中华肝胆外科杂志
中華肝膽外科雜誌
중화간담외과잡지
CHINESE JOURNAL OF HEPATOBILIARY SURGERY
2011年
9期
718-721
,共4页
秦俭%吴卫则%牛振民%蒋兆彦%张凯悦%华琪%姜志宏%王艺%黄薇%韩天权%张圣道
秦儉%吳衛則%牛振民%蔣兆彥%張凱悅%華琪%薑誌宏%王藝%黃薇%韓天權%張聖道
진검%오위칙%우진민%장조언%장개열%화기%강지굉%왕예%황미%한천권%장골도
胆囊结石病%ABCA2基因%单核苷酸多态性
膽囊結石病%ABCA2基因%單覈苷痠多態性
담낭결석병%ABCA2기인%단핵감산다태성
Gallstone disease%ABCA2 gene%Single nucleotide polymorphism
目的 检测中国人ABCA2(ATP binding cassette A2)基因编码区单核苷酸多态性(single nucleotide polymorphism，SNP)，并探讨其与中国汉族人群胆囊结石病的关系。方法 采用直接测序法检测ABCA2基因编码区及相邻的部分内含子的序列，以确定中国人ABCA2基因SNPs的位置及类型。对位于编码区的SNPs，采用病例对照方法，在胆囊结石病患者和正常对照者中进行关联研究。结果在16 911 bp测序长度中，共发现12个SNP，2个位于编码区，10个位于内含子，其中7个为新发现的SNP。各SNPs在胆石病组和对照组中分布差异无统计学意义。结论SNP在不同种族间存在差异。ABCA2基因编码区SNP在胆石病和对照组间分布差异无统计学意义。
目的 檢測中國人ABCA2(ATP binding cassette A2)基因編碼區單覈苷痠多態性(single nucleotide polymorphism，SNP)，併探討其與中國漢族人群膽囊結石病的關繫。方法 採用直接測序法檢測ABCA2基因編碼區及相鄰的部分內含子的序列，以確定中國人ABCA2基因SNPs的位置及類型。對位于編碼區的SNPs，採用病例對照方法，在膽囊結石病患者和正常對照者中進行關聯研究。結果在16 911 bp測序長度中，共髮現12箇SNP，2箇位于編碼區，10箇位于內含子，其中7箇為新髮現的SNP。各SNPs在膽石病組和對照組中分佈差異無統計學意義。結論SNP在不同種族間存在差異。ABCA2基因編碼區SNP在膽石病和對照組間分佈差異無統計學意義。
목적 검측중국인ABCA2(ATP binding cassette A2)기인편마구단핵감산다태성(single nucleotide polymorphism，SNP)，병탐토기여중국한족인군담낭결석병적관계。방법 채용직접측서법검측ABCA2기인편마구급상린적부분내함자적서렬，이학정중국인ABCA2기인SNPs적위치급류형。대위우편마구적SNPs，채용병례대조방법，재담낭결석병환자화정상대조자중진행관련연구。결과재16 911 bp측서장도중，공발현12개SNP，2개위우편마구，10개위우내함자，기중7개위신발현적SNP。각SNPs재담석병조화대조조중분포차이무통계학의의。결론SNP재불동충족간존재차이。ABCA2기인편마구SNP재담석병화대조조간분포차이무통계학의의。
Objective To investigate the single nucleotide polymorphisms (SNPS) in the coding regions of the human ABCA2 gene and to determine the association of some of these SNPs with gallstone disease in a Chinese population. Methods The exons and part of the introns of the ABCA2 gene were sequenced using a fluorescent labeling automatic method in 24 patients with gallstone disease to identify and characterize the SNPs in a Chinese population. For SNPs in the exons, case-control studies were performed on patients and controls. Results Twelve SNPs were found within a 16911 bp region of the ABCA2 gene. Among them, two were in the exons, ten in the introns and five were novel SNPs. There was no significant difference in the SNPs genotype between the patients and the controis. Conclusions There is an important ethnic difference in the SNPs distribution of the human ABCA2 gene. The distribution of SNPs in the coding regions of the human ABCA2 gene is not significantly different between the patients and the controls.
