中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2011年
5期
572-574
,共3页
李常兴%李雪梅%张锡宝%韩春雷%马泽粦%林东子
李常興%李雪梅%張錫寶%韓春雷%馬澤粦%林東子
리상흥%리설매%장석보%한춘뢰%마택린%림동자
特应性皮炎%南方汉族人%中间丝聚合蛋白%单核苷酸多态性
特應性皮炎%南方漢族人%中間絲聚閤蛋白%單覈苷痠多態性
특응성피염%남방한족인%중간사취합단백%단핵감산다태성
atopic dermatitis%southern Chinese Han population%filaggrin%single nucleotide polymorphism
目的 探讨中间丝聚合蛋白( filaggrin,FLG)基因多态性与南方汉族人特应性皮炎(atopic dermatitis,AD)的相关性.方法 提取50例南方汉族AD患者及100名健康对照者的基因组DNA,采用PCR及直接测序法,对FLG基因已报道的13个单核苷酸多态性(3321 delA、441 delA、1249insG、E1795X、S3296X、R501X、2282 del4、R2447X、S2889X、7945 delA、3702 delG、Q2417X、R4307X)进行测序.结果 14例(28%)AD患者检测到FLG 3321 delA多态性位点,6例(12%) AD患者检测到FLG 441 delA多态性位点,健康对照组无1例检测到该多态性位点.患者组及对照组均未检测到FLG( 1249insG、E1795X、S3296X、R501X、2282 del4、R2447X、S2889X、7945 delA、3702 delG、Q2417X、R4307X)基因多态性.结论 FLG基因可能与南方汉族人群AD易感性相关.
目的 探討中間絲聚閤蛋白( filaggrin,FLG)基因多態性與南方漢族人特應性皮炎(atopic dermatitis,AD)的相關性.方法 提取50例南方漢族AD患者及100名健康對照者的基因組DNA,採用PCR及直接測序法,對FLG基因已報道的13箇單覈苷痠多態性(3321 delA、441 delA、1249insG、E1795X、S3296X、R501X、2282 del4、R2447X、S2889X、7945 delA、3702 delG、Q2417X、R4307X)進行測序.結果 14例(28%)AD患者檢測到FLG 3321 delA多態性位點,6例(12%) AD患者檢測到FLG 441 delA多態性位點,健康對照組無1例檢測到該多態性位點.患者組及對照組均未檢測到FLG( 1249insG、E1795X、S3296X、R501X、2282 del4、R2447X、S2889X、7945 delA、3702 delG、Q2417X、R4307X)基因多態性.結論 FLG基因可能與南方漢族人群AD易感性相關.
목적 탐토중간사취합단백( filaggrin,FLG)기인다태성여남방한족인특응성피염(atopic dermatitis,AD)적상관성.방법 제취50례남방한족AD환자급100명건강대조자적기인조DNA,채용PCR급직접측서법,대FLG기인이보도적13개단핵감산다태성(3321 delA、441 delA、1249insG、E1795X、S3296X、R501X、2282 del4、R2447X、S2889X、7945 delA、3702 delG、Q2417X、R4307X)진행측서.결과 14례(28%)AD환자검측도FLG 3321 delA다태성위점,6례(12%) AD환자검측도FLG 441 delA다태성위점,건강대조조무1례검측도해다태성위점.환자조급대조조균미검측도FLG( 1249insG、E1795X、S3296X、R501X、2282 del4、R2447X、S2889X、7945 delA、3702 delG、Q2417X、R4307X)기인다태성.결론 FLG기인가능여남방한족인군AD역감성상관.
Objective To investigate the association of filaggrin gene (FLG) polymorphism with atopic dermatitis (AD) in southern Chinese Han population.Methods The frequencies of the 13 known FLG gene single nucleotide polymorphism(SNPs),including 3321delA,441delA,1249insG,E1795X,S3296X,R501X,2282del4,R2447X,S2889X,7945delA,3702delG,Q2417X,R4307X,were detected in a cohort of 50 AD patients and 100 control individuals using polymerase chain reaction (PCR) and DNA sequencing.Results FLG 3321delA and 441delA were detected in 14 (28%) and 6 (12%) AD patients,respectively.The other 11 SNPs were not detected in the patients.None of the 13 SNPs was detected in the controls.Conclusion The results suggested that the FLG gene might be associated with atopic dermatitis susceptibility in southern Chinese Han population.