中华实验外科杂志
中華實驗外科雜誌
중화실험외과잡지
CHINESE JOURNAL OF EXPERIMENTAL SURGERY
2009年
6期
721-723
,共3页
王海%吴志宏%庄乾宇%邱贵兴
王海%吳誌宏%莊乾宇%邱貴興
왕해%오지굉%장건우%구귀흥
青少年特发性脊柱侧凸%单核苷酸多态性%褪黑素
青少年特髮性脊柱側凸%單覈苷痠多態性%褪黑素
청소년특발성척주측철%단핵감산다태성%퇴흑소
Adolescent idiopathic scoliosis%Single nuclear polymorphism%Melatonin
目的 探讨青少年特发性脊柱侧凸(AIS)与褪黑素合成间的关系.方法 在103例AIS患者和108例埘照(性别和年龄匹配)中,对TPH1基因上的单核甘酸多态性(SNPs)位点进行基因分型筛查,并对筛查结果进行Hardy-Weinberg遗传半衡、单位点分析和连锁不半衡检验及其单倍体分析.结果 7个筛查的SNPs位点中只有3个佗点满足MAF≥5%,在单位点分析中发现m10488682与AIS的发牛相关(P=1e-04),但在单倍体分析中未见阳性位点.结论 TPH1基因是AIS的一个易感基因,它所导致的褪黑素合成障碍可能与AIS的发病相关.
目的 探討青少年特髮性脊柱側凸(AIS)與褪黑素閤成間的關繫.方法 在103例AIS患者和108例塒照(性彆和年齡匹配)中,對TPH1基因上的單覈甘痠多態性(SNPs)位點進行基因分型篩查,併對篩查結果進行Hardy-Weinberg遺傳半衡、單位點分析和連鎖不半衡檢驗及其單倍體分析.結果 7箇篩查的SNPs位點中隻有3箇佗點滿足MAF≥5%,在單位點分析中髮現m10488682與AIS的髮牛相關(P=1e-04),但在單倍體分析中未見暘性位點.結論 TPH1基因是AIS的一箇易感基因,它所導緻的褪黑素閤成障礙可能與AIS的髮病相關.
목적 탐토청소년특발성척주측철(AIS)여퇴흑소합성간적관계.방법 재103례AIS환자화108례시조(성별화년령필배)중,대TPH1기인상적단핵감산다태성(SNPs)위점진행기인분형사사,병대사사결과진행Hardy-Weinberg유전반형、단위점분석화련쇄불반형검험급기단배체분석.결과 7개사사적SNPs위점중지유3개타점만족MAF≥5%,재단위점분석중발현m10488682여AIS적발우상관(P=1e-04),단재단배체분석중미견양성위점.결론 TPH1기인시AIS적일개역감기인,타소도치적퇴흑소합성장애가능여AIS적발병상관.
Objective To access whether there was melatonin biosynthesis dysfunction in adolescent idiopathic scoliosis(AIS)patients.Methods Seven reported single nuclear polymorphisms(SNPs)present in tryptophan hydroxylase 1(TPHl)were genotyped in 103 AIS patients and 108 controls with matched sex and age.The data were analyzed by Hardy-Weinberg Equilibriumthe analysis.Single-SNP analysis,Linkage Disequilibrium and the haplotypes analysis.Results Single-SNP analysis showed rs10488682 was related with the occurrence of AIS(P=le-04).No positive haplotype was found in the haplotypes analysis.Conclusion TPH1 was an AIS predisposition gene,and AIS might be associated with dysfounction of melatonin biosynthesis in patients.
