CAJ | 학술논문

目的：???探讨同源异型盒基因1（MSX1）与非综合征性唇腭裂在新疆地区维吾尔人群中的相关性。方法???选择世居新疆的维吾尔族非综合征性唇腭裂患者100例为病例组，60例健康人群为对照组，用二代测序技术对MSX1基因前500?bp、5’非翻译区（UTR）和编码区进行测序分析。结果???基因测序共发现5个单核苷酸多态性（SNP）位点：rs36059701、rs80120240、rs1042484、rs34165410、rs8670。病例对照分析结果显示，以上位点等位基因与基因型分布在病例组与对照组间的差异均无统计学意义（P>0.05）。以上5个SNP的连锁不平衡分析结果显示，未能证实其存在连锁不平衡（r2<0.8）。结论???在新疆维吾尔人群中，MSX1基因与非综合征性唇腭裂的发生未发现相关性。
목적：???탐토동원이형합기인1（MSX1）여비종합정성진악렬재신강지구유오이인군중적상관성。방법???선택세거신강적유오이족비종합정성진악렬환자100례위병례조，60례건강인군위대조조，용이대측서기술대MSX1기인전500?bp、5’비번역구（UTR）화편마구진행측서분석。결과???기인측서공발현5개단핵감산다태성（SNP）위점：rs36059701、rs80120240、rs1042484、rs34165410、rs8670。병례대조분석결과현시，이상위점등위기인여기인형분포재병례조여대조조간적차이균무통계학의의（P>0.05）。이상5개SNP적련쇄불평형분석결과현시，미능증실기존재련쇄불평형（r2<0.8）。결론???재신강유오이인군중，MSX1기인여비종합정성진악렬적발생미발현상관성。
Objective???To?investigate?the?relationship?between?muscle?segment?homeobox(MSX)?1?and?non-syndromic?cleft?lip?with?and?without?cleft?palate(NSCL/P)?in?Xinjiang?Uyghur?population.?Methods???One?hundred?Uyghur?NSCL/P?patients?from?Xinjiang?were?included?as?the?case?gruop?and?60?healthy?individuals?as?the?control?group.?Next?generation?sequencing?was?used?to?detect?500?bp?around?gene,?5’?untranslated?region(UTR)?and?coding?region?of?MSX?1.?Results?Five?single?nucleotide?polymorphisms?were?found:?rs36059701,?rs80120240,?rs1042484,?rs34165410,?rs8670.?The?genotype?distribution?and?the?frequency?of?alleles?were?no?significant?difference?in?case?group?and?control?group(P>0.05)?and?significant?evidence?of?linkage?disequilibrium?were?not?found?in?the?5?loci(r2<0.8).?Conclusion???The?association?between?MSX1?gene?polymorphisms?and?NSCL/P?in?Xinjiang?Uygur?people?was?not?observed.