTC risk was marginally increased in the hMLH1 1151TA genotype. with odds ratio(OR)of 2.15(95% CI:0.99-4.85);the PTC risk was significantly increased in the mutant genotype 1151TA+AA,with OR of 2.15(95% CI:1.02-4.69);(2)The haplotypes of-93G,1151A,655 A in the hMLH1 gene could increase the PTC risk,with OR of 2.67(95% CI:1.16-6.53,P=0.011),compared with the haplotype of-93G,1151T,655A;(3)Compared to 3124A,2835G haplotype in hMSH3 gene,the 3124G,2835A haplotype could increase the PTC risk marginally,with OR of 3.08(95% CI:0.92-13.25).Conclusion The 1151T/A polymorphism in hMLH1 was associated with PTC;both the haplotype of-93G,1151A,655A in hMLH1 and the 3124G,2835A haplotype in hMSH3 were associated with PTC.
